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; KİREL, BİRGÜL; Saka, Nurcin; Poyrazoglu, Sukran; Cesur, Yasar; Dogan, Murat; Ozen, Samim; Ozbek, Mehmet; Demirbilek, Huseyin; Kekil, M.; Temiz, Fatih; Mungan, H.NESLİHAN; 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., ...Daha Fazla

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

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
Çukurova 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.