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hrp0084p2-541 | Puberty | ESPE2015

Distribution of Mutations in Genes Known to be Associated with Familial Idiopathic Hypogonadotropic Hypogonadism in a Large Cohort

Kotan L. Damla , Mengen Eda , Gurbuz Fatih , Ozsu Elif , Tunc Selma , Kor Yilmaz , Cakir Esra P. , Abaci Ayhan , Demir Korcan , Akcay Teoman , Kirel Birgul , Kinik Sibel T. , Ozen Samim , Ucakturk Ahmet , Bideci Aysun , Durmaz Erdem , Unluhizarci Kursad , Turan Ihsan , Yuksel Bilgin , Topaloglu A. Kemal

Background: Idiopathic hypogonadotropic hypogonadism (IHH) is characterised by failure of initiation or maintenance of puberty due to insufficient gonadotropin release, which is not associated with anosmia/hyposmia.Objective and hypotheses: The objective of this study was to determine the distribution of causative mutations in an hereditary form of IHH.Method: In this prospective collaborative study, families with more than one aff...

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ESPE Abstracts

Distribution of Mutations in Genes Known to be Associated with Familial Idiopathic Hypogonadotropic Hypogonadism in a Large Cohort

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