ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume : 4 Issue : 3 Year : 2024
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Turkish Society for Pediatric Endocrinology and Diabetes
Distribution of Gene Mutations Associated with Familial Normosmic Idiopathic Hypogonadotropic Hypogonadism [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2012; 4(3): 121-126 | DOI: 10.4274/Jcrpe.725

Distribution of Gene Mutations Associated with Familial Normosmic Idiopathic Hypogonadotropic Hypogonadism

Fatih Gürbüz1, L. Damla Kotan2, Eda Mengen1, Zeynep Şıklar3, Merih Berberoğlu3, Sebila Dökmetaş4, Mehmet Fatih Kılıçlı4, Ayla Güven5, Birgül Kirel6, Nurçin Saka7, Şükran Poyrazoğlu7, Yaşar Cesur8, Murat Doğan8, Samim Özen9, Mehmet Nuri Özbek10, Hüseyin Demirbilek10, M. Burcu Kekil2, Fatih Temiz1, Neslihan Önenli Mungan1, Bilgin Yüksel1, Ali Kemal Topaloğlu2
1Çukurova University Faculty Of Medicine, Department Of Pediatric Endocrinology, Adana, Turkey
2Çukurova University Institute Of Sciences, Department Of Biotechnology, Adana, Turkey
3Ankara University Faculty Of Medicine, Department Of Pediatric Endocrinology, Ankara, Turkey
4Cumhuriyet University Faculty Of Medicine, Department Of Endocrinology, Sivas, Turkey
5Göztepe Educational And Research Hospital, Department Of Pediatric Endocrinology, İstanbul, Turkey
6Osmangazi University Faculty Of Medicine, Department Of Pediatric Endocrinology, Eskişehir, Turkey
7İstanbul University Faculty Of Medicine, Department Of Pediatric Endocrinology, İstanbul, Turkey
8Yüzüncü Yıl University Faculty Of Medicine, Department Of Pediatric Endocrinology, Van, Turkey
9Mersin Children’S Hospital, Department Of Pediatric Endocrinology, Mersin, Turkey
10Diyarbakır Children’S Hospital, Department Of Pediatric Endocrinology, Diyarbakır, Turkey

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.

Keywords: Normosmic idiopathic hypogonadotropic hypogonadism,gene,mutation

Fatih Gürbüz, L. Damla Kotan, Eda Mengen, Zeynep Şıklar, Merih Berberoğlu, Sebila Dökmetaş, Mehmet Fatih Kılıçlı, Ayla Güven, Birgül Kirel, Nurçin Saka, Şükran Poyrazoğlu, Yaşar Cesur, Murat Doğan, Samim Özen, Mehmet Nuri Özbek, Hüseyin Demirbilek, M. Burcu Kekil, Fatih Temiz, Neslihan Önenli Mungan, Bilgin Yüksel, Ali Kemal Topaloğlu. Distribution of Gene Mutations Associated with Familial Normosmic Idiopathic Hypogonadotropic Hypogonadism. J Clin Res Pediatr Endocrinol. 2012; 4(3): 121-126
Manuscript Language: English
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