ESPE2015 Poster Category 2 Puberty (30 abstracts)
Distribution of Mutations in Genes Known to be Associated with Familial Idiopathic Hypogonadotropic Hypogonadism in a Large Cohort
L. Damla Kotan a , Eda Mengen a , Fatih Gurbuz a , Elif Ozsu b , Selma Tunc c , Yilmaz Kor d , Esra P. Cakir e , Ayhan Abaci f , Korcan Demir f , Teoman Akcay g , Birgul Kirel h , Sibel T. Kinik i , Samim Ozen j , Ahmet Ucakturk k , Aysun Bideci l , Erdem Durmaz m , Kursad Unluhizarci n , Ihsan Turan a , Bilgin Yuksel a & A. Kemal Topaloglu a
aDivision of Pediatric Endocrinology, Cukurova University, Faculty of Medicine, Adana, Turkey; bSamsun Maternity and Childrens Hospital, Samsun, Turkey; cBehcet Uz Children’s Hospital, Izmir, Turkey; dAdana Numune Training Hospital, Adana, Turkey; eMersin Maternity and Children’s Hospital, Mersin, Turkey; fDivision of Pediatric Endocrinology, Dokuzeylul University, Faculty of Medicine, Izmir, Turkey; gBakirkoy Sadi Konuk Training Hospital, Izmir, Turkey; hFaculty of Medicine, Division of Pediatric Endocrinology, Osmangazi University, Eskisehir, Turkey; iFaculty of Medicine, Division of Pediatric Endocrinology, Baskent University, Ankara, Turkey; jFaculty of Medicine, Division of Pediatric Endocrinology, Ege University, Izmir, Turkey; kAnkara Pediatric Hematology Oncology Education and Traning Hospital, Ankara, Turkey; lFaculty of Medicine, Division of Pediatric Endocrinology, Gazi University, Ankara, Turkey; mFaculty of Medicine, Division of Pediatric Endocrinology, Sifa University, Izmir, Turkey; nFaculty of Medicine, Division of Endocrinology, Erciyes University, Kayseri, Turkey
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 affected individual (i.e. multiplex families) with IHH were recruited and screened with Sanger sequencing as a first step of the larger study for genes known to be associated with IHH.
Results: Mutations were identified in seven genes in 35 families. Number of occurrence per gene is given in parenthesis in decreasing order: GNRHR (12), TACR3 (11), KISS1R (5), FGFR1 (3), GNRH1 (2), TAC3 (1), and KISS1 (1).
Conclusion: Mutations in two genes (i.e. GNRHR and TACR3) occurred in two third of the families, thus these two genes should be prioritized for diagnostic studies in familial IHH.
Funding information: This work was supported by the TUBITAK (grant number 113S962).
Article tools
My recent searches
My recently viewed abstracts
Authors
ESPE Abstracts
© Bioscientifica 2024 |
Privacy policy |
Cookie settings
BiosciAbstracts
Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.
Find out more