ESPE Abstracts (2015) 84 P-2-541

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

L. Damla Kotana, Eda Mengena, Fatih Gurbuza, Elif Ozsub, Selma Tuncc, Yilmaz Kord, Esra P. Cakire, Ayhan Abacif, Korcan Demirf, Teoman Akcayg, Birgul Kirelh, Sibel T. Kiniki, Samim Ozenj, Ahmet Ucakturkk, Aysun Bidecil, Erdem Durmazm, Kursad Unluhizarcin, Ihsan Turana, Bilgin Yuksela & A. Kemal Topaloglua


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).

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