Endocrine Abstracts

Context: CHH/KS is a major cause of pubertal and bone maturation delay due to sex steroids deficiency. FH and TH have not been evaluated in large series of CHH/KS patients. Analysis of auxometric measures in patients’ siblings has never been performed.Patients and methods: We selected 216 (164/52 men/women; 112/104 KS/normosmic CHH) with available auxometric measures. Sibling stature was available in a subgroup of 162 patients. Difference between th...

Disorders of sex development (DSD) include a conglomerate of rare conditions with discrepancy of the chromosomal, gonadal or phenotypic sex. Since the last 2 decades the genetic causes and the pathogenesis have been identified in many patients with DSD. Multidisciplinary clinical care as decision on the sex of rearing, genital surgery, hormone therapies and psychological support has a life-long impact on the affected persons. However, previous clinical outcome studies of DSD w...

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...

BackgroundPrenatal dexamethasone treatment (Pdex) has been used since the 1980s to prevent virilization in female offspring suspected to have congenital adrenal hyperplasia (CAH). However, due to lack of strong evidence for its best practice as well as limited data regarding longterm adverse effects, use of dex is highly controversial. This study reveals the current medical practice regarding Pdex in female fetuses at risk of CAH due to 21hydroxylase def...