Endocrine Abstracts

CPP results from premature reactivation of the hypothalamo–pituitary–gonadal axis and pulsatile GnRH secretion, with a hormonal pattern similar to that of normal puberty. Recent studies have implicated the activation of Kisspeptin and its receptor and the inactivation of MKRN3 genes in CPP. MKRN3 gene defects are currently an identified genetic cause of paternally transmitted familial CPP, but such defects do not underlie maternally transmitted CPP and are rarely inv...

Introduction: There are contradictory results concerning bone mineral density status in adult patients with congenital adrenal hyperplasia. To resolve this issue, we hypothesized that there could be a correlation between BMD and a total cumulative glucocorticoid dose from the diagnosis in early infancy to adulthood. We then conducted a retrospective in a referral centers for CAH. Thirty-eight adult patients (28 women, 10 men, aged 16–39 years) suffering from CAH and treat...

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), ...