Endokrinologi Anak

Ruang Lingkup Penyakit Pubertas Prekoks

1.Patologi Pertumbuhan Status Intersexual (Pseudo
2.Hipofise Hermafroditisme)
Hipopituitarisme Hermafroditisme
Defisiensi Growth Hormone Disgenesis Gonad
TSH Kelainan Kromosom sex Sindroma Turner
ACTH Kriptorkidisme (Undescended Testis)
FSH , LH Mikropenis
ADH
2.Hipofise 6.Pankreas
Hiperpituitarisme Diabetes Mellitus
Gangguan Hipotalamus Hipofise Hipoglisemia spontan

3.Tiroid 7.Patologi Paratiroid

Hipotiroidisme Metabolisme Calcium Vit D
Hipertiroidisme
GONDOK pada Anak 8. Obesitas
Tiroiditis
Karsinoma tiroid Bedah Yang akan dibahas untuk S1 Ked
1.Hipotiroidisme
4.Suprarenalis 2.DD nya Downs Syndrome
Hipofungsi 3.Diabetes Mellitus pada Anak
Penyakit Addison 4.Struma pada Anak.
Insufisiensi Suprarenalis Akut 5.Gangguan pertumbuhan , Penggunaan
Hiperfungsi: Growth Chart.
Hiperplasia suprarenalis kongenital 6.Kelainan Genitalia pada anak.
Sindroma Cushing 7.Hiperplasia adrenal kongenital.
8.Obesitas anak
5.Gonad
Pubertas terlambat & Hipogonadisme

GANGGUAN PERTUMBUHAN , PENGGUNAAN GROWTH CHART.

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
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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 Sindrom Hutchinson Gilfort

dengan kelainan kromosom Sindrom Cockayne
Sindrom Turner
Sindrom Down 3.IUGR, yang disebabkan
2.Sindrom sindrom lain, misalnya: genetik atau kelainan metabolik
Sindrom Noonan Adanya kelainan saat dalam kandungan
Sindrom Prader-Labhart-Willi oleh infeksi, obat-obatan, alkohol,dll
Sindrom Russell Silver Disfungsi plasenta berat
Sindrme Seckel

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

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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)

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

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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,
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
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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)
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II.Tumbuh Kembang

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

HIPOTIROIDISME

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

KLASIFIKASI hipotiroidisme kongenital di daerah

endemik GAKI
I. HIPOTIROIDISME KONGENITAL
HIPOTIRODISME DIDAPAT II. - H ENDEMIK GAKI
(ACQUIRED) - H SPORADIK
Istilah KRETINISME? --- dipakai untuk
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

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 HIPOTIROIDISME BAYI
Insidens 1:4000 (3750 10000) HIPOTIROIDISME ANAK
Perempuan : Laki-laki = 3: 1 Simtom
Gejala baru muncul 1-3 bulan sesudah 1.Pertumbuhan terlambat
lahir - Mental - Fisik - Dentisi
2.Gemuk : Muka sembab
Simtom 3.Struma
1.Obstipasi 4.Bodoh
2.Malas menetek (Minum susu) 5.Cold Intolerance
3.Letargi - mau tidur saja 6.Menometrorhagi
4.Ikterus neonatorum Prolongatus (pada anak perempuan
5.Hipotermi pubertas)

Signs (Gejala Klinik) Signs (Gejala Klinik)

1.UUB Lebar *) 1.Bradikardi
2.Rambut kering 2.Pendek
3.Hipertelorisme Ratio Upper:Lower Segment
4.Makroglosi >Normal
5.Muka Sembab (a Puffy Face) 3.Overweight
*) Fontanela post terbuka waktu 4.Miksedema
lahirHipotiroidisme Bayi 5.Goiter bisa ada / tidak
6.Leher Pendek 6.Kulit: Pucat, Tebal, Karotinemik,
7.Kulit: tebal, kering, Kuning, Pucat, Dingin, Miksedema
miksedema 7.Hipotoni Otot Lembek
8.Suara serak 8.APR , KPR Lambat
9.Hipotoni (Waktu refleks memanjang)
10. Distenden Abdomen
11.Hernia umbilikaslis Pemeriksaan
12.Gondok bisa ada / tidak DARAH:
13. Jantung : Kardiomegali Bising + - Hb menurun
- Alkali fosfatase menurun
- Hiperkolesterolemia

X Ray
- disgenesis epifisis (Wilkin)
GAMBAR HIPOTIROIDISME KONGENITAL - Bone Age terlambat

1.UUB Lebar Pemeriksaan

2.Rambut kering Bone Age terlambat
3.Hipertelorisme
4.Makroglosi Pemeriksaan Hormonal
5.Muka Sembab (a Puffy Face) Free T4 menurun
TSH sensitif meningkat

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 Jaman Dulu : T4 total menurun , TSH Diagnosis Banding
meningkat Downs Syndrome
Anak Pendek:
Jaman dulu sekali : 1.Kondrodistrofi (Akondroplasia)
PBI (protein Bound Iodine) 2.Dwarfism Hipopituitarisme
Defisiensi Growth Hormone
Pemeriksaan Lain 3.Turner Syndrome pada anak
Scanning (Sidik Tiroid) perempuan
EEG Low Voltage
EKG Low Voltage Prognosis
EMG (Electromyogram) memanjang Bila terapi terlambat / tanpa terapi
BMR menurun 1.Kematian o.k.:
Tak dilakukan pada Anak - Obstruksi saluran nafas
- Infeksi
Pemeriksaan Lain 2.Growth Retardation
Uji TRH 3.Maturasi otot terlambat
Untuk bedakan H Primer dan H 4.Mental Retardation
Sekunder 5.Sequele Nerologik :
- inkoordinasi
- ataksi
Diagnostik H - spastik
Signs dan Symptoms H - strabismus , dll
Laboratorium: dulu
Hiperkolesterolemia
Hb rendah Prognosis
Bone Age terlambat Cepatnya Diagnosis
Hormonal : < 3 bulan rata-rata IQ 89
TSH sensitif meningkat 3 6 bulan rata-rata IQ 70
Free T4 menurun > 7 bulan rata-rata IQ 54
DULU Diagnosis ex juvantibus Etiologi IQ>85
Atierotik 41%
Dishormogenesis 44%
PENGOBATAN H Ektopik 78%
Dulu : obat dessicated thyroid extract
Contoh Thyranon 1 tablet 100 mg
Dosis optimal 100 mg / m2 MAKIN DINI TERAPI
Potensi intelek makin tinggi
Sekarang : Sodium Levo Thyroxin Kelaianan nerologik makin kurang
0,1 mg L Thyroxin = 60 100 Extract
Thyroid PERLU UJI SARING (SCREENING TEST)
Contoh: Thyrax (Organon) PADA NEONATUS
Euthyrox (Merck) dipakai TSH
Dosis 5-8 ug/kg BB

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 DOWNS SYNDROME (MONGOLISME)

DOWNS SYNDROME (DS) Gejala Klinik DS

Insidens : 1-2 /1000 kelahiran HIDUNG
Pesek
ETIOLOGI : LIDAH
1959 Le Jeune dkk TRISOMI 21 Makroglosi
Lingua Skrotalis
TRISOMI 21
Trisomi Reguler 95 % RAHANG Hipopalsia
Translokasi 4-5 % PALATUM Letak tinggi
Mosaik -1% GIGI Abnormal
TELINGA Abnormal
Patogenesis division LEHER pendek
struktur
Contoh Karyotype pasen THORAKS:
Kelainan Bentuk
JANTUNG KJB - VSD
Gejala Klinik DS ABDOMEN
Retardasi Mental Hernia Umbilikalis
IQ 0-20 IDIOT Kelainan GI : Megakolon
IQ 21 50 IMBECIL OTOT Hipotoni
Retardasi Motorik : PELVIS Kecil
(Umur 3 tahun pertama)
Muka : FACIES MONGOLOID Dermatoglifik

Gejala Klinik DS
Kepala
Brakisefal Dermatoglifik DS
UUB Lebar, Terlambat menutup TANGAN: Simian line, Sydney line
Belakang Kepala datar Garis fleksi distal jari V
menghilang
Gejala Klinik DS UJUNG JARI: Lengkung Ulna
MATA TELAPAK TANGAN:
Alis tipis Sudut atd > 45 (posisi t, t, t)
Celah mata miring TELAPAK KAKI:
Epicanthus Halux : Busur tibia
Katarak Lengkung distal kecil
Nistagmus
Strabismus
Hipertelorisme
Brusfields Spot
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X Ray Panggul DS Iliac index = ika + iki + aka + aki
Sudut ilium (i) < 60 2
Sudut asetabulum (a) < 16 Normal > 80

X Ray Panggul DS

Diagnostik DS - familial
A.GEJALA KLINIK Perlu pemeriksaan kromosom anggota
B.GEJALA YG DPAT DIKUANTIFIKASI: keluarga
Anthropometrik : BB, TB, LK IBU Balanced translocation
Upper:lower body segment>N Perlu diagnostik antenatal
UKURAN PANGGUL
DERMATOGLIFIK Prognosis DS
C.PEMERIKSAAN KROMOSOM LEBIH BAIK daripada jaman dulu
Diagnostik DS KEMATIAN ok :
DERMATOGLIFIK Peneumonia
SCORE CARD : CHD
Walker Kelainan kongenital
Beckman (Uppsalla) Lekemia
Infeksi
Reed (Univ.Indiana):
1.Pola halux kanan Terapi DS
2.Sudut atd kanan Tak ada oleh karena kongenital
3.Pola telunjuk kanan Terapi simptomatik
4.Pola telunjuk kiri infeksi
Koreksi kelainan
Pencegahan DS STIMULASI DINI
GENETIC COUNSELLING
Tipe translokasi ok mutasi

DIABETES MELLITUS PADA ANAK

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*

Classification
Criteria
1. Insulindependent (IDDM, type I)
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 Typical manifestations: glucosuria, ketonuria, random
plasma glucose (PG) >200 mg/dL
2. Noninsulin-dependent
(NIDDM, type II)
FPG >140 mg/dL and 2-hr value >200 mg/dL OGTT
on more than one occasion and in absence of
precipitating factors
3. Other types
Type I or II criteria in association with certain genetic
syndromes (including cystic fibrosis), other
disorders, and drugs (see text)
Impaired glucose tolerance (IGT)
FPG <140 mg/dL with 2-hr value >140 mg/dL during
OGTT
Gestational diabetes (GDM)
Two or more of following abnormalities during OGTT:
FPG >105 mg/dL; 1 hr, >190 mg/dL; 2-hr, >165
mg/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 glucose
tolerance
Genetic propensity (e.g., identical nondiabetic twin
of a diabetic sibling); islet cell antibodies
*Proposed by National Diabetes Data Group (Diabetes 28:1039, 1979) and endorsed
by various diabetes associations worldwide.
PG =plasma glucose; FPG = fasting plasma glucose; = oral glucose tolerance test.

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

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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.

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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.

STRUMA PADA ANAK.

Struma (goiter,gondok) merupakan setiap pembesaran kelenjar tiroid. Anak dengan

pembesaran kelenjar tiroid bisamemperlihatkan fungsi tiroid yang normal (eutiroidisme), fungsi
tiroid yang kurang (hipotiroidisme), atau kelebihan produksi hormon
tiroid (hipertiroidisme).
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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).

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)

KELAINAN GENITALIA PADA ANAK

GENITAL DISORDERS IN CHILDREN

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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.

GENITAL DISORDERS IN CHILDREN

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.

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 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.

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.

HIPERPLASIA ADRENAL KONGENITAL.

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,
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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.

FAMILIAL HYPERLIPDEMIA (FH)

The diagnosis of FH is supported by a strong family history of early myocardial infarctions,
tendon xanthomas, and total plasma cholesterol levels >300 mg/dL in affected adults. Affected
children usually have total cholesterol levels >250 mg/dL, with LDL cholesterol >200 mg/dL.
Arcus cornea
Treatment by weight control has relatively little impact on the plasma cholesterol level in
heterozygous FH.
The Step I diet followed by the Step II diet, if needed, is recommended for FH patients and may
produce a significant reduction (by as much as 15%) in LDL cholesterol but will rarely return the
LDL cholesterol level to normal.

Drug : cholestyramine

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