Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families

Demirbilek H., Ozbek M. N., Demir K., KOTAN L. D., Cesur Y., Dogan M., ...Daha Fazla

CLINICAL ENDOCRINOLOGY, cilt.82, sa.3, ss.429-438, 2015 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 82 Sayı: 3
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1111/cen.12618
  • Dergi Adı: CLINICAL ENDOCRINOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.429-438
  • Çukurova Üniversitesi Adresli: Evet

Özet

ObjectiveThe spectrum of genetic alterations in cases of hypogonadotropic hypogonadism continue to expand. However, KISS1R mutations remain rare. The aim of this study was to understand the molecular basis of normosmic idiopathic hypogonadotropic hypogonadism.