Diagnostic Dilemma

Persistent Vomiting, Abdominal Pain with Persistent Hyponatremia and Underdeveloped Genitalia

An 8 ½ years old child presented with persistent vomiting and pain in abdomen for 3-4 days. The child took treatment outside but had no improvement. Got admitted with us and the symptoms were relieved within 12 hours. Systemic examination was normal. General examination revealed small hypopigmented spots over the face mainly over the bridge of nose. There was a single hypopigmented patch over the back also. Genital examination revealed the very small testis of neonatal size and underdeveloped scrotum. Slight hyperpigmentation was noted over the knuckles and distal interphalangeal joints. Height was 120 cm. and weight was 20 kg. Lab examination done i.e. Renal and liver function tests, CBC, chest X-ray were normal except for eosinophils of 5 percent. Serum sodium was 136 and potassium was 4.0. Urinary sodium was 134, and urine osmolality was not done. Blood sugar was 139. Bicarbonate was 24 and anion gap was normal. Repeat sodium estimations were always on the lower side of normal and there was never evidence of hyperkalemia. CT scan of abdomen was normal. The patient could not be evaluated further because of financial constraints

What is the diagnosis_? What other tests can be suggested to come to a final diagnosis_?
Answer Discussion :
magdy girgis
suprarenal disorder
13 years ago
azeem khanc
3 beta hydroxy steroid dehydrogenase defficiency.
13 years ago

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