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J Pak Med Assoc. 2014 Jan;64(1):110-4.

Congenital adrenal hyperplasia with cholestatic jaundice.

Author information

1
Department of Paediatrics, Ziauddin Medical University, North Nazimabad, Karachi, Pakistan. nishi.88@hotmail.com
2
Department of Paediatrics, Ziauddin Medical University, North Nazimabad, Karachi, Pakistan.

Abstract

Congenital Adrenal Hyperplasia describes a group of autosomal recessive disorders characterized by a decrease in Cortisol production. 11 beta hydroxylase deficiencies is the second most common form. However, its presentation with cholestatic jaundice is extremely rare. We present a case of a 29-day-old infant who came to us with unusual dark complexion, persistent jaundice, and electrolyte imbalance. On investigation he was diagnosed as a case of congenital adrenal hyperplasia. Treatment with hydrocortisone and fludrocortisone cleared his jaundice and complexion with subsequent improvement in electrolytes. The aim of this report is to illustrate an unusual presentation of CAH with Cholestatic jaundice. This is the first case to be reported from Pakistan. The case outlines the difficult workup that was encountered in the diagnosis and management of the patient.

PMID:
24605732
[Indexed for MEDLINE]
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