Reversible hypogonadotropic hypogonadism

被引：42

作者：

Dwyer, Andrew A. ^{[1
,2
]}

Raivio, Taneli ^{[3
,4
]}

Pitteloud, Nelly ^{[1
,2
,5
]}

机构：

[1] Endocrinol Diabet & Metab Serv, Rue Bugnon 46, CH-1011 Lausanne, Switzerland

[2] CHU Vaudois, Rue Bugnon 46, CH-1011 Lausanne, Switzerland

[3] Univ Helsinki, Fac Med Physiol, Helsinki, Finland

[4] Univ Helsinki, Childrens Hosp, Cent Hosp HUCH, Helsinki, Finland

[5] Univ Lausanne, Fac Biol & Med, Dept Physiol, Rue Bugnon 7, CH-1005 Lausanne, Switzerland

来源：

EUROPEAN JOURNAL OF ENDOCRINOLOGY | 2016年 / 174卷 / 06期

基金：

瑞士国家科学基金会;

关键词：

GONADOTROPIN-RELEASING-HORMONE; HOMOZYGOUS R262Q MUTATION; LINKED KALLMANN-SYNDROME; DELAYED PUBERTY; CANDIDATE GENE; FERTILE EUNUCH; RECEPTOR GENE; DEFICIENCY; INDUCTION; PULSATILE;

D O I：

10.1530/EJE-15-1033

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Congenital hypogonadotropic hypogonadism (CHH) is characterized by lack of puberty and infertility. Traditionally, it has been considered a life-long condition yet cases of reversibility have been described wherein patients spontaneously recover function of the reproductive axis following treatment. Reversibility occurs in both male and female CHH cases and appears to be more common (similar to 10-15%) than previously thought. These reversal patients span a range of GnRH deficiency from mild to severe and many reversal patients harbor mutations in genes underlying CHH. However, to date there are no clear factors for predicting reversible CHH. Importantly, recovery of reproductive axis function may not be permanent. Thus, CHH is not always life-long and the incidence of reversal warrants periodic treatment withdrawal with close monitoring and follow-up. Reversible CHH highlights the importance of environmental (epigenetic) factors such as sex steroid treatment on the reproductive axis in modifying the phenotype. This review provides an overview and an update on what is known about this phenomenon.

引用

页码：R267 / R274

页数：8

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