Leydig cell hypoplasia type 1 diagnosed in early childhood with inactivating mutation in LHCGR gene


Özgüç Çömlek F., Yıldız R., Seyrek F., Tütüncüler F.

Oxford Medical Case Reports, cilt.4, ss.153-155, 2021 (ESCI)

  • Yayın Türü: Makale / Vaka Takdimi
  • Cilt numarası: 4
  • Basım Tarihi: 2021
  • Dergi Adı: Oxford Medical Case Reports
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI)
  • Sayfa Sayıları: ss.153-155
  • İstanbul Üniversitesi Adresli: Evet

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.