Clinical applications of genetic analysis and liquid chromatography tandem-mass spectrometry in rare types of congenital adrenal hyperplasia

Abstract Background Our study aims to summarize the clinical characteristics of rare types of congenital adrenal hyperplasia (CAH) other than 21-hydroxylase deficiency (21-OHD), and to explore the clinical applications of genetic analysis and liquid chromatography tandem-mass spectrometry (LC-MS/MS)...

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Autores principales:	Zhuoguang Li, Yan Liang, Caiqi Du, Xiao Yu, Ling Hou, Wei Wu, Yanqing Ying, Xiaoping Luo
Formato:	article
Lenguaje:	EN
Publicado:	BMC 2021
Materias:	Congenital adrenal hyperplasia Lipoid congenital adrenal hyperplasia 11β-hydroxylase deficiency 3β-hydroxysteroid dehydrogenase deficiency P450 oxidoreductase deficiency Diseases of the endocrine glands. Clinical endocrinology RC648-665
Acceso en línea:	https://doaj.org/article/ff527ba60f834df5b42585fcdf67a384
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spelling	oai:doaj.org-article:ff527ba60f834df5b42585fcdf67a3842021-11-28T12:03:12ZClinical applications of genetic analysis and liquid chromatography tandem-mass spectrometry in rare types of congenital adrenal hyperplasia10.1186/s12902-021-00901-81472-6823https://doaj.org/article/ff527ba60f834df5b42585fcdf67a3842021-11-01T00:00:00Zhttps://doi.org/10.1186/s12902-021-00901-8https://doaj.org/toc/1472-6823Abstract Background Our study aims to summarize the clinical characteristics of rare types of congenital adrenal hyperplasia (CAH) other than 21-hydroxylase deficiency (21-OHD), and to explore the clinical applications of genetic analysis and liquid chromatography tandem-mass spectrometry (LC-MS/MS) in rare CAH. Methods We retrospectively analysed the clinical data of 5 rare cases of CAH admitted to our hospital and summarized their clinical manifestations, auxiliary examinations, diagnosis and mutational spectrum. Results After gene sequencing, complex heterozygous variants were detected in all patients (2 cases were lipoid congenital adrenal hyperplasia (LCAH), 11β-hydroxylase deficiency (11β-OHD), 3β-hydroxysteroid dehydrogenase deficiency (3β-HSD deficiency) and P450 oxidoreductase deficiency (PORD) each accounted for 1 case), which were consistent with their clinical manifestations. Among them, 4 novel variants were detected, including c.650 + 2 T > A of the StAR gene, c.1145 T > C (p. L382P) of the CYP11B1 gene, c.1622C > T (p. A541V) and c.1804C > T (p. Q602 *) of the POR gene. The LC-MS/MS results for steroid hormones in patients were also consistent with their genetic variants: 2 patients with LCAH showed a decrease in all steroid hormones; 11β-OHD patient showed a significant increase in 11-deoxycortisol and 11-deoxycorticosterone; patient with 3β-HSD deficiency showed a significant increase in DHEA; and PORD patient was mainly characterized by elevated 17OHP, progesterone and impaired synthesis of androgen levels. Conclusions The clinical manifestations and classification of CAH are complicated, and there are cases of missed diagnosis or misdiagnosis. It’s necessary to combine the analysis of clinical manifestations and auxiliary examinations for diagnosis; if necessary, LC-MS/MS analysis of steroid hormones or gene sequencing is recommended for confirming diagnosis and typing.Zhuoguang LiYan LiangCaiqi DuXiao YuLing HouWei WuYanqing YingXiaoping LuoBMCarticleCongenital adrenal hyperplasiaLipoid congenital adrenal hyperplasia11β-hydroxylase deficiency3β-hydroxysteroid dehydrogenase deficiencyP450 oxidoreductase deficiencyDiseases of the endocrine glands. Clinical endocrinologyRC648-665ENBMC Endocrine Disorders, Vol 21, Iss 1, Pp 1-7 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Congenital adrenal hyperplasia Lipoid congenital adrenal hyperplasia 11β-hydroxylase deficiency 3β-hydroxysteroid dehydrogenase deficiency P450 oxidoreductase deficiency Diseases of the endocrine glands. Clinical endocrinology RC648-665
spellingShingle	Congenital adrenal hyperplasia Lipoid congenital adrenal hyperplasia 11β-hydroxylase deficiency 3β-hydroxysteroid dehydrogenase deficiency P450 oxidoreductase deficiency Diseases of the endocrine glands. Clinical endocrinology RC648-665 Zhuoguang Li Yan Liang Caiqi Du Xiao Yu Ling Hou Wei Wu Yanqing Ying Xiaoping Luo Clinical applications of genetic analysis and liquid chromatography tandem-mass spectrometry in rare types of congenital adrenal hyperplasia
description	Abstract Background Our study aims to summarize the clinical characteristics of rare types of congenital adrenal hyperplasia (CAH) other than 21-hydroxylase deficiency (21-OHD), and to explore the clinical applications of genetic analysis and liquid chromatography tandem-mass spectrometry (LC-MS/MS) in rare CAH. Methods We retrospectively analysed the clinical data of 5 rare cases of CAH admitted to our hospital and summarized their clinical manifestations, auxiliary examinations, diagnosis and mutational spectrum. Results After gene sequencing, complex heterozygous variants were detected in all patients (2 cases were lipoid congenital adrenal hyperplasia (LCAH), 11β-hydroxylase deficiency (11β-OHD), 3β-hydroxysteroid dehydrogenase deficiency (3β-HSD deficiency) and P450 oxidoreductase deficiency (PORD) each accounted for 1 case), which were consistent with their clinical manifestations. Among them, 4 novel variants were detected, including c.650 + 2 T > A of the StAR gene, c.1145 T > C (p. L382P) of the CYP11B1 gene, c.1622C > T (p. A541V) and c.1804C > T (p. Q602 *) of the POR gene. The LC-MS/MS results for steroid hormones in patients were also consistent with their genetic variants: 2 patients with LCAH showed a decrease in all steroid hormones; 11β-OHD patient showed a significant increase in 11-deoxycortisol and 11-deoxycorticosterone; patient with 3β-HSD deficiency showed a significant increase in DHEA; and PORD patient was mainly characterized by elevated 17OHP, progesterone and impaired synthesis of androgen levels. Conclusions The clinical manifestations and classification of CAH are complicated, and there are cases of missed diagnosis or misdiagnosis. It’s necessary to combine the analysis of clinical manifestations and auxiliary examinations for diagnosis; if necessary, LC-MS/MS analysis of steroid hormones or gene sequencing is recommended for confirming diagnosis and typing.
format	article
author	Zhuoguang Li Yan Liang Caiqi Du Xiao Yu Ling Hou Wei Wu Yanqing Ying Xiaoping Luo
author_facet	Zhuoguang Li Yan Liang Caiqi Du Xiao Yu Ling Hou Wei Wu Yanqing Ying Xiaoping Luo
author_sort	Zhuoguang Li
title	Clinical applications of genetic analysis and liquid chromatography tandem-mass spectrometry in rare types of congenital adrenal hyperplasia
title_short	Clinical applications of genetic analysis and liquid chromatography tandem-mass spectrometry in rare types of congenital adrenal hyperplasia
title_full	Clinical applications of genetic analysis and liquid chromatography tandem-mass spectrometry in rare types of congenital adrenal hyperplasia
title_fullStr	Clinical applications of genetic analysis and liquid chromatography tandem-mass spectrometry in rare types of congenital adrenal hyperplasia
title_full_unstemmed	Clinical applications of genetic analysis and liquid chromatography tandem-mass spectrometry in rare types of congenital adrenal hyperplasia
title_sort	clinical applications of genetic analysis and liquid chromatography tandem-mass spectrometry in rare types of congenital adrenal hyperplasia
publisher	BMC
publishDate	2021
url	https://doaj.org/article/ff527ba60f834df5b42585fcdf67a384
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Clinical applications of genetic analysis and liquid chromatography tandem-mass spectrometry in rare types of congenital adrenal hyperplasia

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