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

Demirbilek, HÜSEYİN; Ozbek, M.; Demir, Korcan; KOTAN, LEMAN; Cesur, Yasar; Dogan, Murat; Temiz, Fatih; Mengen, Eda; GÜRBÜZ, FATİH; YÜKSEL, BİLGİN; Topaloglu, A.

doi:10.1111/cen.12618

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

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

CLINICAL ENDOCRINOLOGY, vol.82, no.3, pp.429-438, 2015 (SCI-Expanded)

Publication Type: Article / Article
Volume: 82 Issue: 3
Publication Date: 2015
Doi Number: 10.1111/cen.12618
Journal Name: CLINICAL ENDOCRINOLOGY
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Page Numbers: pp.429-438
Hacettepe University Affiliated: Yes

Abstract

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.