HSD10 disease in a female: A case report and review of literature

Abstract HSD10 disease is a rare X‐linked mitochondrial disorder caused by pathogenic variants in the HSD17B10 gene. The phenotype results from impaired 17β‐hydroxysteroid dehydrogenase 10 (17β‐HSD10) protein structure and function. HSD10 is a multifunctional protein involved in enzymatic degradatio...

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Autores principales:	Jariya Upadia, Nicolette Walano, Grace S. Noh, Jiao Liu, Yuwen Li, Stephen Deputy, Lindsay T. Elliott, Joaquin Wong, Jennifer A. Lee, Raymond C. Caylor, Hans C. Andersson
Formato:	article
Lenguaje:	EN
Publicado:	Wiley 2021
Materias:	2‐methyl‐3‐hydroxy‐butyryl‐CoA dehydrogenase (MHBD) deficiency HSD10 disease mitochondrial disorder skewed X inactivation X‐chromosome inactivation (XCI) X‐chromosome inactivation study Diseases of the endocrine glands. Clinical endocrinology RC648-665 Genetics QH426-470
Acceso en línea:	https://doaj.org/article/3fbc2e6e2cdf41bfaec3c78531e62197
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spelling	oai:doaj.org-article:3fbc2e6e2cdf41bfaec3c78531e621972021-11-08T13:27:18ZHSD10 disease in a female: A case report and review of literature2192-831210.1002/jmd2.12250https://doaj.org/article/3fbc2e6e2cdf41bfaec3c78531e621972021-11-01T00:00:00Zhttps://doi.org/10.1002/jmd2.12250https://doaj.org/toc/2192-8312Abstract HSD10 disease is a rare X‐linked mitochondrial disorder caused by pathogenic variants in the HSD17B10 gene. The phenotype results from impaired 17β‐hydroxysteroid dehydrogenase 10 (17β‐HSD10) protein structure and function. HSD10 is a multifunctional protein involved in enzymatic degradation of isoleucine and branched‐chain fatty acids, the metabolism of sex hormones and neurosteroids, as well as in regulating mitochondrial RNA maturation. HSD10 disease is characterised by progressive neurologic impairment. Disease onset is varied and includes neonatal‐onset, infantile‐onset and late‐onset in males. Females can also be affected. Our index case is a 45‐month‐old female, who initially presented at 11 months of age with global developmental delay. She subsequently began to lose previously acquired cognitive and motor skills starting around 29 months of age. Brain MRI showed abnormalities in the basal ganglia indicative of possible mitochondrial disease. Urine organic acid analysis revealed elevations of 2‐methyl‐3‐hydroxybutyric acid and tiglyglycine. HSD17B10 gene sequencing revealed a likely pathogenic variant, NM_001037811.2:c.439C>T (p.Arg147Cys) inherited from her mother, expected to be causative of HSD10 disease. Her X‐chromosome inactivation study is consistent with a skewed X‐inactivation pattern. We report a female patient with HSD10 disease caused by a missense pathogenic variant, Arg147Cys in the HSD17B10 gene. The patient is the fifth severely affected female with this disease. This case adds to the small number of known affected families with this highly variable disease in the literature. These findings support the possibility of X‐inactivation patterns influencing the penetrance of HSD10 disease in females.Jariya UpadiaNicolette WalanoGrace S. NohJiao LiuYuwen LiStephen DeputyLindsay T. ElliottJoaquin WongJennifer A. LeeRaymond C. CaylorHans C. AnderssonWileyarticle2‐methyl‐3‐hydroxy‐butyryl‐CoA dehydrogenase (MHBD) deficiencyHSD10 diseasemitochondrial disorderskewed X inactivationX‐chromosome inactivation (XCI)X‐chromosome inactivation studyDiseases of the endocrine glands. Clinical endocrinologyRC648-665GeneticsQH426-470ENJIMD Reports, Vol 62, Iss 1, Pp 35-43 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	2‐methyl‐3‐hydroxy‐butyryl‐CoA dehydrogenase (MHBD) deficiency HSD10 disease mitochondrial disorder skewed X inactivation X‐chromosome inactivation (XCI) X‐chromosome inactivation study Diseases of the endocrine glands. Clinical endocrinology RC648-665 Genetics QH426-470
spellingShingle	2‐methyl‐3‐hydroxy‐butyryl‐CoA dehydrogenase (MHBD) deficiency HSD10 disease mitochondrial disorder skewed X inactivation X‐chromosome inactivation (XCI) X‐chromosome inactivation study Diseases of the endocrine glands. Clinical endocrinology RC648-665 Genetics QH426-470 Jariya Upadia Nicolette Walano Grace S. Noh Jiao Liu Yuwen Li Stephen Deputy Lindsay T. Elliott Joaquin Wong Jennifer A. Lee Raymond C. Caylor Hans C. Andersson HSD10 disease in a female: A case report and review of literature
description	Abstract HSD10 disease is a rare X‐linked mitochondrial disorder caused by pathogenic variants in the HSD17B10 gene. The phenotype results from impaired 17β‐hydroxysteroid dehydrogenase 10 (17β‐HSD10) protein structure and function. HSD10 is a multifunctional protein involved in enzymatic degradation of isoleucine and branched‐chain fatty acids, the metabolism of sex hormones and neurosteroids, as well as in regulating mitochondrial RNA maturation. HSD10 disease is characterised by progressive neurologic impairment. Disease onset is varied and includes neonatal‐onset, infantile‐onset and late‐onset in males. Females can also be affected. Our index case is a 45‐month‐old female, who initially presented at 11 months of age with global developmental delay. She subsequently began to lose previously acquired cognitive and motor skills starting around 29 months of age. Brain MRI showed abnormalities in the basal ganglia indicative of possible mitochondrial disease. Urine organic acid analysis revealed elevations of 2‐methyl‐3‐hydroxybutyric acid and tiglyglycine. HSD17B10 gene sequencing revealed a likely pathogenic variant, NM_001037811.2:c.439C>T (p.Arg147Cys) inherited from her mother, expected to be causative of HSD10 disease. Her X‐chromosome inactivation study is consistent with a skewed X‐inactivation pattern. We report a female patient with HSD10 disease caused by a missense pathogenic variant, Arg147Cys in the HSD17B10 gene. The patient is the fifth severely affected female with this disease. This case adds to the small number of known affected families with this highly variable disease in the literature. These findings support the possibility of X‐inactivation patterns influencing the penetrance of HSD10 disease in females.
format	article
author	Jariya Upadia Nicolette Walano Grace S. Noh Jiao Liu Yuwen Li Stephen Deputy Lindsay T. Elliott Joaquin Wong Jennifer A. Lee Raymond C. Caylor Hans C. Andersson
author_facet	Jariya Upadia Nicolette Walano Grace S. Noh Jiao Liu Yuwen Li Stephen Deputy Lindsay T. Elliott Joaquin Wong Jennifer A. Lee Raymond C. Caylor Hans C. Andersson
author_sort	Jariya Upadia
title	HSD10 disease in a female: A case report and review of literature
title_short	HSD10 disease in a female: A case report and review of literature
title_full	HSD10 disease in a female: A case report and review of literature
title_fullStr	HSD10 disease in a female: A case report and review of literature
title_full_unstemmed	HSD10 disease in a female: A case report and review of literature
title_sort	hsd10 disease in a female: a case report and review of literature
publisher	Wiley
publishDate	2021
url	https://doaj.org/article/3fbc2e6e2cdf41bfaec3c78531e62197
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HSD10 disease in a female: A case report and review of literature

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