Open AccessLeydig cell hypoplasia type 1 diagnosed in early childhood with inactivating mutation in LHCGR gene
Author(s) -
Fatma Özgüç Çömlek,
Raif Yıldız,
Fatma Neslihan Çuhacı Seyrek,
Filiz Tütüncüler
Publication year - 2021
Publication title -
oxford medical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.169
H-Index - 9
ISSN - 2053-8855
DOI - 10.1093/omcr/omab015
Subject(s) - hypoplasia , aplasia , medicine , mutation , leydig cell , pediatrics , differential diagnosis , gene , hormone , endocrinology , pathology , genetics , biology , luteinizing hormone
Leydig cell aplasia/hypoplasia is an autosomal recessive condition. In its complete form, these patients are 46XY but are cryptorchid and phenotypically female. Most cases reported in literature presented with in adolescence with pubertal delay. We reported a case with a predefined mutation in the LHCGR gene, presenting with swelling in the inguinal region and therefore diagnosed in early childhood. We wanted to emphasize the necessity of keeping Leydig cell hypoplasia in mind in the differential diagnosis of sexual development disorders in early childhood.