Ambiguous Genitalia- Two Children From Same Family | [Pakistan Paediatric Journal • 2014]

Author(s):

1. TAYYABA NOOR: Department of Pediatrics, Lahore Medical & Dental College - Ghurki Trust Teaching Hospital, Lahore, Pakistan

2. MUHAMMAD YAQOOB: Department of Pediatrics, Lahore Medical & Dental College - Ghurki Trust Teaching Hospital, Lahore, Pakistan

3. RIZWAN WASEEM: Department of Pediatrics, Lahore Medical & Dental College - Ghurki Trust Teaching Hospital, Lahore, Pakistan

4. Azhar Abbas Shah: Department of Pediatrics, Lahore Medical & Dental College - Ghurki Trust Teaching Hospital, Lahore, Pakistan

5. Atika Zubair: Department of Pediatrics, Lahore Medical & Dental College - Ghurki Trust Teaching Hospital, Lahore, Pakistan

Abstract:

Congenital adrenal hyperplasia (CAH) is autosomal recessive disease resulting in decreased cortisol production. Severity of symptoms is due to low cortisol and high androgenic activity. Commonest mutation results in 21-hydroxylase (21-OH) deficiency. This case report includes the summary of disease in two siblings, who unfortunately suffered from same problem but with different severity. One child suffered from severe form of illness (classic salt loser) while other had milder disease. Both were given treatment but family showed poor compliance and follow up. They haven't planned yet for reconstructive procedure of external genitalia.

Page(s): 53-56

DOI: DOI not available

Published: Journal: Pakistan Paediatric Journal, Volume: 38, Issue: 1, Year: 2014

Keywords:

Ambiguous genitalia , Congenital adrenal hyperplasia , cortisol production

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