ESPE Abstracts

Introduction: Patients with Turner syndrome (TS) diagnosed beyond the age of 12 years present a real challenge for therapeutic management. Indeed, compromises must be made between the progressive induction of puberty and an efficient treatment with growth hormone to have the best possible results.Patients and methods: Our study concerns 18 cases of patients followed for ST in endocrinology consultation (CHU Constantine-A...

Introduction: Turner Syndrom (TS) is one of the most common chromosomic abnormalities. It associates almost constantly an ovarian dysgenesis and a growth delay (GD). The GD is often secondary to a peripheral resistance to the growth hormone (GH). The GH deficiency (GHD) is a rare cause of growth delay, the association between these two condition is even rarer.Patients and methods: We describe here the cases of 4 patients...

The majority of individuals with disorders/differences of sex development (DSD) do not have a genetic etiology. However, recently new genes causing DSD have been reported and using the unbiased approach of whole exome sequencing (WES) the diagnostic yield should be improving. Here, we performed WES on a large cohort of 125 individuals all of Algerian origin, who presented with a wide range of DSD phenotypes. Parental consanguinity was reported in 36% of individuals. The geneti...