Endocrine Abstracts

Transition from pediatric to adult care is a challenging turning point for patients, physicians and health care system that need to be planned and adapted to each center. Endocrine conditions present some specific concerns at transition that need to be clarified to insure optimal care during adulthood. We had the opportunity to set up a network to evaluate transition process of patient with a chronic endocrine condition at the Department of Endocrinology and Reproductive Medic...

Prolactin was discovered 80 years ago. It is currently viewed by clinical endocrinologists as a hormone of pituitary origin, whose production is negatively controlled by dopamine, whose biological actions relate exclusively to lactation and reproductive functions, for which any genetic disorder is yet to be identified, and whose unique associated pathology is hyperprolactinemia, which is efficiently cured using dopamine agonists. Although there is no debate about the relevance...

Objective: To evaluate the effect of a new care organisation on multiple outcomes of transition success and its cost-effectiveness in patients with any endocrine or metabolic disease diagnosed during childhood and transferred to adult care.Design: Non-randomized controlled trial in a French University Hospital.Methods: Patients transferred to adult care during the control period (04/2014-08/2016) and the intervention period (09/201...

Objective: The diagnosis of premature ovarian insufficiency (POI) is a traumatic event for many patients that involves poor fertility prognosis. After such diagnosis spontaneous pregnancies are rare. The alternatives for building a family are oocyte donation, embryo donation and adoption. However, we have few information on how many women with POI finally built a family after the diagnosis and which alternative they chose.Design: We performed a cross-sec...

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, ...

Objective: Premature ovarian failure (POF) is not an early menopause and intermittent ovarian function can be spontaneously observed in POF patients. We sought to characterize these patients and determine which factors were predictors of intermittent ovarian function.Patients and methods: Among 391 patients with idiopathic POF followed from 1997 in our department, 67 (17.1%) patients (Group 1) had POF fluctuating criteria: FSH <15 IU/l, resumed spont...

17β-hydroxysteroid dehydrogenase-3 (17βHSD3) deficiency is an autosomal recessive form of male pseudohermaphroditism due to impaired testicular conversion of androstenedione to testosterone. 46,XY homozygotes or compound heterozygotes for mutations of the HSD17B3 gene have testes and normally developed Wolffian duct derivatives, but they present with undervirilization of the external genitalia, which are often female. About twenty different mutations of the 17βH...

Classical forms of 21 hydroxylase defisciency are generally observed during bith life and present as loss of salt or rapid puberty in young boy. We report a rare case of classical 21 hydroxylase defisciency presented as low gonadotrophines contrasted with normal level of testosterone. This was related to a 39 years old patient consulted for male infertility. Clinical exam was normal, including a normal level of blood tension. Liquid chromatography–tandem mass spectrometry...

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=...