endokrinologi anak

Endokrinologi Anak

Endokrinologi Anak PENGANTAR PEDIATRIC ENDOCRINOLOGY

RUANG LINGKUP ENDOKRINOLOGI ANAK

Satriono, M.Sc., Dr., SpA(K)

Terakhir diperbaharui pada / Page updated :10/10/2006

TUJUAN INTRUKSIONAL UMUM: Mahasiswa memahami penyakit-penyakit endokrinologi anak yang sering ditemukan.

TUJUAN INSTRUKSIONAL KHUSUS 1.Menyebutkan ruang lingkup endokrinologi anak. 2.Mampu menggunakan Growth chart untuk menilai pertumbuhan anak. 3.Membuat diagnosis hipotiroidisme pada anak dan bayi. Berdasarkan riwayat penyakit, gejala klinik, laboratorium, pemeriksaan penunjang lainnya. 4.Membuat diagnosis diferensial hipotiroidisme dengan Downs syndrome. Berdasarkan riwayat penyakit, gejala klinik, laboratorium, pemeriksaan penunjang lainnya. 5.Menyebutkan dasar-dasar penatalaksanaan asuhan medik gangguan pertumbuhan pada anak. 6. Menyebutkan dasar-dasar penatalaksanaan asuhan medik hipotiroidisme pada anak. 7.Menyebutkan dasar-dasar penatalaksanaan asuhan medik struma pada anak. 8.Menyebutkan dasar-dasar penatalaksanaan asuhan medik diabetes mellitus pada anak. 9. Menyebutkan macam-macam kelainan genitalia pada anak.

Ruang Lingkup Penyakit

1.Patologi Pertumbuhan 2.Hipofise Hipopituitarisme Defisiensi Growth Hormone TSH ACTH FSH , LH ADH

2.Hipofise Hiperpituitarisme Gangguan Hipotalamus Hipofise

3.Tiroid Hipotiroidisme Hipertiroidisme GONDOK pada Anak Tiroiditis Karsinoma tiroid Bedah

4.Suprarenalis Hipofungsi Penyakit Addison Insufisiensi Suprarenalis Akut Hiperfungsi: Hiperplasia suprarenalis kongenital Sindroma Cushing

5.Gonad Pubertas terlambat & Hipogonadisme Pubertas Prekoks Status Intersexual (Pseudo Hermafroditisme) Hermafroditisme Disgenesis Gonad Kelainan Kromosom sex Sindroma Turner Kriptorkidisme (Undescended Testis) Mikropenis

6.Pankreas Diabetes Mellitus Hipoglisemia spontan

7.Patologi Paratiroid Metabolisme Calcium Vit D

8. Obesitas

Yang akan dibahas untuk S1 Ked 1.Hipotiroidisme 2.DD nya Downs Syndrome 3.Diabetes Mellitus pada Anak 4.Struma pada Anak. 5.Gangguan pertumbuhan , Penggunaan Growth Chart. 6.Kelainan Genitalia pada anak. 7.Hiperplasia adrenal kongenital. 8.Obesitas anak

Endokrinologi Anak HIPOTIROIDISME



DEFINISI : Defisiensi hormon tiroid. T4 = tiroksin T3 = triiodo tironin

KLASIFIKASI

I. HIPOTIROIDISME KONGENITAL HIPOTIRODISME DIDAPAT (ACQUIRED) Istilah KRETINISME? --- dipakai untuk hipotiroidisme kongenital di daerah endemik GAKI

II. - H ENDEMIK GAKI - H SPORADIK

III. - H BAYI ---- H KONGENITAL - H ANAK ---- H JUVENIL

Penyebab H Kongenital 1.Disgenesis /Atireosis : aplasi, hipoplasi, Maldescent Kelenjar ektopik 2.Dyshormogenesis 3.Obat-obatan (KJ, Goitrogen) 4.Defisiensi Iodium 5.Thyroid HormonE Unresponsiveness 6.Defisisensi TSH

Penyebab H didapat (Acquired) 1.Operasi 2.Auto immune Disease- Tiroidits Limfositik Kronik (HASHIMOTO) 3.Infeksi 4.Obat-obatan 5.Defisiensi Iodium

1.H Primer - Tiroid 2.H Sekunder - Hipofisis 3.H Tersier -Hipotalamus 4.H --End Organ

HIPOTIROIDISME BAYI Insidens 1:4000 (3750 10000) Perempuan : Laki-laki = 3: 1 Gejala baru muncul 1-3 bulan sesudah lahir

Simtom 1.Obstipasi 2.Malas menetek (Minum susu) 3.Letargi - mau tidur saja 4.Ikterus neonatorum Prolongatus 5.Hipotermi

Signs (Gejala Klinik) 1.UUB Lebar *) 2.Rambut kering 3.Hipertelorisme 4.Makroglosi 5.Muka Sembab (a Puffy Face) *) Fontanela post terbuka waktu lahir Hipotiroidisme Bayi

6.Leher Pendek 7.Kulit: tebal, kering, Kuning, Pucat, miksedema 8.Suara serak 9.Hipotoni 10. Distenden Abdomen 11.Hernia umbilikaslis 12.Gondok bisa ada / tidak 13. Jantung :

Kardiomegali

Bising +

GAMBAR HIPOTIROIDISME KONGENITAL

1.UUB Lebar 2.Rambut kering 3.Hipertelorisme 4.Makroglosi 5.Muka Sembab (a Puffy Face)

HIPOTIROIDISME ANAK Simtom 1.Pertumbuhan terlambat - Mental - Fisik - Dentisi 2.Gemuk : Muka sembab 3.Struma 4.Bodoh 5.Cold Intolerance 6.Menometrorhagi (pada anak perempuan pubertas)

Signs (Gejala Klinik) 1.Bradikardi 2.Pendek Ratio Upper:Lower Segment >Normal 3.Overweight 4.Miksedema 5.Goiter bisa ada / tidak 6.Kulit: Pucat, Tebal, Karotinemik, Dingin, Miksedema 7.Hipotoni Otot Lembek 8.APR , KPR Lambat (Waktu refleks memanjang)

Pemeriksaan DARAH: - Hb menurun - Alkali fosfatase menurun - Hiperkolesterolemia

X Ray - disgenesis epifisis (Wilkin) - Bone Age terlambat

Pemeriksaan Bone Age terlambat

Pemeriksaan Hormonal Free T4 menurun TSH sensitif meningkat Jaman Dulu : T4 total menurun , TSH meningkat

Jaman dulu sekali : PBI (protein Bound Iodine)

Pemeriksaan Lain Scanning (Sidik Tiroid) EEG Low Voltage EKG Low Voltage EMG (Electromyogram) memanjang BMR menurun Tak dilakukan pada Anak

Pemeriksaan Lain Uji TRH Untuk bedakan H Primer dan H Sekunder

Diagnostik H Signs dan Symptoms H Laboratorium: dulu Hiperkolesterolemia Hb rendah Bone Age terlambat Hormonal : TSH sensitif meningkat Free T4 menurun DULU Diagnosis ex juvantibus

PENGOBATAN H Dulu : obat dessicated thyroid extract Contoh Thyranon 1 tablet 100 mg Dosis optimal 100 mg / m2

Sekarang : Sodium Levo Thyroxin 0,1 mg L Thyroxin = 60 100 Extract Thyroid Contoh: Thyrax (Organon) Euthyrox (Merck) Dosis 5-8 ug/kg BB

Diagnosis Banding Downs Syndrome Anak Pendek: 1.Kondrodistrofi (Akondroplasia) 2.Dwarfism Hipopituitarisme Defisiensi Growth Hormone 3.Turner Syndrome pada anak perempuan

Prognosis Bila terapi terlambat / tanpa terapi 1.Kematian o.k.: - Obstruksi saluran nafas - Infeksi 2.Growth Retardation 3.Maturasi otot terlambat 4.Mental Retardation 5.Sequele Nerologik : - inkoordinasi - ataksi - spastik - strabismus , dll

Prognosis Qu ad Vitam Bonam Dubia Malam - Infaust Qu ad sanationem Bonam Dubia Jelek Prognosis Cepatnya Diagnosis < 3 bulan rata-rata IQ 89 3 6 bulan rata-rata IQ 70 > 7 bulan rata-rata IQ 54 Etiologi IQ>85 Atierotik 41% Dishormogenesis 44% Ektopik 78%

MAKIN DINI TERAPI Potensi intelek makin tinggi Kelaianan nerologik makin kurang

PERLU UJI SARING (SCREENING TEST) PADA NEONATUS dipakai TSH

Endokrinologi Anak DD Hipotiroidisme:


KULIAH 2004 DOWNS SYNDROME (MONGOLISME) Satriono,M.Sc.,Dr.,SpA(K) BIKA FK UNHAS, Makassar

DOWNS SYNDROME (DS) 1866 J.L.H. Down : Downs Syndrome Insidens : 1-2 /1000 kelahiran

ETIOLOGI : 1959 Le Jeune dkk TRISOMI 21

TRISOMI 21 Trisomi Reguler 95 % Translokasi 4-5 % Mosaik - 1 %

Patogenesis division struktur Contoh Karyotype pasen

Gejala Klinik DS Retardasi Mental IQ 0-20 IDIOT IQ 21 50 IMBECIL Retardasi Motorik : (Umur 3 tahun pertama) Muka : FACIES MONGOLOID

Gejala Klinik DS Kepala Brakisefal UUB Lebar, Terlambat menutup Belakang Kepala datar

Gejala Klinik DS MATA Alis tipis Celah mata miring Epicanthus Katarak Nistagmus Strabismus Hipertelorisme Brusfields Spot Gejala Klinik DS HIDUNG Pesek LIDAH Makroglosi Lingua Skrotalis

RAHANG Hipopalsia PALATUM Letak tinggi GIGI Abnormal TELINGA Abnormal LEHER pendek

THORAKS: Kelainan Bentuk JANTUNG KJB - VSD ABDOMEN Hernia Umbilikalis Kelainan GI : Megakolon OTOT Hipotoni PELVIS Kecil

Dermatoglifik

Dermatoglifik DS TANGAN: Simian line, Sydney line Garis fleksi distal jari V menghilang UJUNG JARI: Lengkung Ulna TELAPAK TANGAN: Sudut atd > 45 (posisi t, t, t) TELAPAK KAKI: Halux : Busur tibia Lengkung distal kecil

X Ray Panggul DS Sudut ilium (i) < 60 Sudut asetabulum (a) < 16 Iliac index = ika + iki + aka + aki 2 Normal > 80

X Ray Panggul DS

Diagnostik DS A.GEJALA KLINIK B.GEJALA YG DPAT DIKUANTIFIKASI: Anthropometrik : BB, TB, LK Upper:lower body segment>N UKURAN PANGGUL DERMATOGLIFIK C.PEMERIKSAAN KROMOSOM

Diagnostik DS DERMATOGLIFIK SCORE CARD : Walker Beckman (Uppsalla)

Reed (Univ.Indiana): 1.Pola halux kanan 2.Sudut atd kanan 3.Pola telunjuk kanan 4.Pola telunjuk kiri

Pencegahan DS GENETIC COUNSELLING Tipe translokasi ok mutasi - familial Perlu pemeriksaan kromosom anggota keluarga IBU Balanced translocation Perlu diagnostik antenatal

Prognosis DS LEBIH BAIK daripada jaman dulu KEMATIAN ok : Peneumonia CHD Kelainan kongenital Lekemia Infeksi

Terapi DS Tak ada oleh karena kongenital Terapi simptomatik infeksi Koreksi kelainan STIMULASI DINI

Endokrinologi Anak

DIABETES MELLITUS PADA ANAK



Diabetes Mellitus in Children

Diabetes mellitus is a syndrome of disturbed energy homeostasis caused by a deficiency of insulin or of its action and resulting in abnormal metabolism of carbohydrate, protein, and fat. It is the most common endocrine-metabolic disorder of childhood and adolescence with important consequences for physical and emotional development.

TABLE XXVI-1 Summary of Classification of Diabetes Mellitus in Children andAdolescents*

ClassificationCriteria

1. Insulindependent (IDDM, type I)Typical manifestations: glucosuria, ketonuria, randomplasma glucose (PG) >200 mg/dL

2. Noninsulin-dependent(NIDDM, type II)FPG >140 mg/dL and 2-hr value >200 mg/dL OGTTon more than one occasion and in absence ofprecipitating factors

3. Other typesType I or II criteria in association with certain geneticsyndromes (including cystic fibrosis), otherdisorders, and drugs (see text)

Impaired glucose tolerance (IGT)FPG 140 mg/dL duringOGTT

Gestational diabetes (GDM)Two or more of following abnormalities during OGTT:FPG >105 mg/dL; 1 hr, >190 mg/dL; 2-hr, >165mg/dL; 3 hr, >145 mg/dL.

Statistical risk classes

1. Previous abnormality of glucosetolerance

Normal OGTT following a previous abnormal one,spontaneous hyperglycemia or gestational diabetes

2. Potential abnormality of glucosetolerance

Genetic propensity (e.g., identical nondiabetic twin ofa diabetic sibling); islet cell antibodies

*Proposed by National Diabetes Data Group (Diabetes 28:1039, 1979) and endorsedby various diabetes associations worldwide.

PG =plasma glucose; FPG = fasting plasma glucose; = oral glucose tolerance test.

EPIDEMIOLOGY

Figure XXVI1. Incidence of insulin-dependent diabetes mellitus by country. (Adapted from LaPorte R, et al: Preventing insulin dependent diabetes mellitus: The environmental challenge. Br Med J 295:479, 1987.)

Males and females are almost equally affected; there is no apparent correlation with socioeconomic status. Peaks of presentation occur in two age groups: at 57 yr of age and at the time of puberty

ETIOLOGY AND PATHOGENESIS

Figure XXVI2. Proposed scheme of natural history of B-cell defect. (Adapted from Sperling MA [ed]: Physician's Guide to Insulin-Dependent [Type I] Diabetes Mellitus: Diagnosis and Treatment. Copyright (1988) by the American Diabetes Association. Reprinted with permission.)

PATHOPHYSIOLOGY

TABLE XXVI-2 Influence of Feeding (High Insulin) or of Fasting(Low Insulin) on Some MetabolicProcesses in Liver, Muscle, and Adipose Tissue*

HighPlasma Insulin(PostprandialState)Low Plasma Insulin(Fasted State)

Liver:Glucose UptakeGlucose production

GlycogenSynthesisGlycogenolysis

Absence of GluconeogenesisGluconeogenesis

LipogenesisAbsence of lipogenesis

AbsenceofketogenesisKetogenesis

Muscle:Glucose UptakeAbsence of glucoseuptake

GlucoseOxidationFatty acid and ketone oxidation

GlycogenSynthesisGlycogenolysis

ProteinSynthesisProteolysis and amino Acid release

Adipose tissue:Glucose UptakeAbsence of glucose uptake

Lipid SynthesisLipolysis and fatty acid release

Triglyceride UptakeAbsence of triglyceride uptake

*Insulin is considered to be the major factor governing these metabolic processes. Diabetes mellitusmay be viewed as a permanent lowinsulin state that, untreated, results in exaggerated fasting.

CLINICAL MANIFESTATIONS.

The classic presentation of diabetes in children is a history of polyuria, polydipsia, polyphagia, and weight loss. The duration of these symptoms varies but is often less than 1 mo. A clue to the existence of polyuria may be the onset of enuresis in a previously toilet-trained child. An insidious onset characterized by lethargy, weakness, and weight loss is also quite common.

The loss of weight in spite of an increased dietary intake is readily explicable by the following illustration: The average healthy 10-yr-old child has a daily caloric intake of 2,000 or more calories, of which approximately 50% are derived from carbohydrate. With the development of diabetes, daily losses of water and glucose may be as much as 5 L and 250 g, respectively. This represents 1,000 calories lost in the urine, or 50% of average daily caloric intake. Therefore, despite the child's compensatory increased intake of food and water, the calories cannot be utilized, excessive caloric losses continue, and increasing catabolism and weight loss ensue.

Pyogenic skin infections and monilial vaginitis in teenage girls are occasionally present at the time of diagnosis of diabetes. They are rarely the sole clinical manifestations of diabetes in children, and a careful history will invariably reveal the coexistence of polyuria and polydipsia.

Ketaocidosis is responsible for the initial presentation of many (approximately 25%) diabetic children. The early manifestations may be relatively mild and consist of vomiting, polyuria, and dehydration. In more prolonged and severe cases, Kussmaul respirations are present, and there is an odor of acetone on the breath.

Abdominal pain or rigidity may be present and may mimic appendicitis or pancreatitis. Cerebral obtundation and ultimately coma ensue.

LABORATORY FINDINGS : glucosuria, ketonuria, hyperglycemia, ketonemia, and metabolic acidosis. Leukocytosis is common, and nonspecific serum amylase may be elevated; serum lipase is usually not elevated.

DIAGNOSIS.

three general categories: (1) those who have a history suggestive of diabetes, especially polyuria with polydipsia and failure to gain weight or a loss of weight in spite of a voracious appetite; (2) those who have a transient or persistent glucosuria; and (3) those who have clinical manifestations of metabolic acidosis with or without stupor or coma.

In all instances the diagnosis of diabetes mellitus is dependent on the demonstration of hyperglycemia in association with glucosuria with or without ketonuria.

decreased C-peptide increased HbA1c

When classic symptoms of polyuria and polydipsia are associated with hyperglycemia and glucosuria, the glucose tolerance test is not needed to support the diagnosis

TREATMENT. INSULIN NUTRITION SUPPORT EXERCISE EDUCATION AND COUNSELING

INSULIN TREATMENT. The management of insulin-dependent diabetes mellitus may be divided into three phases depending on the initial presentation: that of ketoacidosis; the postacidotic or transition period for establishment of metabolic control; and the continuing phase of guidance of the diabetic child and his or her family.

The technique of injection of insulin should be taught to the parents and to the patient when he or she is ready for it. Injections are given subcutaneously, rotating sites on arms, thighs, buttocks, and abdomen in a regular sequence. An appropriate rotation helps to ensure adequate absorption of insulin, prevent fibrosis, and minimize lipodystrophic changes. With this rotation and the availability of the purer, single-peak insulins, lipoatrophy and lipohypertrophy are quite unusual. Younger children may find injections in the abdominal wall difficult or painful. Depending on their physical and psychologic maturity, children over the range of 10{endash}12 yr should be encouraged to administer their own insulin and to monitor their own responses to it.

COMPLICATION The major life-threatening complication in children treated for DKA is cerebral edema. Clinically, cerebral edema develops several hours after the institution of therapy, when clinical and biochemical indices may suggest improvement. The manifestations are those of raised intracranial pressure and include headache, alteration and deterioration in alertness and conscious state, "delirious outbursts," bradycardia, vomiting, diminished responsiveness to painful stimuli, and diminished reflexes. There may be a change in pupillary responsiveness with unequal pupils or fixed dilated pupils. Polyuria, secondary to development of diabetes insipidus, may be erroneously attributed to osmotic diuresis secondary to hyperglycemia, although diabetes mellitus and diabetes insipidus coexist. Prompt recognition of the condition as it evolves, and prompt therapy with mannitol and hyperventilation, can be lifesaving. Increasingly, evidence points to the conclusion that subclinical cerebral edema occurs in the majority of patients treated with fluids and insulin for DKA, and that in only a minority does it become clinically manifest as a medical emergency.

NEUROVASCULAR AND OTHER COMPLICATIONS: RELATION TO GLYCEMIC CONTROL. The increasingly prolonged survival of the diabetic child is associated with an increasing prevalence of complications that affect the microcirculation of : the eye (retinopathy), the kidney (nephropathy), the nerves (neuropathy), the large vessels (atherosclerosis), and the lens (cataracts). Retinopathy is present in 45{endash}60% of insulin-dependent diabetics after 20 yr of known disease and in 20% after 10 yr; lens opacities are present in at least 5% of those under 19 yr of age. Diabetic nephropathy is also common; it is present in about 40% of patients after 25 yr of insulin-dependent diabetes whose onset occurred in childhood; this complication may account for about 50% of deaths in long-term insulin-dependent diabetics.

Other complications described in diabetic children include dwarfism associated with a glycogen-laden enlarged liver (Mauriac syndrome), osteopenia, and a syndrome of limited joint mobility associated with tight, waxy skin, growth impairment, and maturational delay. The Mauriac syndrome is clearly related to underinsulinization; it is now rare because of the availability of the longer-acting insulins.

Another rare syndrome associated with diabetes mellitus is the Wolfram syndrome, also known as the DIDMOAD syndrome because of its major cardinal manifestations of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. The disease is familial with an autosomal recessive pattern of inheritance.

PROGNOSIS. Type I diabetes mellitus is not a benign disease. In one study of the long-term outcome of 45 children under 12 yr of age at the time of diagnosis, three were several deaths within 1025 yr of diagnosis: there were directly attributable to diabetes, and two were due to suicide; three patients attempted suicide unsuccessfully. Visual, renal, neuropathic, and other complications were relatively frequent. Furthermore, although diabetic children eventually attain a height within the normal adult range, puberty may be delayed, and the final height may be less than the genetic potential

Endokrinologi Anak

STRUMA PADA ANAK.



Struma (goiter,gondok) merupakan setiap pembesaran kelenjar tiroid. Anak dengan pembesaran kelenjar tiroid bisa memperlihatkan fungsi tiroid yang normal (eutiroidisme), fungsi tiroid yang kurang (hipotiroidisme), atau kelebihan produksi hormon tiroid (hipertiroidisme).

GRADASI Secara pemeriksaan fisik kelenjar tiroid disebut membesar bila ukurannya lebih besar daripada ruas terakhir ibu jari penderita. Gradasi pembesaran kelenjar tiroid pada survey GAKI di Indonesia Derajat O, 1 A, 1B , 2 dan 3. GRADASI WHO 0 , 1 ,2

Struma bisa digolongkan ke dalam : 1.Struma kongenital dan didapat. 2.Struma endemik dan sporadik. 3.Struma intratrakeal dan Struma ekstratrakeal

PATOFISIOLOGI TERJADINYA STRUMA: 1.Seringkali Struma timbul akibat meningkatnya TSH sebagai reaksi terhadap menurunnya hormon tiroid yang bersirkulasi. 2.Struma bisa muncul akibat proses infiltrasi berupa peradangan ataupun neoplasma. 3.Pada anak yang menderita tirotoksikosis Struma disebabkan oleh thyrotropin receptor stimulating antibodies (TRSAb).

Gambar 1. Seorang anak perempuan dengan struma endemik di Sulawesi Selatan yang memperlihatkan gejala hipotiroidisme

PENGOBATAN STRUMA DI DAERAH ENDEMIK Pemberian iodium dalam minyak secara intra muskuler pada ibu akan mencegah defisiensi Iodium kehamilannya yang akan dating selama 5 tahun.

Terapi semacam ini pada anak berumur kurang 4 tahun yang menderita kretinisme dengan myxedema akan membuat euthyroidisme dalam waktu 5 bulan.

Tetapi responnya sangat sedikit pada anak yang lebih tua dan tidak sama sekali pada orang dewasa, hal ini menunjukkan ketidak mampuan kelenjar tiroid mengsintesis; Penderita ini memerlukan pengobatan dengan T4 . (Nelson 16)

PENGOBATAN STRUMA SPORADIK

T4 treatment is indicated in patients with high serum TSH concentrations, in whom it may result in a decrease in goiter size. Patients who are euthyroid can also be treated with T4 in an attempt to reduce the goiter, but it is not often effective. (LaFranchi, 2001)

Endokrinologi Anak

GANGGUAN PERTUMBUHAN , PENGGUNAAN GROWTH CHART.



SPM PERAWAKAN PENDEK

Pendahuluan Perawakan pendek atau short stature merupakan suatu terminologi mengenai panjang/tinggi badan yang berada di bawah persentil 3 atau 2SD pada kurva pertumbuhan yang berlaku pada populasi tersebut. Perawakan pendek dapat merupakan variasi normal perawakan pendek dan dapat disebabkan berbagai kelainan endokrin maupun non endokrin. Ada beberapa klasifikasi perawakan pendek yaitu : a. Varian normal (umumnya familial atau penyebab tidak diketahui) b. primer / instrinsic ( kelainan pada sel atau struktur dari growth plate ) c. sekunder / external (kelainan karena pengaruh luar dari growth plate) d. Perawakan pendek Idiopatik

a. Varian Normal Merupakan variasi normal perawakan pendek : 1. Familial/genetic short stature Tanda2 : pertumbuhan selalu dibawah p.3 Kecepatan pertumbuhan normal (sekitar 2.5th centile ) Umur tulang sesuai umur kronologis Riwayat keluarga pendek terutama salah satu atau kedua orang tua pendek ( genetically short) Tinggi akhir dibawah p.3 tetapi masih dalam range potensi tinggi genetik Onset pubertas normal

2. Constitutional delay of growth and puberty/maturation Tanda2 : Perawakan pendek saat masa anak2 Perlambatan pertumbuhan linier pada 3 tahun pertama kehidupan Pertumbuhan linier normal atau hampir normal pada saat prepubertas dan selalu berada dibawah p.3 Umur tulang terlambat tetapi masih sesuai dengan height age Onset pubertas terlambat Tinggi akhir dalam batas normal Biasanya ada riwayat pubertas terlambat dalam keluarga

b. Perawakan pendek primer / instrinsik 1.Sindrom-sindrom yang dihubungkan dengan kelainan kromosom Sindrom Turner Sindrom Down 2.Sindrom sindrom lain, misalnya: Sindrom Noonan Sindrom Prader-Labhart-Willi Sindrom Russell Silver Sindrme Seckel Sindrom Hutchinson Gilfort Sindrom Cockayne 3.IUGR, yang disebabkan genetik atau kelainan metabolik Adanya kelainan saat dalam kandungan oleh infeksi, obat-obatan, alkohol,dll Disfungsi plasenta berat 4.Skeletal dysplasia/osteochondrodysplasia Achondroplasia Hypochondroplasia Hypophosphatemic rickets 5. Storage disorders (jarang) Mucopolysaccharidoses Glycogen storage disease Osteogenesis imperfecta

c. Perawakan pendek sekunder / extrinsik 1. Penyakit / kelainan sistemik (chronic disease) Misalnya kelainan jantung, paru, liver, intestinal, renal, hematologi, CNS dan generalized inflammatory disease, infeksi kronik, anemia kronik,malabsorbsi 2. Malnutrisi 3. kelainan endokrin Hipotiroid Growth hormon defisiensi IGF-1 defect Pseudohypoparathyroidism The cushing sindrom Mauriac syndrome (karena regulasi glukosa yang jelek pada pasien diabetes mellitus) Hypogonadism Rickets 3. Metabolik disorders Beberapa inborn errors of metabolism misalnya sindrom Bartter 4. Iatrogenic short stature Terapi steroid, radiasi 5. Psychososial short stature atau emotional ( Psychosocial dwarfism)

d. Perawakan pendek idiopatik Tidak dijumpai kelainan

Pemantauan kecepatan pertumbuhan sangat dibutuhkan untuk menilai normal tidaknya pertumbuhan anak Deteksi dini penyimpangan pertumbuhan diperlukan untuk pemberian terapi lebih awal sehingga memberi hasil yang optimum

Langkah Promotif / Preventif Penilaian pertumbuhan merupakan hal penting bagi dokter anak dan kesehatan anak komunitas. Beberapa kondisi lokal atau sistemik dapat berakibat buruk terhadap pertumbuhan . Analisis proses pertumbuhan mempunyai peran penting sebagai suatu langkah awal dari evaluasi. Pengukuran tinggi badan merupakan hal yang mudah dilakukan dan tidak memerlukan peralatan canggih dan dapat dilaksanakan secara rutin sejak mulai bayi seperti halnya berat badan. Anak 0-12 bulan setiap bulan Anak 1-2 tahun setiap 3 bulan Anak 2-12 tahun setiap 6 bulan 12 tahun-akhir pubertas setiap tahun

Interpretasi hasil pengukuran : 1. Bila tinggi badan diantara 2SD dan 3SD, 80% merupakan varian normal. Bila dibawah 3SD 80% merupakan patologis. 2. Penurunan kecepatan pertumbuhan anak antara umur 2 - 12 tahun (memotong beberapa garis persentil) harus dianggap patologis kecuali dibuktikan lain. 3. Ratio TB dan BB mungkin bisa mempunyai nilai diagnostik dalam menentukan etiologi. (Pada kelainan endokrin umumnya tidak mengganggu BB sehingga anak terlihat gemuk.Kelainan sistemik umumnya lebih mengganggu BB dibanding TB sehingga anak lebih terlihat kurus)

Langkah Diagnostik I.Anamnesis (lihat tabel) -Pola pertumbuhan anak (berat badan dan tinggi badan mulai bayi) -Riwayat kehamilan ibu -Riwayata kelahiran dan perkembangan fisis -Riwayat penyakit kronis , operasi dan obat obatan -Riwayat penyakit dalam keluarga -Riwayat pubertas orang tua -Riwayat nutrisi/ diet -Aspek psikososial

-Target height / mid parental height : Laki laki = {TB ayah + (TB Ibu + 13 )} x Perempuan = {TB Ibu + (TB ayah 13 )} x -Prakiraan tinggi dewasa ( potensi tinggi genetik) dapat dihitung dari midparental height dengan rumus :

Potensi tinggi genetik = mid parental height 8,5 cm

( Potensi tinggi genetik adalah: Rentang nilai tinggi badan akhir seseorang akibat dari kedua orang tua biologis )

II.Pemeriksaan fisis -Tinggi Badan,Berat Badan, rentang lengan, tinggi duduk ( proporsi tubuh ), lingkar kepala Tubuh yang tidak proporsional dapat terlihat pada beberapa kelainan tulang, kelainan dismorfik seperti sindrom2 ttt -Ada tidaknya stigmata dismorfik /sindrom -Ada tidaknya kelainan tulang -Ada tidaknya kelainan GIT, paru, jantung, urogenital ,kulit dan organ lain -Ada tidaknya kelainan /gejala neurologi -Status pubertas/ tingkat maturasi kelamin -Pemeriksaan fisik lain

III.Pemeriksaan penunjang: (lihat tabel 2) -Lab rutin mencari penyebab infeksi sistemik : DL / UL / FL -Bone age / umur tulang

Kriteria awal untuk melakukan pemeriksaan lanjutan anak dengan perawakan pendek: 1. TB dibawah persentil 3 atau 2SD 2. Kecepatan tumbuh dibawah persentil 25 3. Prakiraan tinggi dewasa dibawah target height 4. Umur tulang (bone age) terlambat

Pemeriksaan lanjutan -Fungsi tiroid -Analisis kromosom ( pada wanita) : untuk diagnosis sindrom Turner -Uji stimulasi / provokasi untuk hormon pertumbuhan (harus dilakukan oleh dokter di sub.endokrinologi anak)

Terapi

I.Medikamentosa

Pengobatan anak dengan perawakan pendek harus sesuai dengan dasar etiologinya. Anak dengan variasi normal perawakan pendek tidak memerlukan pengobatan, sedang dengan kelainan patologis terapi sesuai dengan etiologinya. : nutrisi penyakit organik hormonal mechanikal/pembedahan

Untuk terapi hormon pertumbuhan

( dilakukan atas advis dan pengawasan dokter di sub.endokrinologi anak ) :

Sebelum terapi dimulai , kriteria anak dengan defisiensi hormon pertumbuhan harus terlebih dahulu ditetapkan :

1. TB dibawah persentil ke3 atau 2SD 2. Kecepatan tumbuh dibawah p.25 3. Usia tulang terlambat > 2 tahun 4. Kadar GH < 10 ng/ml pada uji provokasi 5. Tidak ada dismorfik, kelainan tulang maupun sindrom tertentu.

Disamping terapi untuk anak dengan defisiensi hormon pertumbuhan, terapi ini diberikan juga untuk anak dengan sindrom Turner, sindrom Noonan, anak dengan IUGR, gagal ginjal kronik, sindrom Prader Willi, sindrom Leri-weill

Hormon pertumbuhan ini diberikan secara sc dengan dosis 2 IU/m2/hari atau 0,05 mg/kg/hari pada defisiensi hormon pertumbuhan dan 0,08 mg/kg/hari untuk sindroma Turner dan kronik renal insuffisiensi Pemberian diberikan sebanyak 6 kali perminggu Komplikasi terapi hormon pertumbuhan : Pseudotumor serebri karena retensi air dan natrium ( idiopathic intracranial hypertension) : sangat jarang FT4 rendah ( transient) Insulin resistance (jarang) Kontraindikasi terapi hormon pertumbuhan Bloom syndrome

II.Bedah

Pada kasus tertentu misalnya skeletal dysplasia diperlukan koreksi mechanical / pembedahan.(bone lengthening) Juga pada kasus karena tumor

III.Suportif psychosocial

IV.Lain-lain (rujukan subspesialis, rujukan spesialisasi lainnya dll)

Sesuai etiologi

Pemantauan (Monitoring)

I.Terapi Monitoring tinggi badan dan efek samping Terapi hormon dihentikan bila lempeng epifisis telah menutup atau respon terapi tidak adekuat. Ciri respon terapi yang tidak adekuat bila pertambahan kecepatan pertumbuhan lebih kecil dari 2 cm dalam 6 bulan Bila ada efek samping pseudotumor cerebri karena retensi air dan natrium ( pada umumnya di bulan pertama) dengan keluhan sakit kepala, mual, pusing, ataxia atau gangguan penglihatan terapi sementara dihentikan

II.Tumbuh Kembang

Perawakan pendek patologis pasti akan berpengaruh pada tumbuh kembang anak. Diagnosis dini dan terapi dini akan memperbaiki tumbuh kembang anak

Lampiran tambahan khusus untuk tabel, gambar, algoritma.

2. Tabel Perbedaan normal usia kronologis dan usia tulang

Usia kronologis (tahun)

( 2 SDLaki-lakiperempuan

3-6 bulan0-10-1

1-1,5 tahun3-42-3

2 tahun7-116-10

> 2 tahun13-1412-13

(Dikutip dari : Hung Wellington. Growth and development: normal and variant .In:Moore WT, Eastman. DiagnosisEndocrinology, 2nded,Mosby,1996,52-63

3.Tabel :Important historical features in the evaluation of short stature

Historical featuresDiagnostic implications

Maternal History

Length of gestation, previous abortions, complications of pregnancy, smooking, alcohol and drug useFetal alcohol syndrome, Fetal hydantoin syndrome, TORCH infection

Anthropometric values

Birth length and weight, dysmorpholismIUGR, Turner syndrome, other short stature syndrome

Neonatal and developmental history

Neonatal hypoglycemia, prolong neonatal jaundice, developmental milestonesHypopituitarism, Hypothyroidism

Nutritional history

Inadequate caloric intakeFailure to thrive

Psychosocial history

Child abuse or neglectPsychosocialshort stature

Family history

Genetic syndromeSkeletal dysplasia, inborn errors of metabolism

Family heights, age of onset of puberty, age of menarcheFamilialshort stature, constitutional delayed growth, sexual maturation

Review of systems

Spesific chronic organic disordersCardiac, pulmonary, hepatic, renal disorders

Medical history

Glucocorticoid, stimulantDrug-induced growth retardation

(Dikutip dari : Hung Wellington. Growth and development: normal and variant .In: Moore WT, Eastman. Diagnosis

Endocrinology, 2nded, Mosby,1996,52-63

4. Tabel pemeriksaan penunjang dan kelainan klinis

Pemeriksaan klinisKelainan klinis

Bone age

Analisis chromosomFSHSindoma Turner

Skrining penyakit sistemik pemeriksaan darah lengkap

laju endap darah

albumin, creatinin, Na,K,

analisis gas darah TSH dan Free T4

Calcium,phoshor,alkaline

Phosphat

Urine rutin dan cultur AnemiaTuberkulosisGagal ginjal kronik, Renal tubular asidosis

Hipotiroid

Vit D defisiensi, Rickets, hypophosphatemia

Infeksi ginjal

GH / IGF-1 axis IGF-1 dan IGFBP-3

Tes stimulasi hormon Defisiensi hormon pertumbuhan

Pencitraan Bone survey

USG kepala Skeletal dysplasiaAdanya defek struktural yang dihubungkan dengan defisiensi hormon pertumbuhan atau defisiensi hormon hipofisis multiple pada bayi

CT scan atau MRIEtiologi defisiensi hormon pertumbuhan

GROWTH CHART

Satriono, M.Sc., SpA(K)


BB / TB ANAK LAKI-LAKI UMUR 00 - 36 BULAN

BB / TB ANAK PEREMPUAN UMUR 00 - 36 BULAN

BMI UNTUK ANAK LAKI-LAKI

BMI UNTUK ANAK PEREMPUAN

Endokrinologi Anak

KELAINAN GENITALIA PADA ANAK



GENITAL DISORDERS IN CHILDREN

MICROPENIS The length of the normal newborn penis is 3.5 0.7 cm. Micropenis ----- < 3 cm (Age 1 11 yr)

Etiology Micropenis results from primary or secondary testicular failure during fetal life after morphogenesis is complete. Secondary congenital testicular failure is seen in anencephaly, pituitary agenesis, and Kallmann, Noonan, Prader-Willi, and other syndromes. Other cases may be due to the presence of rudimentary testes, dwarfism, or maternal hormone administrations.

Etiology

Gonadotropin deficiency GH deficiency --- Micropenis +hypoglycemia Hypopituitarisme, pituitary agenesis,dwarfism Anencephaly, Anorchia, Rudimentary testes Kallmann, Noonan, Prader-Willi syndromes. Maternal hormone administrations.

Treatment

Treatment options include a trial of hormonal stimulation (testosteron) , or rearing as female, with later genital reconstruction.

Adjustment to the male gender role and sexual satisfaction is possible in some of these patients. Agenesis of the penis Agenesis of the penis is rare and usually associated with anorectal and renal anomalies. If the child is likely to survive the associated anomalies, rearing as a female is recommended, with later genital reconstruction.

UNDESCENDED TESTES

UNDESCENDED AND ECTOPIC TESTES. Failure to find one or both testes in the scrotum may indicate any of a variety of congenital or acquired conditions, including true undescended testes, ectopic or maldescended testes, retractile testes, and absent testes.

True undescended testes and maldescended or ectopic testes can be differentiated from each other only by surgical exploration, and both conditions usually are referred to as cryptorchidism or hidden testes.

The true undescended testis is found along the normal path of descent, and the processus vaginalis is usually patent. The ectopic testis has completed its descent through the inguinal canal but ends up in a subcutaneous location other than the scrotum, the most common being a point lateral to the external inguinal ring, below the subcutaneous fascia.

CRYPTORCHIDISM Cryptorchidism is present in 0.7% of children after 1 yr of age and in adults. The incidence is high in full-term newborns (3.4%) and increases with prematurity (to 17% in infants with birthweights between 2,000 and 2,500 g and to 100% in those under 900 g). This reflects the fact that testicular descent from the inguinal canal into the scrotum takes place in the 7th mo of gestation. Spontaneous testicular descent does not occur after the age of 1 yr.

The consequences of cryptorchidism include infertility in adulthood, tumor development in the undescended testes, associated hernias, torsion of the cryptorchid testis, and the possible psychologic effects of an empty scrotum. Cryptorchidism is bilateral in up to 30% of cases. Infertility is the rule in adults with untreated bilateral cryptorchidism, and of those treated in childhood less than one third will be fertile. With unilateral undescended testis, the rate of infertility is probably similar to that in the general population.

The undescended testis is often histologically normal at birth, but failure of development and atrophy are detectable by the end of the 1st yr of life, and by the end of the 2nd yr the number of germ cells in the affected testis is severely reduced. Surgical correction at an early age results in a greater probability of fertility in adulthood. The patient with cryptorchidism has a 20{endash}44% increase in risk of developing a malignant testicular tumor in the 3rd or 4th decade of life. Patients with untreated intra-abdominal cryptorchidism or those who underwent surgical correction during or after puberty are at greatest risk. Although surgical correction of the cryptorchidism may not change the overall risk of malignant transformation, very few cases of tumors have been reported in patients whose operations were performed before 8 yr of age. Carcinoma in situ is occasionally discovered when the testis is biopsied at the time of orchiopexy or during evaluation for infertility later in life; its significance is unclear. The most common tumor developing in undescended testes is the seminoma (60%); in contrast, seminomas represent only 30% of tumors occurring in normally descended testes. Indirect inguinal hernias always accompany true undescended testes and are common with ectopic testes. Torsion and infarction of the undescended testis can occur because of excessive mobility of such testes. The treatment of the unilateral cryptorchid testis is best undertaken early in the 2nd yr of life. Most testes located extra-abdominally can be brought down to the scrotum and the associated hernia corrected with an operation (orchiopexy). This can often be performed without hospitalization. When the testis is not palpable, preoperative laparoscopy is used to determine its location. In the majority of cases, orchiopexy of the intra-abdominal testis located immediately inside the internal inguinal ring offers little difficulty, but orchiectomy should be considered in the more difficult cases or when the testis appears to be severely atrophied. Two-stage orchidopexy is sometimes needed in high abdominal testes. Testicular prostheses are available for older children and adolescents when the absence of the gonad in the scrotum may have an undesirable psychologic effect but, the advisability of using silicone implants has been questioned.

Treatment of bilateral undescended testes is identical to the treatment of unilateral undescended testis when the testes are palpable. When testes are not palpable, however, differential diagnosis must be made from absent testes by measuring serum testosterone levels before and after stimulation with human chorionic gonadotropin (hCG). If the testosterone level rises, an abdominal exploration and orchiopexy should be undertaken. A negative response does not rule out the possible existence of intra-abdominal testicular tissue. An attempt is made to preserve these gonads for hormonal production after puberty; the likelihood of preserving fertility is very low.

Hormonal treatment Hormonal treatment with

hCG or luteinizing hormonereleasing hormone (LH-RH) .

Some believe that preoperative treatment with hCG facilitates surgery.

Recent reports on the advantages of hormonal treatment with LH-RH followed by HCG for nonresponders, and early surgery for the 60% of testes that fail to descend, need to be weighed against potential detrimental effects on pubertal penile growth of early exposure of the penile receptors to testosterone.

RETRACTILE TESTES. These testes retract into the inguinal canal in response to an exaggerated cremasteric reflex. The cremasteric reflex is weak or absent at birth. Consequently, when testes that were palpable at birth become nonpalpable later, retractile testes should be suspected. Retractile testes can be brought down by careful palpation when the child is relaxed in a warm room, and scrotal examination is facilitated if the child is in a squatting position. Often more than one examination is required to establish the diagnosis. The retractile testis usually adopts a permanent scrotal position during puberty and has none of the complications commonly associated with the true undescended or ectopic testis.

ABSENT TESTES. Approximately 20% of nonpalpable testes are absent. Congenital absence of the testis is possible, but it is quite rare and may be associated with some degree of feminization of the internal organs on the ipsilateral side. More commonly, the fetal testis disappears some time after the differentiation of the internal and external genitalia has occurred. This vanishing of the testis is usually attributed to a vascular accident that has taken place prenatally or after birth but was not recognized clinically. At exploration, the spermatic vessels and the vas deferens end blindly, usually somewhere in the inguinal region or in the scrotum. Because this condition is analogous to testicular torsion, some authors advocate fixation of the contralateral testis to prevent torsion from occurring in the remaining gonad. In these cases, placement of a testicular prosthesis can be considered as well.

Endokrinologi Anak

HIPERPLASIA ADRENAL KONGENITAL.



Congenital Adrenal Hyperplasia

PATHOGENESIS. When the adrenogenital syndrome is associated with congenital adrenal hyperplasia, it is caused by a family of autosomal recessive disorders of adrenal steroidogenesis leading to a deficiency of cortisol . The deficiency of cortisol results in increased secretion of corticotropin, which leads in turn to adrenocortical hyperplasia and overproduction of intermediary metabolites. Severe and mild forms of these disorders, caused by variations in the severity of the genetic mutations, have been reported.

Congenital Adrenal Hyperplasia Deficiency of 21-hydroxylase accounts for 95% of affected patients.

CLINICAL MANIFESTATIONS Most patients with congenital adrenal hyperplasia have the defect in 21-hydroxylation and exhibit the classic form of the disease. with screening 75% of infants are salt losers, without screening 50% of clinically diagnosed infants are salt losers, presumably because of undiagnosed neonatal deaths.

Figure 5292. A, A 6-yr-old girl with congenital virilizing adrenal hyperplasia. The height age was 8.5 yr; the bone age was 13 yr; and urinary 17-ketosteroids were 50 mg/24 hr. B, Notice the clitoral enlargement and labial fusion. C, Five-yr-old brother of girl in A was not considered to be abnormal by the parents. The height age was 8 yr; the bone age was 12.5 yr; and the urinary 17-ketosteroids were 36 mg/24 hr.

Figure 5293. Three female pseudohemaphrodites with untreated congenital adrenal hyperplasia. All were erroneously assigned male sex at birth, and each had normal female sex-chromosome complement. Infants A and B were salt losers and were diagnosed in early infancy. Infant C was referred at 1 yr of age because of bilateral cryptorchidism. Notice the completely penile urethra; such complete degrees of masculinization in females with adrenal hyperplasia are rare; most of these infants are salt losers.

LATIHAN BELAJAR HIPOTIROIDISME Satriono, M.Sc., SpA(K)

1.DEFINISI Hipotiroidisme: 1 .Defisiensi hormon T4 2.Defisiensi hormon tiroksin 3.Defisiensi hormon T3 4.Defisiensi hormon triiodo tironin

2.Penyebab terbanyak Hipotiroidisme Kongenital dengan gejala struma. A.Disgenesis /Atireosis tiroid. B.Dyshormogenesis C.Obat-obatan (KJ, Goitrogen) D.Thyroid HormonE Unresponsiveness E.Defisisensi TSH

3. Simptom HIPOTIROIDISME BAYI sebagai berikut, KECUALI A.Obstipasi B.Malas menetek (Minum susu) C.Bayi hiper aktif D.Ikterus neonatorum Prolongatus E.Hipotermi

4.Signs (Gejala Klinik) HIPOTIROIDISME BAYI yang disebabkan tiroid ektopik: 1.Hipotoni 2. Distenden Abdomen 3.Hernia umbilikaslis 4.Gondok

5.Signs (Gejala Klinik) HIPOTIROIDISME BAYI sebagai berikut, KECUALI A.Syndney Line B.Gondok C. Jantung : Kardiomegali D.Jantung: Bising + E. Fontanela post terbuka waktu lahir

6. Simtom HIPOTIROIDISME ANAK 1.Pertumbuhan Mental terlambat 2.Pertumbuhan Fisik terlambat 3.Pertumbuhan Dentisi erlambat 4.Pertumbuhan Pubertas terlambat

7.Signs (Gejala Klinik) HIPOTIROIDISME ANAK 1.Goiter bisa ada / tidak 2.Kulit: Pucat 3.Kulit: Tebal, 4.Kulit:Karotinemik,

8. Pemeriksaan X Ray pada HIPOTIROIDISME ANAK : 1. disgenesis epifisis (Wilkin) 2. iliac index meningkat 3. Bone Age terlambat 4. sudut asetabulum menurun

9. Pemeriksaan yang tak terlalu perlu dikerjakan pada hipotiroidisme bayi/anak: A.Scanning Tiroid B.EEG C.EKG D.EMG (Electromyogram) E. BMR

10.Diagnostik HIPOTIROIDISME : 1.Hiperkolesterolemia 2.Hb rendah 3. Bone Age terlambat 4.TSH sensitif meningkat

11.Diagnostik HIPOTIROIDISME : 1.Hipotoni 2.Ikterus neonatorum Prolongatus 3. Bone Age terlambat 4.EKG Low Voltage

12. Sekarang untuk terapi hipotiroidisme digunakan: 1. Sodium Levo Thyroxin 2. Thyrax (Organon) 3. Euthyrox (Merck) 4.Thyranon

13.Penyakit/Kelainan yang harus di Diagnosis Banding dengan hipotiroidisme: 1.Kondrodistrofi 2.Dwarfism 3.Turner Syndrome 4.Downs Syndrome

14.Bila hipotiroidisme diterapi terlambat / tanpa terapi akan berakibat 1.Kematian o.k.: Obstruksi saluran nafas 2.Kematian o.k.: Infeksi 3.Mental Retardation 4.Sequele Nerologik : inkoordinasi

15. UJI SARING (SCREENING TEST) HIPOTIROIDISME KONGENITAL PADA NEONATUS dipakai : A.TRH B.TSH C.TBG D.T3 E.T4

16. Hal-hal yang benar mengenai seorang anak laki-laki yang didiagnosis hipotiroidisme pada umur 3 tahun kemudian mendapat terapi hormone tiroksin adekuat selama 4 tahun , keadaannya pada umur 7 tahun: 1. Height Age (Umur Perawakan) = 7 tahun. 2. IQ rendah . 3. Bone Age (Usia tulang) = 7 tahun 4. Bradikardi

17..KLASIFIKASI HIPOTIROIDISME berdasarkan terjadinya A.. HIPOTIROIDISME KONGENITAL & HIPOTIRODISME DIDAPAT (ACQUIRED) B. HIPOTIROIDISME ENDEMIK & HIPOTIROIDISME SPORADIK C. HIPOTIROIDISME BAYI & HIPOTIROIDISME ANAK D. HIPOTIROIDISME PRIMER,SEKUNDER,TERTIER E. HIPOTIROIDISME DENGAN STRUMA & HIPOTIROIDISME TANPA STRUMA

18.Penyebab terbanyak Hipotiroidisme didapat (Acquired) sporadik: A.Operasi B.Auto immune Disease- Tiroidits Limfositik Kronik (HASHIMOTO) C.Infeksi D.Obat-obatan E.Defisiensi Iodium

19. Simptom HIPOTIROIDISME BAYI sebagai berikut, KECUALI A.Obstipasi B.Malas menetek (Minum susu) C.Letargi - mau tidur saja D.Ikterus neonatorum Prolongatus E.Makroglosi

20.Signs (Gejala Klinik) HIPOTIROIDISME BAYI : 1. Jantung : Kardiomegali 2.Jantung: Bising + 3. Fontanela post terbuka waktu lahir 4.Brusfield's spot

21.Signs (Gejala Klinik) HIPOTIROIDISME BAYI sebagai berikut, KECUALI A.Hernia umbilikaslis B.miksedema C.Nystagmus D.Hipotoni E.Muka Sembab

22. Simtom HIPOTIROIDISME ANAK 1.Gemuk 2.Struma 3.Bodoh 4.Cold Intolerance

23.Signs (Gejala Klinik) HIPOTIROIDISME ANAK 1.Kulit: Dingin, 2.Miksedema 3.Hipotoni Otot Lembek 4.APR , KPR Lambat 24. Pemeriksaan Hormonal pada HIPOTIROIDISME ANAK : 1.Free T4 menurun 2. TSH sensitif menningkat 3.T4 total menurun 4.TSH meningkat

25.Untuk bedakan H Primer dan H Sekunder dlakukan : A.Uji TSH B.Uji TRH C.Uji haus D.EMG E.TSH Screening Test

26.Diagnostik HIPOTIROIDISME : 1 Free T4 menurun 2.EEG Low Voltage 3.EKG Low Voltage 4.EMG (Electromyogram) memanjang

27.Diagnostik HIPOTIROIDISME : 1.Muka Sembab 2.Hipotermi 3.TSH sensitif meningkat 4.EMG (Electromyogram) memanjang

28. Pengobatan hipotiroidisme kongenital: 1. Dilakukan untuk seumur hidup. 2.Menggunakan obat ekstrak tiroid. 3.Menggunakan sodium levo thyroxin 4.Menggunakan obat steroid.

29.Penyakit/Kelainan yang harus di Diagnosis Banding dengan hipotiroidisme: 1.Akondroplasia 2.Hipopituitarisme 3.Turner Syndrome 4.Downs Syndrome

30.Bila hipotiroidisme diterapi terlambat / tanpa terapi akan berakibat 1.Kematian o.k.: Obstruksi saluran nafas 2.Kematian o.k.: Infeksi 3.Mental Retardation 4.Sequele Nerologik : ataksi,spastik

31. Laboratory evidence of classic congenital hypothyroidism in a sample of blood taken on the third day of life includes A. elevated TSH, low T4 B. elevated TSH, high T3 C. low TSH, low T4 D. low T4, high T3 E. low TBG, low T4

32.Penyebab Hipotiroidisme Kongenital dengan kadar free T4 yang normal.. A.Disgenesis /Atireosis tiroid. B.Dyshormogenesis C.Obat-obatan (KJ, Goitrogen) D.Thyroid HormonE Unresponsiveness E.Defisisensi TSH

LATIHAN BELAJAR HIPOTIROIDISME DD NYA DOWN'S SYNDROME Satriono, M.Sc., SpA(K)


1. DOWNS SYNDROME (DS) 1.Dipublikasi pertama kali tahun 1866 2.Disebut juga Mongolisme 3.Insidens : 1-2 /1000 kelahiran 4.Etiologi dikemukanan oleh Le Jeune dkk tahun 1959

2. TRISOMI 21 pada down syndrome 1. Trisomi Reguler 95 % 2. Translokasi 4-5 % 3.Mosaik - 1 % 4.Yang menemukan Le Jeune dkk tahun 1959

3.Gejala Klinik DS pada MATA 1.Nistagmus 2.Strabismus 3.Hipertelorisme 4.Brusfields Spot

4.Gambar di samping ini ini adalah : A.ARCUS = BUSUR B.LOOP = LENGKUNG C. TRI RADIUS D.PUSARAN (WHORL) E. TENTED ARCH

LATIHAN BELAJAR DIABETES MELLITUS PADA ANAK Satriono, M.Sc., SpA(K)


Diabetes mellitus in Children: 1. is a syndrome of disturbed energy homeostasis caused by a deficiency of insulin and resulting in abnormal metabolism of carbohydrate, protein, and fat. 2.It is the most common endocrine-metabolic disorder of childhood and adolescence . 3.important consequences for physical and emotional development. 4 is a syndrome of disturbed energy homeostasis caused by insulin action and resulting in abnormal metabolism of carbohydrate, protein, and fat.

2. Classification of Diabetes Mellitus in Children and Adolescents for. Insulindependent (IDDM, type I): based on criteria: 1glucosuria 2. ketonuria, 3.random plasma glucose (PG) >200 mg/dL 4.FPG 140 mg/dL during OGTT

3.Diabetes mellitus in Children: 1.Males and females are almost equally affected; 2.there is no apparent correlation with socioeconomic status. 3.Peaks of presentation occur at 57 yr of age 4.Peaks of presentation occur at the time of puberty

4.The classic presentation of diabetes in children : 1. polyuria, 2.polydipsia, 3.polyphagia, 4.weight gain

5. Ketaocidosis in diabetic children. 1. approximately 25% of diabetic children 2.The early manifestations consist of vomiting. 3.The early manifestations consist of polyuria.. 4.The early manifestations consist dehydration.

5. Ketaocidosis in diabetic children. 1. approximately 95% of diabetic children 2.The early manifestations consist of vomiting. 3.The early manifestations consist of dysuria.. 4.The early manifestations consist dehydration

5.Clinical sign In diabetic children with more prolonged and severe cases of Ketaocidosis : A.vomiting. B. polyuria.. C. dehydration D.Kussmaul respirations E. Dispnoe deffort.

. 6.The diagnosis of diabetes mellitus in children based on the demonstration of : 1.hyperglycemia 2.glucosuria with or without ketonuria. 3.decreased C-peptide 4.increased HbA1c

7.the principle of treatment of diabetes mellitus in children : 1.insulin 2.nutrition support 3.exercise 4.education and counseling

8. Hal-hal yang ada hubungannya dengan PROGNOSIS DM pada anak: 1.Sering terdapat komplikasi Visual dan mata. 2.Pubertas dapat terlambat 3.Dilaporkan adanya kematian akibat bunuh diri. 4.Tinggi badan akhir masih dalam batas normal .

LATIHAN BELAJAR STRUMA PADA ANAK. Satriono, M.Sc., SpA(K)


Gradasi pembesaran kelenjar tiroid menurut WHO: A.Derajat O, 1 A, 1B , 2 dan 3. B.Derajat O, 1 , 2 dan 3. C.Derajat O, 1 A, 1B , 2 D.Derajat O, 1 , 2. E.Derajat O, 1 , 2 .3

FILL IN :

Gradasi pembesaran kelenjar tiroid pada survey GAKI di Indonesia Derajat ..,,,,,...

GRADASI MENURUT WHO . , .., ..

Struma bisa digolongkan ke dalam : 1.. 2.. 3..l

PATOFISIOLOGI TERJADINYA STRUMA: 1 2 3.

LATIHAN BELAJAR GANGGUAN PERTUMBUHAN . Satriono, M.Sc., SpA(K)


PERAWAKAN PENDEK

1.Perawakan pendek atau short stature merupakan suatu terminologi mengenai panjang/tinggi badan yang berada di bawah .. atau pada kurva pertumbuhan yang berlaku pada populasi tersebut. A. persentil ke 3 , 3 Standard Deviation B. persentil ke 3 , 2 Standard Deviation C. persentil ke 3 , 1 Standard Deviation D. persentil ke 5 , 2 Standard Deviation E. persentil ke 5 , 3 S Standard Deviation

2.Perawakan pendek primer / instrinsik: A. Hipotiroidisme B.Sindrom Turner C .cushing sindrom D.Hypogonadism E.Rickets

Ada beberapa klasifikasi perawakan pendek yaitu : a. ....................................... b. ...................................... c. ........................................ d. .....................................

b. Perawakan pendek primer / instrinsik 1.Sindrom-sindrom yang dihubungkan dengan kelainan kromosom Sindrom Turner Sindrom Down 2.Sindrom sindrom lain, misalnya: Sindrom Noonan Sindrom Prader-Labhart-Willi Sindrom Russell Silver Sindrme Seckel Sindrom Hutchinson Gilfort Sindrom Cockayne

c. Perawakan pendek sekunder / extrinsik 1. Penyakit / kelainan sistemik (chronic disease) Misalnya kelainan jantung, paru, liver, intestinal, renal, hematologi, CNS dan generalized inflammatory disease, infeksi kronik, anemia kronik,malabsorbsi 2. Malnutrisi 3. kelainan endokrin Hipotiroid Growth hormon defisiensi IGF-1 defect Pseudohypoparathyroidism The cushing sindrom Mauriac syndrome (karena regulasi glukosa yang jelek pada pasien diabetes mellitus) Hypogonadism Rickets LATIHAN BELAJAR KELAINAN GENITALIA PADA ANAK. Satriono, M.Sc., SpA(K)


1.Micropenis (Age 1 11 yr) if length of the penis : A. < 1 cm B. < 2 cm C.< 2,5 cm D. < 3 cm E < 4 cm

SOAL FILL IN Hormonal treatment for cryptorchidism by using :..................................... or ..................................

SOAL BENAR/SALAH Some believe that preoperative treatment with hCG facilitates surgery. JAWAB: A.BENAR B.SALAH

LATIHAN BELAJAR HIPERPLASIA ADRENAL KONGENITAL. Satriono, M.Sc., SpA(K)


1. Penyebab Congenital Adrenal Hyperplasia terbanyak: A.Deficiency of 21-hydroxylase B.Excess of 21-hydroxylase C. Trisomy 21 D.Trisomy 18 E. Defisiensi GnRH

2. Pada pemeriksaan kromosome ketiga bayi di atas 46, XX. Ketiga bayi tsb adalah: . Dengan A. male pseudohemaphrodites , Untreated congenital adrenal hyperplasia B. female pseudohemaphrodites , Untreated congenital adrenal hyperplasia C. male pseudohemaphrodites , cryptorchisim D. hemaphrodites , Untreated congenital adrenal hyperplasia E. hemaphrodites

FILL IN

When the adrenogenital syndrome is associated with congenital adrenal hyperplasia, it is caused by a family of .. disorders of adrenal steroidogenesis leading to a deficiency of .. . The deficiency of cortisol results in increased secretion of ., which leads in turn to adrenocortical hyperplasia and overproduction of intermediary metabolites. Severe and mild forms of these disorders, caused by variations in the severity of the genetic mutations, have been reported.

Congenital Adrenal Hyperplasia Deficiency of for 95% of affected patients.

endokrinologi anak

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