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

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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)

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.