Endocrine Abstracts

Pubertal onset results from reactivation of the gonadotropic axis by neuroendocrine mechanisms which remain to be defined. Human genetics is one of the approaches to characterize disease mechanisms and therefore novel physiological system. Two different type of phenotype due to abnormal timing of the pubertal onset are described: advance of the pubertal onset also call central precocious puberty and delayed or absence of puberty. The latter is due to gonadotropic deficiency re...

Background: Congenital hypogonadotropic hypogonadism (CHH) is characterized by absent puberty and infertility due to a lack of GnRH secretion/action. In addition, patients exhibit variable non-reproductive phenotypes such as anosmia, cleft palate, synkinesia, and others. As many as 10% of CHH patients harbor mutations in FGFR1; this group is enriched for skeletal anomalies. We report here a novel CHH-associated skeletal phenotype, split hand/foot malformation (SHFM), ...