Endocrine Abstracts

Introduction: Turner syndrome (TS) is a chromosomal aberration with a total or partial loss of one of the two X chromosomes, occurring in 1/2000–1/2500 newborn girls. Primary ovarian insufficiency is a classic feature of this syndrome. Therefore, fertility preservation is proposed to girls or adolescents with TS. So far, no pregnancy has been reported in TS women after ovarian or oocyte freezing. The aim of our study was to evaluate the prevalence and the outcome of spont...

Human 3β-hydroxysteroid dehydrogenase deficiency is a rare form of congenital adrenal hyperplasia resulting from HSD3B2 gene mutations, leading to steroidogenesis impairment in both adrenals and gonads. The transition period is important for a successful adult fertility, but information about fertility is lacking in this rare disease.The patient presented with salt wasting at birth in Trousseau Hospital. Consanguinity was present, since the parents ...

Mortality is 3 fold higher in patients with Turner syndrome (TS) than in the general population, primarily due to cardiovascular complications. Recent clinical guidelines (Gravholt et al. EJE 2017) underlined the need of a lifelong cardiovascular follow-up. However, prospective studies evaluating the aortic natural history in clinical practice are scarce. We performed a monocentric longitudinal study including 204 adult TS patients, between 2005 and 2018. Inclusion criteria we...

Turner syndrome (TS) is a rare condition with a high frequency of aortic dilatation (AD) and a risk of aortic dissection. Our objective was to evaluate the characteristics of the aorta in patients with TS.Methods: Analyses of aortic walls were obtained during prophylactic aortic replacement. Histological description and measurement of a standardized media degenerative score (MDC) were performed. Cytogenetic analysis quantified the level of monosomy X in ...

NC-CAH is diagnosed in pubertal/post-pubertal women because of androgen excess however, the risk of potential adrenal insufficiency is not known, and indication of systematic glucocorticoid replacement therapy is controversial.Design: Prospective controlled clinical study in a tertiary referral center. 20 women with NC-CAH (serum stimulated 17-OHP >10 ng/ml/250 μg, Synacthen) comparatively to matched healthy women, were included if they had not ...

Background: Radioactive iodine therapy (RAI) is a classical therapeutic approach in patients with differentiated thyroid carcinoma (DCT). Few data are currently available on RAI’s potential impacts on testicular function.Design: A longitudinal prospective multi-center study (PHRC N°P040419) included male patients before a single radioiodine dose of 3.7 GBq of I 131 (V0), at 3 months (V3) and 13 months (V13) post treatment.<p clas...

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...