Congenital hypopituitarism due to novel compound heterozygous POU1F1 gene mutation: A case report and review of the literature

Failure to thrive is one of the most common complaints in the endocrinology and genetics clinic. An 8-month-old girl with presentation of motor developmental delay, failure to thrive, and midline facial defects, with history of hypoglycemia at birth and central congenital hypothyroidism (CCH), was b...

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Autores principales:	Wei-Yu Chen, Dau-Ming Niu, Li-Zhen Chen, Chia-Feng Yang
Formato:	article
Lenguaje:	EN
Publicado:	Elsevier 2021
Materias:	Failure to thrive Whole exome sequence Midline facial defect POU1F1 mutation Medicine (General) R5-920 Biology (General) QH301-705.5
Acceso en línea:	https://doaj.org/article/ba991ab477b649d5af3dcdda78dbb4b5
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spelling	oai:doaj.org-article:ba991ab477b649d5af3dcdda78dbb4b52021-11-14T04:33:00ZCongenital hypopituitarism due to novel compound heterozygous POU1F1 gene mutation: A case report and review of the literature2214-426910.1016/j.ymgmr.2021.100819https://doaj.org/article/ba991ab477b649d5af3dcdda78dbb4b52021-12-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S2214426921001142https://doaj.org/toc/2214-4269Failure to thrive is one of the most common complaints in the endocrinology and genetics clinic. An 8-month-old girl with presentation of motor developmental delay, failure to thrive, and midline facial defects, with history of hypoglycemia at birth and central congenital hypothyroidism (CCH), was brought to our genetic clinic. Hormone test demonstrated combined pituitary hormone deficiency with growth hormone deficiency (GHD), central hypothyroidism, and hypoprolactinemia. Brain magnetic resonance imaging (MRI) showed anterior pituitary hypoplasia (APH), abnormal pituitary stalk, and preserved posterior pituitary lobe. Whole exome sequence (WES) identified a compound heterozygous mutation of the POU1F1 gene: c.649C>T (p.Arg217Ter) and c.662T>C (p.Ile221Thr), which are de novo mutation and inherited from mother, respectively. The patient's phenotype was consistent clinically with congenital hypopituitarism due to the POU1F1 gene mutation. Based on our literature review, this is the first report of the c.662T>C mutation, to the best of our knowledge. Our study demonstrates the power of WES for early diagnosis of congenital hypopituitarism with its relative phenotype for improving prognosis and preventing irreversible deficit.Wei-Yu ChenDau-Ming NiuLi-Zhen ChenChia-Feng YangElsevierarticleFailure to thriveWhole exome sequenceMidline facial defectPOU1F1 mutationMedicine (General)R5-920Biology (General)QH301-705.5ENMolecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100819- (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Failure to thrive Whole exome sequence Midline facial defect POU1F1 mutation Medicine (General) R5-920 Biology (General) QH301-705.5
spellingShingle	Failure to thrive Whole exome sequence Midline facial defect POU1F1 mutation Medicine (General) R5-920 Biology (General) QH301-705.5 Wei-Yu Chen Dau-Ming Niu Li-Zhen Chen Chia-Feng Yang Congenital hypopituitarism due to novel compound heterozygous POU1F1 gene mutation: A case report and review of the literature
description	Failure to thrive is one of the most common complaints in the endocrinology and genetics clinic. An 8-month-old girl with presentation of motor developmental delay, failure to thrive, and midline facial defects, with history of hypoglycemia at birth and central congenital hypothyroidism (CCH), was brought to our genetic clinic. Hormone test demonstrated combined pituitary hormone deficiency with growth hormone deficiency (GHD), central hypothyroidism, and hypoprolactinemia. Brain magnetic resonance imaging (MRI) showed anterior pituitary hypoplasia (APH), abnormal pituitary stalk, and preserved posterior pituitary lobe. Whole exome sequence (WES) identified a compound heterozygous mutation of the POU1F1 gene: c.649C>T (p.Arg217Ter) and c.662T>C (p.Ile221Thr), which are de novo mutation and inherited from mother, respectively. The patient's phenotype was consistent clinically with congenital hypopituitarism due to the POU1F1 gene mutation. Based on our literature review, this is the first report of the c.662T>C mutation, to the best of our knowledge. Our study demonstrates the power of WES for early diagnosis of congenital hypopituitarism with its relative phenotype for improving prognosis and preventing irreversible deficit.
format	article
author	Wei-Yu Chen Dau-Ming Niu Li-Zhen Chen Chia-Feng Yang
author_facet	Wei-Yu Chen Dau-Ming Niu Li-Zhen Chen Chia-Feng Yang
author_sort	Wei-Yu Chen
title	Congenital hypopituitarism due to novel compound heterozygous POU1F1 gene mutation: A case report and review of the literature
title_short	Congenital hypopituitarism due to novel compound heterozygous POU1F1 gene mutation: A case report and review of the literature
title_full	Congenital hypopituitarism due to novel compound heterozygous POU1F1 gene mutation: A case report and review of the literature
title_fullStr	Congenital hypopituitarism due to novel compound heterozygous POU1F1 gene mutation: A case report and review of the literature
title_full_unstemmed	Congenital hypopituitarism due to novel compound heterozygous POU1F1 gene mutation: A case report and review of the literature
title_sort	congenital hypopituitarism due to novel compound heterozygous pou1f1 gene mutation: a case report and review of the literature
publisher	Elsevier
publishDate	2021
url	https://doaj.org/article/ba991ab477b649d5af3dcdda78dbb4b5
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Congenital hypopituitarism due to novel compound heterozygous POU1F1 gene mutation: A case report and review of the literature

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