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...

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...

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...

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...

Background: Familial Glucocorticoid Deficiency is an autosomal recessive disorder characterised by ACTH resistance of the adrenal cortex, leading to isolated glucocorticoid deficiency. Causative genes include MC2R, its accessory protein MRAP and StAR which account for 50% of cases. Recently nicotinamide nucleotide transhydrogenase (NNT) has been associated with a further 10% of cases. NNT generates the high concentrations of NADPH in mitochondria necessary for detoxification o...

Premature ovarian failure (POF) encompasses a heterogeneous spectrum of conditions, with phenotypic variability among patients. The etiology of POF remains unknown in most cases. This led us to set up a French network on POF for the purpose of better characterizing POF patients and understanding the mechanisms involved in this pathology. Over the last 10 years, we have evaluated 360 women who were referred to our center with a diagnosis of POF, and performed a study of clinica...

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive diseases. Decreased production of cortisol leads to increased secretion of CRH and ACTH, resulting in overproduction of androgens and hyperplastic adrenals. 21-OH deficiency has thus been speculated to predispose for the formation of morphological adrenal abnormalities. However, studies are rare, the most relevant showing a high incidence of adrenal masses in 82%...

Classical forms of congenital adrenal hyperplasia (CAH) are generally diagnosed in neonates (salt wasting form) or in early childhood (pure virilizing form). Here, we report the case of a 39 years old man from Sri Lanka in whom a classical CAH has been diagnosed during the exploration of infertility with azoospermia, along with extremely low gonadotropins contrasting with a normal level of testosterone. Hormonal tests revealed high serum 17-hydroxyprogesterone levels (255 ng/m...

Context: The transition period between pediatric and adult medicine is associated with poor patient outcomes and an important number of patients lost to follow up. Intervention exist but the few published randomized trials do not allow to study long-term patient outcomes nor intervention sustainability in time. Objective. Describe the cohort of patients in adult care who benefit from a new transition program based on case management approach, its activity and follow-up outcome...