Distribution of Gene Mutations Associated with Familial Normosmic Idiopathic Hypogonadotropic Hypogonadism

GÜRBÜZ, FATİH; KOTAN, LEMAN; Mengen, Eda; ŞIKLAR, ZEYNEP; BERBEROĞLU, MERİH; Dokmetas, Sebila; Kilicli, Mehmet; Guven, Ayla; KIREL, BİRGÜL; Saka, Nurcin; Poyrazoglu, Sukran; Cesur, Yasar; Doğan, Murat; Ozen, Samim; Ozbek, Mehmet; Demirbilek, Huseyin; Kekil, M.; Temiz, Fatih; Mungan, Neslihan; YÜKSEL, BİLGİN; TOPALOĞLU, ALİ

doi:10.4274/jcrpe.725

Distribution of Gene Mutations Associated with Familial Normosmic Idiopathic Hypogonadotropic Hypogonadism

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

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, vol.4, no.3, pp.121-126, 2012 (SCI-Expanded, Scopus)

Publication Type: Article / Article
Volume: 4 Issue: 3
Publication Date: 2012
Doi Number: 10.4274/jcrpe.725
Journal Name: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Page Numbers: pp.121-126
Keywords: Normosmic idiopathic hypogonadotropic hypogonadism, gene, mutation, HORMONE RECEPTOR GENE, NEUROKININ B, DEFICIENCY, WOMAN
Ankara University Affiliated: Yes

Abstract

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.