Scopus
🔓 Açık Erişim YÖKSİS Eşleşti
Leydig cell hypoplasia type 1 diagnosed in early childhood with inactivating mutation in LHCGR gene
Oxford Medical Case Reports · Nisan 2021
YÖKSİS Kayıtları
LEYDIG CELL HYPOPLASIA TYPE 1 DIAGNOSED IN EARLY CHILDHOOD WITH INACTIVATING MUTATION IN LHCGR GENE
OCFORD MEDICAL CASE REPORT · 2021 ESCI
DOKTOR ÖĞRETİM ÜYESİ FATMA ÖZGÜÇ ÇÖMLEK →
Makale Bilgileri
DergiOxford Medical Case Reports
Yayın TarihiNisan 2021
Cilt / Sayfa2021 · 153-155
Scopus ID2-s2.0-85126688564
Erişim🔓 Açık Erişim
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.
Yazarlar (4)
1
Fatma Özgüç Çömlek
ORCID: 0000-0002-2752-3480
2
Raif Yildiz
3
Fatma Seyrek
4
Filiz Tutunculer
Anahtar Kelimeler
hypoplasia
Leydig cell
sex development
Kurumlar
Trakya University, Faculty of Medicine
Edirne Turkey