Endocrine Abstracts

Obesity and type 2 diabetes are expanding rapidly and become a wide world health issue. These metabolic diseases are tightly associated with an insulin resistance state. Among insulin target tissues, liver plays a central role in the regulation of glucose homeostasis.Insulin action is initiated by its binding to its receptors (IR) which, once activated, phosphorylate intracellular substrates and lead to the activation of transduction pathways implicating...

Introduction: Trisomy 21 or Down Syndrome (DS) patients have a predisposition for Congenital Hypothyroidism which can aggravate their mental status.Hypothesis: The presence of three copy of Dyrk1a gene, localized in chromosome 21 in Humans, is responsible for a thyroidal dysgenesis.Our aim is to understand the molecular mechanisms underlying this condition.Methods: The transgenic Dyrk1a (TgDyrk1a) mouse, our ...

Background: Previously, we identified a novel gene, BOREALIN/CDCA8 in congenital hypothyroidism. Patients with BOREALIN mutations had thyroid dysgenesis, from asymmetric lobes to athyreosis (Carré et al. Hum Mol Genet 2017). Borealin is a major component of the Chromosomal Passenger Complex, an essential regulator of mitosis. We demonstrated a new feature of BOREALIN: involvement in the adhesion and the migration of the thyrocytes.<...

Introduction: Paraganglioma type 4 is the second most common hereditary paraganglioma syndrome. It is due to a mutation in the succinate dehydrogenase B (SDHB) gene. Associated with high morbimortality for presenting high penetrance (77%) and debut at an early age with a high probability of malignancy (31–71%). In terms of follow-up, annual biochemical monitoring is recommended for mutation carriers. However, the affected gene should be taken into account, for example: t...

Hyperprolactinemia is the most common cause of hypogonadotropic anovulation in women. It is related to an alteration of pulsatile GnRH secretion. This gonadotropic deficiency has been proposed to result from direct suppression of prolactin (PRL) on GnRH release but its mechanism remains unknown. Because GnRH neurons do not express unequivocally the PRL receptor, and are stimulated by kisspeptin (Kp) neurons which do express PRL receptors, we hypothesized that GnRH deficiency i...