Diagnostic Dilemma

Ambiguous genitalia

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?
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 :
Tests for 17OHPC, karyotyping, US and and gonades
6 years ago
doctor imran
U/S abd for gonades,,blood tests for 17OHP,,renin levels and electrolytes,,karyotyping,,input from endocrinologis n urologist..
6 years ago

View More Comments

Disclaimer: The information given by www.pediatriconcall.com is provided by medical and paramedical & Health providers voluntarily for display & is meant only for informational purpose. The site does not guarantee the accuracy or authenticity of the information. Use of any information is solely at the user's own risk. The appearance of advertisement or product information in the various section in the website does not constitute an endorsement or approval by Pediatric Oncall of the quality or value of the said product or of claims made by its manufacturer.
0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0