Lipoid Congenital Adrenal Hyperplasia with Cholestatic Jaundice

BACKGROUND AND OBJECTIVE: Lipoid congenital adrenal hyperplasia (LCAH) is the most severe form of adrenal hyperplasia and mutations in the StAR gene are the most common cause of the disease. Adrenal insufficiency and cholestasis are reported in few patients. The aim of this study was to report the r...

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Autores principales:	A Homaei, A Heidari, F Saffari
Formato:	article
Lenguaje:	EN FA
Publicado:	Babol University of Medical Sciences 2021
Materias:	lipoid cah adrenal insufficiency neonatal cholestasis karyotype. Medicine R Medicine (General) R5-920
Acceso en línea:	https://doaj.org/article/ce8e92a798b04d9b89a6450623cf94b6
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spelling	oai:doaj.org-article:ce8e92a798b04d9b89a6450623cf94b62021-11-29T07:40:49ZLipoid Congenital Adrenal Hyperplasia with Cholestatic Jaundice1561-41072251-7170https://doaj.org/article/ce8e92a798b04d9b89a6450623cf94b62021-03-01T00:00:00Zhttp://jbums.org/article-1-9516-en.htmlhttps://doaj.org/toc/1561-4107https://doaj.org/toc/2251-7170BACKGROUND AND OBJECTIVE: Lipoid congenital adrenal hyperplasia (LCAH) is the most severe form of adrenal hyperplasia and mutations in the StAR gene are the most common cause of the disease. Adrenal insufficiency and cholestasis are reported in few patients. The aim of this study was to report the results of treatment of two sisters with lipoid CAH and cholestatic jaundice. CASE REPORTS: Here, we present two sisters at the age of 30 and 60 days with conjugated hyperbilirubinemia and elevated liver enzymes and adrenal insufficiency. They had a 46,XY karyotype with external female genitalia without uterus and ovaries. LCAH was detected through electrolyte abnormalities, increased ACTH, decreased levels of cortisol and sex hormones and was confirmed by determination of exome sequencing and Sanger sequencing. In these patients, a homozygous mutation (c.653C>T) in exon 6 of STAR gene was identified. The patients were treated with 10 mg of hydrocortisone IV every 8 hours for 3 days; oral hydrocortisone was then administered at a dose of 2.5 mg every 8 hours and 0.2 mg fludrocortisone daily. One month after the therapy, levels of bilirubin and liver enzymes of these patients became normal. The first patient died 7 months after her mother stopped giving the drugs to the child. The other patient is now 9 years old. She is in good clinical condition as her treatment goes on. CONCLUSION: Considering the reported cases, adrenal lipoid hyperplasia should be considered as a rare cause of cholestasis with adrenal insufficiency in patients.A HomaeiA HeidariF SaffariBabol University of Medical Sciencesarticlelipoid cahadrenal insufficiencyneonatal cholestasiskaryotype.MedicineRMedicine (General)R5-920ENFAMajallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Bābul, Vol 23, Iss 1, Pp 119-125 (2021)
institution	DOAJ
collection	DOAJ
language	EN FA
topic	lipoid cah adrenal insufficiency neonatal cholestasis karyotype. Medicine R Medicine (General) R5-920
spellingShingle	lipoid cah adrenal insufficiency neonatal cholestasis karyotype. Medicine R Medicine (General) R5-920 A Homaei A Heidari F Saffari Lipoid Congenital Adrenal Hyperplasia with Cholestatic Jaundice
description	BACKGROUND AND OBJECTIVE: Lipoid congenital adrenal hyperplasia (LCAH) is the most severe form of adrenal hyperplasia and mutations in the StAR gene are the most common cause of the disease. Adrenal insufficiency and cholestasis are reported in few patients. The aim of this study was to report the results of treatment of two sisters with lipoid CAH and cholestatic jaundice. CASE REPORTS: Here, we present two sisters at the age of 30 and 60 days with conjugated hyperbilirubinemia and elevated liver enzymes and adrenal insufficiency. They had a 46,XY karyotype with external female genitalia without uterus and ovaries. LCAH was detected through electrolyte abnormalities, increased ACTH, decreased levels of cortisol and sex hormones and was confirmed by determination of exome sequencing and Sanger sequencing. In these patients, a homozygous mutation (c.653C>T) in exon 6 of STAR gene was identified. The patients were treated with 10 mg of hydrocortisone IV every 8 hours for 3 days; oral hydrocortisone was then administered at a dose of 2.5 mg every 8 hours and 0.2 mg fludrocortisone daily. One month after the therapy, levels of bilirubin and liver enzymes of these patients became normal. The first patient died 7 months after her mother stopped giving the drugs to the child. The other patient is now 9 years old. She is in good clinical condition as her treatment goes on. CONCLUSION: Considering the reported cases, adrenal lipoid hyperplasia should be considered as a rare cause of cholestasis with adrenal insufficiency in patients.
format	article
author	A Homaei A Heidari F Saffari
author_facet	A Homaei A Heidari F Saffari
author_sort	A Homaei
title	Lipoid Congenital Adrenal Hyperplasia with Cholestatic Jaundice
title_short	Lipoid Congenital Adrenal Hyperplasia with Cholestatic Jaundice
title_full	Lipoid Congenital Adrenal Hyperplasia with Cholestatic Jaundice
title_fullStr	Lipoid Congenital Adrenal Hyperplasia with Cholestatic Jaundice
title_full_unstemmed	Lipoid Congenital Adrenal Hyperplasia with Cholestatic Jaundice
title_sort	lipoid congenital adrenal hyperplasia with cholestatic jaundice
publisher	Babol University of Medical Sciences
publishDate	2021
url	https://doaj.org/article/ce8e92a798b04d9b89a6450623cf94b6
work_keys_str_mv	AT ahomaei lipoidcongenitaladrenalhyperplasiawithcholestaticjaundice AT aheidari lipoidcongenitaladrenalhyperplasiawithcholestaticjaundice AT fsaffari lipoidcongenitaladrenalhyperplasiawithcholestaticjaundice
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Lipoid Congenital Adrenal Hyperplasia with Cholestatic Jaundice

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