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).
01 - 03 Oct 2015
European Society for Paediatric Endocrinology