Ambiguous genitalia

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Ambiguous genitalia

Author: Pediatric Oncall

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.

How to approach this case?

Answer Discussion :

C

CLAUDIO CORREA

0

Tests for 17OHPC, karyotyping, US and and gonades

7 years ago

D

doctor imran

0

U/S abd for gonades,,blood tests for 17OHP,,renin levels and electrolytes,,karyotyping,,input from endocrinologis n urologist..

7 years ago

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Answer 1

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.

Ambiguous genitalia

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