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Article

Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism.

Journal of clinical research in pediatric endocrinology - 1 Sept 2012

Gürbüz Fatih, Kotan L Damla, Mengen Eda, Şıklar Zeynep, Berberoğlu Merih, Dökmetaş Sebila, Kılıçlı Mehmet Fatih, Güven Ayla, Kirel Birgül, Saka Nurçin, Poyrazoğlu Şükran, Cesur Yaşar, Doğan Murat, Özen Samim, Özbek Mehmet Nuri, Demirbilek Hüseyin, Kekil M Burcu, Temiz Fatih, Önenli Mungan Neslihan, Yüksel Bilgin, Topaloğlu Ali Kemal

Abstract excerpt

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. METHODS: In this prospective collaborative study, 22 families with more...

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Source

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Identifiers

PMID: 22766261
DOI: 10.4274/jcrpe.725
PMCID: PMC3459159

Genes

GNRHR
TACR3
KISS1
TAC3

Provenance

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