Endocrine Abstracts

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 (...

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%...

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...

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...

In the human adrenal gland, serotonin (5-HT), released by subcapsular mast cells stimulates corticosteroid secretion through activation of type 4 serotonin receptors (5-HT4R) positively coupled to cAMP/proteine kinase A (PKA) signaling pathway and calcium influx. The 5-HT4R is principally expressed in zona glomerulosa cells explaining why 5-HT strongly stimulates aldosterone production but only exerts a modest stimulatory action on cortisol. Interestingly, in primary pigmented...

In human adrenals, serotonin (5-HT), released by subcapsular mast cells, increases aldosterone secretion through activation of type 4 serotonin receptors (5-HT4R) but only exerts a modest control on cortisol production. Interestingly, illicit synthesis of 5-HT in adrenocortical cells as well as overexpression of the 5-HT4R and ectopic expression of the type 7 receptor (5-HT7R) have been observed in bilateral macronodular adrenal hyperplasia res...

Testicular adrenal rest tumors (TART), described in patients with classic congenital adrenal hyperplasia (CAH) secondary to 21-hydroxylase deficiency, are responsible for Leydig cell failure and impaired spermatogenesis. These tumors, often unresponsive to intensified glucocorticoid therapy and surgical resection, may lead to infertility or even sterility. Here, we studied the effects of long term treatment with mitotane (Lysodren), a specific adrenolytic agent, on TART in 4 C...