Distribution of Gene Mutations Associated with Familial Normosmic Idiopathic Hypogonadotropic Hypogonadism

التفاصيل البيبلوغرافية
العنوان:	Distribution of Gene Mutations Associated with Familial Normosmic Idiopathic Hypogonadotropic Hypogonadism
المؤلفون:	Gurbuz, Fatih, Kotan, L. Damla, Mengen, Eda, Siklar, Zeynep, Berberoglu, Merih, Dokmetas, Sebila, Kilicli, Mehmet Fatih, Guven, Ayla, Kirel, Birgul, Saka, Nurcin, Poyrazoglu, Sukran, Cesur, Yasar, Dogan, Murat, Ozen, Samim, Ozbek, Mehmet Nuri, Demirbilek, Huseyin, Kekil, M. Burcu, Temiz, Fatih, Mungan, Neslihan Onenli, Yuksel, Bilgin, Topaloglu, Ali Kemal
المساهمون:	Gurbuz, Fatih -- Mengen, Eda -- Temiz, Fatih -- Mungan, Neslihan Onenli -- Yuksel, Bilgin -- Topaloglu, Ali Kemal Cukurova Univ, Fac Med, Dept Pediat Endocrinol, Adana, Turkey -- Kotan, L. Damla -- Kekil, M. Burcu -- Topaloglu, Ali Kemal Cukurova Univ, Inst Sci, Dept Biotechnol, Adana, Turkey -- Siklar, Zeynep -- Berberoglu, Merih Ankara Univ, Fac Med, Dept Pediat Endocrinol, TR-06100 Ankara, Turkey -- Dokmetas, Sebila -- Kilicli, Mehmet Fatih Cumhuriyet Univ, Dept Endocrinol, Fac Med, Sivas, Turkey -- Guven, Ayla Goztepe Educ & Res Hosp, Dept Pediat Endocrinol, Istanbul, Turkey -- Kirel, Birgul Osmangazi Univ, Dept Pediat Endocrinol, Fac Med, Eskisehir, Turkey -- Saka, Nurcin -- Poyrazoglu, Sukran Istanbul Univ, Fac Med, Dept Pediat Endocrinol, Istanbul, Turkey -- Cesur, Yasar -- Dogan, Murat Yuzuncu Yil Univ, Dept Pediat Endocrinol, Fac Med, Van, Turkey -- Ozen, Samim Mersin Childrens Hosp, Dept Pediat Endocrinol, Mersin, Turkey -- Ozbek, Mehmet Nuri -- Demirbilek, Huseyin Diyarbakir Childrens Hosp, Dept Pediat Endocrinol, Diyarbakir, Turkey, Onenli Mungan, Halise Neslihan -- 0000-0001-7862-3038, GUVEN, AYLA -- 0000-0002-2026-1326, Kotan, Leman Damla -- 0000-0001-6176-8986, gurbuz, fatih -- 0000-0003-2160-9838, yuksel, bilgin -- 0000-0003-4378-3255
بيانات النشر:	TURKISH PEDIATRIC ENDOCRINOLOGY & DIABETES SOCIETY
سنة النشر:	2012
المجموعة:	Sivas Cumhuriyet University Institutional Repository
مصطلحات موضوعية:	Normosmic idiopathic hypogonadotropic hypogonadism, gene, mutation
الوصف:	WOS: 000209012700002 ; PubMed ID: 22766261 ; 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 than one affected individual (i.e. multiplex families) with nIHH were recruited and screened for genes known or suspected to be strong candidates for nIHH. Results: Mutations were identified in five genes (GNRHR, TACR3, TAC3, KISS1R, and KISS1) in 77% of families with autosomal recessively inherited nIHH. GNRHR and TACR3 mutations were the most common two causative mutations occurring with about equal frequency. Conclusions: Mutations in these five genes account for about three quarters of the causative mutations in nIHH families with more than one affected individual. This frequency is significantly greater than the previously reported rates in all inclusive (familial plus sporadic) cohorts. GNRHR and TACR3 should be the first two genes to be screened for diagnostic purposes. Identification of causative mutations in the remaining families will shed light on the regulation of puberty.
نوع الوثيقة:	article in journal/newspaper
اللغة:	English
تدمد:	1308-5727 1308-5735
Relation:	JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://dx.doi.org/10.4274/Jcrpe.725; https://hdl.handle.net/20.500.12418/9381; 126; 121
DOI:	10.4274/Jcrpe.725
الاتاحة:	https://hdl.handle.net/20.500.12418/9381 https://doi.org/10.4274/Jcrpe.725
Rights:	info:eu-repo/semantics/openAccess
رقم الانضمام:	edsbas.962C12F6
قاعدة البيانات:	BASE

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الوصف
تدمد:	13085727 13085735
DOI:	10.4274/Jcrpe.725