Publication:
Distribution of Gene Mutations Associated with Familial Normosmic Idiopathic Hypogonadotropic Hypogonadism

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dc.contributor.authorKOTAN, LEMAN DAMLA
dc.contributor.authorMengen, Eda
dc.contributor.authorGÜRBÜZ, FATİH
dc.contributor.authorBerberoglu, Merih
dc.contributor.authorDokmetas, Sebila
dc.contributor.authorKilicli, Mehmet Fatih
dc.contributor.authorGUVEN, Ayla
dc.contributor.authorKirel, Birgul
dc.contributor.authorSaka, Nurcin
dc.contributor.authorPoyrazoglu, Sukran
dc.contributor.authorCesur, YAŞAR
dc.contributor.authorDogan, Murat
dc.contributor.authorOZEN, Samim
dc.contributor.authorOZBEK, Mehmet Nuri
dc.contributor.authorDEMIRBILEK, Huseyin
dc.contributor.authorKekil, M. Burcu
dc.contributor.authorTemiz, Fatih
dc.contributor.authorMungan, Neslihan Onenli
dc.contributor.authorYuksel, Bilgin
dc.contributor.authorTopaloglu, Ali Kemal
dc.contributor.institutionauthorCESUR, YAŞAR
dc.date.accessioned2020-10-30T00:37:46Z
dc.date.available2020-10-30T00:37:46Z
dc.date.issued2012-01-01T00:00:00Z
dc.description.abstractObjective: 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.
dc.identifier.citationGÜRBÜZ F., KOTAN L. D. , Mengen E., Siklar Z., Berberoglu M., Dokmetas S., Kilicli M. F. , GUVEN A., Kirel B., Saka N., et al., -Distribution of Gene Mutations Associated with Familial Normosmic Idiopathic Hypogonadotropic Hypogonadism-, JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, cilt.4, ss.121-126, 2012
dc.identifier.doi10.4274/jcrpe.725
dc.identifier.pubmed
dc.identifier.scopus84866435612
dc.identifier.urihttp://hdl.handle.net/20.500.12645/27291
dc.identifier.wosWOS:000209012700002
dc.subjectMutationen
dc.subjectNormosmic idiopathic hypogonadotropic hypogonadismen
dc.subjectGeneen
dc.titleDistribution of Gene Mutations Associated with Familial Normosmic Idiopathic Hypogonadotropic Hypogonadism
dc.typeArticle
dspace.entity.typePublication
local.avesis.idfffb6ad3-18fb-4762-8044-060660b31bf3
local.publication.isinternational1
relation.isAuthorOfPublicationddd881a5-c7cb-41e5-b4e1-0693a98a0d29
relation.isAuthorOfPublication.latestForDiscoveryddd881a5-c7cb-41e5-b4e1-0693a98a0d29
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