Congenital adrenal hyperplasia with cholestatic jaundice: a case report
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Congenital adrenal hyperplasia with cholestatic jaundice: a case report DoThi Thanh Mai*, Vu Chi Dung, Bui Phuong Thao, Nguyen Ngoc Khanh, Can Thi Bich Ngoc, Nguyen Phu Dat From 8th APPES Biennial Scientific Meeting Darwin, Australia. 29 October – 1 November 2014 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.
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Published: 28 April 2015
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doi:10.1186/1687-9856-2015-S1-P55 Cite this article as: Mai et al.: Congenital adrenal hyperplasia with cholestatic jaundice: a case report. International Journal of Pediatric Endocrinology 2015 2015(Suppl 1):P55.
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National Hospital of Pediatrics, Hanoi, Vietnam © 2015 Mai et al; licensee 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.
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