Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism - a clinical perspective

被引：14

作者：

Al Sayed, Yasmin ^{[1
]}

Howard, Sasha R. R. ^{[1
,2
]}

机构：

[1] Queen Mary Univ London, William Harvey Res Inst, Ctr Endocrinol, London, England

[2] Barts Hlth NHS Trust, Royal London Childrens Hosp, Dept Paediat Endocrinol, London, England

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2023年 / 31卷 / 04期

基金：

英国惠康基金;

关键词：

OF-FUNCTION MUTATIONS; KALLMANN-SYNDROME; CONSTITUTIONAL DELAY; HORMONE REPLACEMENT; BETA-SUBUNIT; INHIBIN B; GONADOTROPIN; PUBERTY; FAMILY; GROWTH;

D O I：

10.1038/s41431-022-01261-0

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Congenital hypogonadotropic hypogonadism (CHH) is a rare endocrine disorder that results in reproductive hormone deficiency and reduced potential for fertility in adult life. Discoveries of the genetic aetiology of CHH have advanced dramatically in the past 30 years, with currently over 40 genes recognised to cause or contribute to the development of this condition. The genetic complexity of CHH is further increased by the observation of di- and oligogenic, as well as classic monogenic, inheritance and incomplete penetrance. Very recently in the UK, a panel of 14 genes has been curated for the genetic diagnosis of CHH within the NHS Genomic Medicine Service programme. The aim of this review is to appraise the advantages and potential pitfalls of the use of a CHH panel in clinical endocrine diagnostics, and to consider the future avenues for developing this panel including the potential of whole exome or whole genome sequencing data analysis in this condition.

引用

页码：387 / 394

页数：8

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