Endocrine Abstracts

Premature ovarian insufficiency (POI) is a disorder which affects approximately 1% of women under 40 years of age. Besides infertility and estrogen deficiency altering the quality of life, the impact of this disease on the long-term health status of these women, especially bone status, has received little attention. We therefore designed a cross-sectional study of patients with POI, 5–10 years after a first evaluation in our department. We evaluated their anthropometric, ...

Context: Early premature ovarian failure (ePOF) defined by cessation of ovarian function before age 18 is a rare condition. The link between puberty progression and POF hasn’t been explored in details.Aim of study: To describe pubertal development and clinical practices of women with ePOF in a referral center for RME within the first 2 years follow-up.Description method/design: A mixed retrospective and prospective study was p...

Premature ovarian insufficiency (POI) is a disorder which affects ~1% of women under 40 years of age. Genetic component has been suggested in the majority of cases of nonsyndromic forms, and recently mutations of NR5A1 have been reported to be associated with POI. In order to evaluate the frequency of NR5A1 mutations in POI together with the functional characterisation of the existing variants, we conducted a genetic study on a large cohort of POI patients.<p class=...

Objectives: To investigate how CO-GHD patients are taken care of in paediatrics, during the transition period and in long-term adult follow-up.Methods: Retrospective cohort study of CO-GHD patients, transferred in our adult department between 1994 and 2011. Paediatric charts were available for all patients. For adult follow-up, parameters of metabolic, bone and cardiovascular status were recorded at several hospitalisations: the first one (V0) and at 1 (...

The identification of naturally occurring genetic mutations of the FSH receptor has led to a better understanding of the role of FSH in folliculogenesis and has allowed to identify the cause of several syndroms. Inactivating mutations of the follicle stimulating hormone (FSH) receptor have been described in rare cases of premature ovarian failure (POF). We have studied a new patient presenting a complete POF phenotype, with high plasma FSH levels, very low estrogen and inhibin...

Context: Craniopharyngiomas are often associated with an unfavorable prognosis but data on their long-term consequences are sparse.Objective: To identify markers of recurrence and factors associated with compromised social rehabilitation and altered quality of life (QoL) in a large cohort of patients with either childhood onset (CO) or adult onset (AO) craniopharyngioma.Methods: Retrospective analysis was performed for 171 patients...