Hypogonadotropic Hypogonadism due to a Novel Missense Mutation in the First Extracellular Loop of the Neurokinin B Receptor

GÜRAN T., Tolhurst G., BEREKET A., Rocha N., Porter K., Turan S., ...Daha Fazla

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, cilt.94, sa.10, ss.3633-3639, 2009 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 94 Sayı: 10
  • Basım Tarihi: 2009
  • Doi Numarası: 10.1210/jc.2009-0551
  • Dergi Adı: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.3633-3639
  • Çukurova Üniversitesi Adresli: Evet

Özet

Context: The neurokinin B (NKB) receptor, encoded by TACR3, is widely expressed within the central nervous system, including hypothalamic nuclei involved in regulating GnRH release. We have recently reported two mutations in transmembrane segments of the receptor and a missense mutation in NKB in patients with normosmic isolated hypogonadotropic hypogonadism (nIHH).