Functional Characteristics of Novel FGFR1 Mutations in Patients with Isolated Gonadotropin-Releasing Hormone Deficiency
Conclusions This study identified seven rare sequence variants in
FGFR1 in patients with KS and nIHH. Probands with an FGFR1
mutations displayed a wide phenotypic spectrum ranging from KS to anosmia. A
prepubertal male with anosmia should be followed up to assess pubertal
development because they can manifest hypogonadotropic hypogonadism after
puberty. These results expand the phenotypic spectrum of FGFR1 mutations
and suggest a broader biologic role of FGFR1 in reproduction. [...] © Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents | Abstract | Full text
Source: Experimental and Clinical Endocrinology and Diabetes - Category: Endocrinology Authors: Choi, Jin-Ho Oh, Arum Lee, Yena Kim, Gu-Hwan Yoo, Han-Wook Tags: Article Source Type: research
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