Volume 2015 Supplement 1

Abstracts from the 8th APPES Biennial Scientific Meeting

Open Access

Congenital adrenal hyperplasia with cholestatic jaundice: a case report

  • DoThi Thanh Mai1,
  • Vu Chi Dung1,
  • Bui Phuong Thao1,
  • Nguyen Ngoc Khanh1,
  • Can Thi Bich Ngoc1 and
  • Nguyen Phu Dat1
International Journal of Pediatric Endocrinology20152015(Suppl 1):P55

DOI: 10.1186/1687-9856-2015-S1-P55

Published: 28 April 2015

Congenital adrenal hyperplasia (CAH) describes a group of autosomal recessive disorders, each of which involves a deficiency of an enzyme involved in the synthesis of cortisol, aldosterone, or both. Classic CAH is rare, about 1 case per 16,000 population. However CAH with cholestatic jaundice is extremely rare.

A 23 days old boy presented with vomiting, persistent jaundice. He was born at term, and his birth weight was 3 kg. In family history, no liver or endocrine disease was reported.

On examination, his weight was 3 kg; his height was 51 cm; jaundice, hyperpigmentation, dehydration, no hepatomegaly. Strength of his pennis was 3 cm; 2 testis were in the scrostum with volume of 1 ml.

Investigation showed : electrolyte imbalance Na+ 110 mmol/l, K+ 7.3 mmol/l, Cl- 80mmol/l, 17 OHP 111 ng/ml, Testosteron 36.36 nmol/l, cholestatic jaundice : total bilirubin 114.6 mcmol/l, direct bilirubin 75.5 mcmol/l,GOT 40 UI/l, GPT 25UI/l, GGT 142.76 UI/l. The markers for viral hepatitis were negative. Abdominal ultrasound was normal.

He was diagnosed of CAH and treated with hydrocortisone and fludrocortisone. After 1 month of treatment, jaundice disappears and electrolyte is normalized

Written informed consent was obtained from the patient for publication of this Case report (and any accompanying images). A copy of the written consent is available for review by the Editor-in-Chief of this journal.

Authors’ Affiliations

(1)
National Hospital of Pediatrics

Copyright

© Mai et al; licensee BioMed Central Ltd. 2015

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

Advertisement