Ambiguous genitalia

 
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Question
A 2 months old child born of non-consanguineous marriage presents with abnormal genitalia. On examination, the phallus was 2.75 cm with single opening, partially fused labia with gonads not palpable and hyperpigmentation of gonads.
Expert Opinion :
Serum electrolytes and blood gases were normal. 17 hydroxy progesterone was elevated and mullerian structures were present on ultrasound. Diagnosis was congenital adrenal hyperplasia. Blood pressure was normal. She was treated with hydrocortisone and fludrocortisone.
Answer Discussion :
C
CLAUDIO CORREA
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Tests for 17OHPC, karyotyping, US and and gonades
D
doctor imran
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U/S abd for gonades,,blood tests for 17OHP,,renin levels and electrolytes,,karyotyping,,input from endocrinologis n urologist..

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