title: Congenital adrenal hyperplasia with cholestatic jaundice.
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.
authors.affiliation: Department of Paediatrics, Ziauddin Medical University, North Nazimabad, Karachi, Pakistan. nishi.88@hotmail.com
authors.forename: Nisreen Feroz
authors.initials: NF
authors.lastname: Ali
authors.affiliation: Department of Paediatrics, Ziauddin Medical University, North Nazimabad, Karachi, Pakistan.
authors.forename: Farhana
authors.initials: F
authors.lastname: Zafar
authors.affiliation: Department of Paediatrics, Ziauddin Medical University, North Nazimabad, Karachi, Pakistan.
authors.forename: Areeb Sohail
authors.initials: AS
authors.lastname: Bangash
authors.affiliation: Department of Paediatrics, Ziauddin Medical University, North Nazimabad, Karachi, Pakistan.
authors.forename: Abdul
authors.initials: A
authors.lastname: Malik
authors.affiliation: Department of Paediatrics, Ziauddin Medical University, North Nazimabad, Karachi, Pakistan.
authors.forename: Karimunnisa
authors.initials: K
authors.lastname: Mohammedi
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases; D041781:Jaundice, Obstructive / Q000150:complications* / Q000503:physiopathology; D008297:Male