Distribution of Gene Mutations Associated with Familial Normosmic Idiopathic Hypogonadotropic Hypogonadism


GÜRBÜZ F., KOTAN L. D., Mengen E., ŞIKLAR Z., BERBEROĞLU M., Dokmetas S., ...Daha Fazla

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, cilt.4, sa.3, ss.121-126, 2012 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 4 Sayı: 3
  • Basım Tarihi: 2012
  • Doi Numarası: 10.4274/jcrpe.725
  • Dergi Adı: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.121-126
  • Anahtar Kelimeler: Normosmic idiopathic hypogonadotropic hypogonadism, gene, mutation, HORMONE RECEPTOR GENE, NEUROKININ B, DEFICIENCY, WOMAN
  • Eskişehir Osmangazi Üniversitesi Adresli: Evet

Özet

Objective: Normosmic idiopathic hypogonadotropic hypogonadism (nIHH) is characterized by failure of initiation or maintenance of puberty due to insufficient gonadotropin release, which is not associated with anosmia/hyposmia. The objective of this study was to determine the distribution of causative mutations in a hereditary form of nIHH.