الفهرس 
EMBRYOLOGYOnly 14 pages are availabe for public view
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Abstract
A retrospective study was carried out on 48 patients with CH attending the Endocrinology clinic, Children’s Hospital-Ain Shams University Hospital. A full medical history including date of birth, sex, age at diagnosis, presenting complaint and family history was taken.
This retrospective study showed that the 50 % of children with congenital hypothyroidism had hypoplastic thyroid gland, 29.1 % had aplasia of the gland, 19.08 % had goiter (dyshormonogenesis), 4.1 % had ectopic gland and 2.02 % had thyroid hemiagenesis i.e. 85.5 % had dysgenesis and 14.5 % had dyshormonogenesis.
The age at presentation was less than 5 years, in 7 cases 14.9 %, 5 – 10 years in 11 cases 23.4 %, 10 – 15 years in 7 cases 14.9 %, 15 – 20 years in 21 cases 44.7 % above 20 years 1 case 2.1 %. According to sex distribution, 20 were males 42.6 % and 28 were females 57.4 %, male to female ration 1 : 1.3.
Clinical examination showed associated dysmorphic features ; 11.7 % upward slanting of palpebral fissures, 17.6 % epicanthic folds, 8 % thin upper lip, 13.2 % depressed nasal bridge, 77.9 % high arched palate, 8 % phone ears, 10.2 % hypertelorsim, 1.4 % dolicocephly and 1.4 % webbing of neck (normal karyotype)
Prevalence of congenital anomalies associated with CH detected was 12.7 %, cardiovascular anomalies were 10.6 % including ventricular septal defect, mitral valve prolapse, pulmonary stenosis, tricusped regurge and patent ductus arteriosus. Associated congenital anomalies detected by ultrasound examination were 8.5 % including absent kidney, pelvic kidney, imperforate hymen.