hrp0092t8 | Top 20 Poster | ESPE2019

Bone Mineral Density (BMD) in Women with Turner Syndrome (TS) from the DSD-LIFE Cohort, an Epidemiological Study

Pienkowski Catherine , El Allali Yasmine , Cartault Audrey , Ernoult Perrine , Grunenwald Solange , Reish Nicole , Claahsen-Van Hedi , Salles Jean-Pierre

Aim: The objective of the study was to determine bone mineralisation density in Turner syndrome (TS) from DSD life cohort, and to analyse the trabecular (lumbar spine = LS) and cortical bone (femoral neck = FN) mineralisation.Materials and Methods: This study was part of the DSD-LIFE study, a cross-sectional clinical outcome study of the BMD of TS adult patients from paediatric cohorts. BMD of the LS and FN were ...

hrp0098p1-96 | Sex Endocrinology and Gonads 1 | ESPE2024

Study of the ovarian function and the gyneco-obstetrical profile of patients carrying a pathogenic variant of the HNF1B gene

Cartault Audrey , Paret Camille , Ernoult Perrine , Garczynski Charlotte , Costa Sabrina Da , Chakhtoura Zeina , Viaud Magali , MercierMilesi Celine , Pienkowski Catherine

Introduction: HNF1B belongs to the organogenesis gene family. HNF1B is a rare autosomal disorder affecting early embryonic development of the urogenital tract, liver, pancreas and parathyroids. It is responsible for kidney damage and MODY type diabetes. It affects the female genital tract with a prevalence of uterine malformations of about 20%. To date, no study has evaluated the ovarian function or the gyneco-obstetrical profile of these patients.<p class...