Endokrinologi Anak
PENGANTAR
PEDIATRIC ENDOCRINOLOGY
RUANG LINGKUP ENDOKRINOLOGI ANAK
Satriono, M.Sc., Dr., SpA(K)
Terakhir diperbaharui pada / Page updated :Thursday, November 18, 2004
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 Down’s 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 Down’s 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
GANGGUAN PERTUMBUHAN , PENGGUNAAN GROWTH CHART.
Satriono, M.Sc., Dr., SpA(K)
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 ½
Perempuan = {TB Ibu + (TB ayah – 13 )} x ½
-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 SD
Laki-laki
perempuan
3-6 bulan
0-1
0-1
1-1,5 tahun
3-4
2-3
2 tahun
7-11
6-10
> 2 tahun
13-14
12-13
(Dikutip dari : Hung Wellington. Growth and development: normal
and variant .In :Moore WT, Eastman. Diagnosis
Endocrinology, 2nded,Mosby,1996,52-63
3.Tabel :Important historical features in the evaluation of short stature
Historical features
Diagnostic implications
Maternal History
Length of gestation, previous abortions,
complications of pregnancy, smooking,
alcohol and drug use
Fetal alcohol syndrome, Fetal hydantoin
syndrome, TORCH infection
Anthropometric values
Birth length and weight, dysmorpholism
IUGR, Turner syndrome, other short stature
syndrome
Neonatal and developmental history
Neonatal hypoglycemia, prolong neonatal
jaundice, developmental milestones
Hypopituitarism, Hypothyroidism
Nutritional history
Inadequate caloric intake
Failure to thrive
Psychosocial history
Child abuse or neglect
Psychosocialshort stature
Family history
Genetic syndrome
Skeletal dysplasia, inborn errors of metabolism
Family heights, age of onset of puberty,
age of menarche
Familialshort stature, constitutional delayed
growth, sexual maturation
Review of systems
Spesific chronic organic disorders
Cardiac, pulmonary, hepatic, renal disorders
Medical history
Glucocorticoid, stimulant
Drug-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 klinis
Kelainan klinis
Bone age
Analisis chromosom
FSH
Sindoma 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
Anemia
Tuberkulosis
Gagal 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 dysplasia
Adanya defek struktural yang dihubungkan
dengan defisiensi hormon pertumbuhan
atau defisiensi hormon hipofisis multiple
pada bayi
CT scan atau MRI
Etiologi defisiensi hormon pertumbuhan
Daftar Pustaka
1. Rosen feld RG, Cohen Pinchas. Disorders of growth hormone. In :Sperling. Pediatric Endocrinology. 2nd.ed.
Saunders.Philadelphia.2002.211-288
2. Cowell CT. Growth Disorders in Holly JM .Clinical Endocrinology and Metabolism. Best Practice & Research .London.. Vol
16 No.3. september 2002
3. Wales JKH, Rogol AD. Wit Jan M. Pediatric Endocrinology and growth. Mosby.Barcelona. 1996
4. Hung Wellington. Growth and development: normal and variant .In Moore WT, Eastman. Diagnosis Endocrinology, 2nd
ed,Mosby,1996,52-63
GRTOWTH CHART
Bahan Bacaan Kuliah Dr.Satriono,M.Sc.,SpA(K)
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
DAFTAR PUSTAKA :
Endokrinologi Anak
HIPOTIROIDISME
Satriono, M.Sc., Dr.,SpA(K)
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 lahirHipotiroidisme 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
Down’s 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
DOWN’S SYNDROME (MONGOLISME)
Satriono,M.Sc.,Dr.,SpA(K)
BIKA FK UNHAS, Makassar
DOWN’S SYNDROME (DS)
1866 J.L.H. Down : Down’s Syndrome
Insidens : 1-2 /1000 kelahiran
ETIOLOGI :
1959 Le Jeune dkk TRISOMI 21
TRISOMI 21
Trisomi Reguler 95 %
Translokasi 4-5 %
Mosaik ½ - 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
Brusfield’s 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
Satriono, M.Sc., Dr., SpA(K)
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*
Classification
Criteria
1. Insulin–dependent (IDDM, type I)
Typical manifestations: glucosuria, ketonuria, random
plasma glucose (PG) >200 mg/dL
2. Non–insulin-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.
EPIDEMIOLOGY
Figure XXVI–1. 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 5–7 yr of age and at the time of puberty
ETIOLOGY AND PATHOGENESIS
Figure XXVI–2. 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 Metabolic
Processes in Liver, Muscle, and Adipose Tissue*
HighPlasma Insulin
(Postprandial
State)
Low Plasma Insulin
(Fasted State)
Liver:
Glucose Uptake
Glucose production
GlycogenSynthesis
Glycogenolysis
Absence of Gluconeogenesis
Gluconeogenesis
Lipogenesis
Absence of lipogenesis
Absenceofketogenesis
Ketogenesis
Muscle:
Glucose Uptake
Absence of glucoseuptake
GlucoseOxidation
Fatty acid and ketone oxidation
GlycogenSynthesis
Glycogenolysis
ProteinSynthesis
Proteolysis and amino Acid release
Adipose tissue:
Glucose Uptake
Absence of glucose uptake
Lipid Synthesis
Lipolysis and fatty acid release
Triglyceride Uptake
Absence of triglyceride uptake
*Insulin is considered to be the major factor governing these metabolic processes. Diabetes mellitusmay be
viewed as a permanent low–insulin 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 10–25 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.
Satriono, M.Sc., Dr., SpA(K)
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
KELAINAN GENITALIA PADA ANAK
Satriono, M.Sc., Dr., SpA(K)
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,àdwarfism
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.
Endokrinologi Anak
KELAINAN GENITALIA PADA ANAK
Satriono, M.Sc., Dr., SpA(K)
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.
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.
Satriono, M.Sc., Dr., SpA(K)
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 529–2. 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 529–3. 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.
PENYAKIT METABOLIK pada ANAK
OBESITAS
HIPERLIPIDEMIA
OBESITY
Background Obesity is the most prevalent nutritional disorder among children and adolescents in the United States. In Indonesia ?
Childhood obesity predisposes to
insulin resistance and type 2 diabetes
hypertension,
hyperlipidemia,
liver and renal disease,
and reproductive dysfunction.
risk of adult obesity and
cardiovascular disease.
Operational definitions of obesity in adults are derived from statistical data analyzing the
overweight, 20%
obese, 50%
morbidly obese 80-100%,
weights exceed those expected for heights
Consensus committees have recommended that children and adolescents be considered overweight or obese if the BMI exceeds the 85th or 95th percentiles
or exceeds 30 kg/m2 at any age.
Pathophysiology
During childhood and adolescence, excess fat accumulates
when total energy intake exceeds total energy expenditure.
Reductions in energy expenditure
Increases in energy intake
During childhood and adolescence, excess fat accumulates when total energy intake exceeds total energy expenditure.
Reductions in energy expenditure characterize other hormonal deficiency states, including hypothyroidism and growth hormone deficiency.
Increases in energy intake are observed in genetic syndromes, such as Prader-Willi syndrome, Cushing syndrome, and drug-induced obesity.
Acute complications of childhood obesity include
type 2 diabetes,
hypertension,
hyperlipidemia,
accelerated growth and bone maturation,
ovarian hyperandrogenism and gynecomastia,
cholecystitis, pancreatitis, and pseudotumor cerebri.
Fatty liver is common.
A number of orthopedic disorders,
Emotional and psychosocial sequelae are widespread.
Obesity during childhood and adolescence is associated with a number of cardiovascular risk factors, including hyperinsulinism and insulin resistance, hypercholesterolemia, hypertriglyceridemia, reduced levels of HDL, and hypertension.
A hallmark of insulin resistance is acanthosis nigricans, the presence of which indicates an increased risk of type 2 diabetes.
Long-term complications
Obesity during childhood and adolescence is associated with an increased risk of obesity during adulthood, with its attendant long-term health risks.
The dramatic increase in the prevalence of type 2 diabetes among adolescents with obesity is likely to be accompanied by a host of diabetic-related complications in adulthood and a reduction in life span.
The epidemiological data, although limited, indicate that adolescent obesity is associated with increased morbidity and mortality in later life.
Psychosocial dysfunction in individuals who have obesity in childhood and adolescence is a serious concern.
completed less schooling, less likely to have married,
household poverty
Causes
Genetic syndromes .
Hormonal disorders .
Genetic syndromes associated with childhood obesity include the following:
Prader-Willi syndrome
Pseudohypoparathyroidism
Laurence-Moon-Biedl (Bardet-Biedl) syndrome
Cohen syndrome
Down syndrome
Turner syndrome
Hormonal disorders associated with childhood obesity include the following:
Growth hormone deficiency
Growth hormone resistance
Hypothyroidism
Leptin deficiency or resistance to leptin action
Glucocorticoid excess (Cushing syndrome)
Precocious puberty
PCOS
Prolactin-secreting tumors
Lab Studies
Fasting and 2-hour postglucola glucose and insulin levels and hemoglobin A1c (for evaluation of insulin resistance and glucose tolerance)
Fasting lipid panel for detection of dyslipidemia
Thyroid function tests
Serum leptin
Adrenal function tests
Karyotype
Growth hormone (GH) secretion and function tests, when indicated
Serum calcium, phosphorus, and parathyroid hormone levels to evaluate for suspected pseudohypoparathyroidism
Imaging Studies
MRI of the brain with focus on the hypothalamus and pituitary, when clinically indicated
Sleep studies
to detect sleep apnea
TREATMENT
Medical Care
Exercise and physical activity
Nutritional counseling and reduced fat diet
Treatment of the psychiatric conditions
Very controlled–energy diets
Surgical Care
Medical/Legal Pitfalls
Failure to identify a genetic or hormonal disorder in a child with obesity
Overaggressive or inappropriate use of anorectic medications
SECONDARY HYPERLIPIDEMIA
Much of the hypertriglyceridemia and, to a smaller extent, hypercholesterolemia seen in clinical practice is secondary to exogenous factors or underlying clinical disorders.
Obesity, for example, is probably the major cause of mild elevations of plasma triglycerides, and the hypertriglyceridemia is frequently normalized following a return to desirable weight.
Weight loss may also reduce cholesterol levels in the overweight
Pediatric conditions associated with hyperlipidemia include:
hypothyroidism,
nephrotic syndrome,
renal failure,
storage diseases (e.g., glycogen storage disease, Tay-Sachs disease, Niemann-Pick disease),
diabetes mellitus,
and occasionally other endocrine and metabolic disorders, such as congenital biliary atresia,
other causes of cholestasis, hepatitis, anorexia nervosa, and systemic lupus erythematosus.
Excessive alcohol intake is a well-known cause of hypertriglyceridemia in adults and should be considered in teenagers.
Oral contraceptives generally increase triglyceride levels, with varying effects on LDL and HDL cholesterol levels.
Other drugs that raise triglyceride levels are 13-cis-retinoic acid (isotretinoin or Accutane),
thiazide diuretics, and some b{beta}-adrenergic blocking agents.
Treatment
Treatment of the underlying condition or removal of the offending drug is usually the first approach to management of the patient with secondary hyperlipidemia.
If the elevated lipid level persists, however, consideration must be given to the possibility that the patient has an underlying primary form of hyperlipoproteinemia, and therapy appropriate to that condition should be initiated.
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
