A rare cause of primary amenorrhea: LHCGR gene mutations.

doi:10.1016/j.ejogrb.2022.03.033

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Article

A rare cause of primary amenorrhea: LHCGR gene mutations.

European journal of obstetrics, gynecology, and reproductive biology - 1 May 2022

Aktar Karakaya Amine, Çayır Atilla, Unal Edip, Beştaş Aslı, Ece Solmaz Aslı, Kenan Haspolat Yusuf

Abstract excerpt

INTRODUCTION: The luteinizing hormone/choriogonadotropin receptor (LHCGR) plays a critical role in sexual differentiation and reproductive functions in men and women. Inactivating mutations in this gene lead to Leydig cell hypoplasia (LCH), and cause disorders of sex development (DSD) in patients with 46,XY. In this study, it was aimed to discuss the clinical, laboratory and molecular genetic analysis results of...

Topics

Amenorrhea
Disorder of Sex Development, 46,XY
Female
Humans
Male
Mutation
Receptors, LH
Retrospective Studies
Testis

Source

Open in PubMed

Identifiers

PMID: 35366614
DOI: 10.1016/j.ejogrb.2022.03.033

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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