Leydig cell hypoplasia type 1 diagnosed in early childhood with inactivating mutation in LHCGR gene
Küçük Resim Yok
Tarih
2021
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Oxford Univ Press
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
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.
Açıklama
Anahtar Kelimeler
Leydig Cell, Hypoplasia, Sex Development, Luteinizing-Hormone-Receptor
Kaynak
Oxford Medical Case Reports
WoS Q Değeri
N/A
Scopus Q Değeri
Q4
Cilt
Sayı
4
