Endocrine Abstracts

Most adrenal incidentalomas are benign and can be divided into nonfunctioning adrenal tumors (NFAT) and tumors with mild autonomous cortisol secretion (MACS). Several studies suggest that MACS may result in an increased risk for mortality and cardiometabolic disease. The cardiometabolic risk in MACS is possibly related to the increased frequency of cardiovascular risk factors such as diabetes mellitus (DM) and hypertension (HT) induced by cortisol excess. This is confirmed by ...

Background: As of December 2019, the COVID-19 pandemic has spread rapidly, therefore Governments from all over the world promoted a strategy of social confinement through a general lockdown in order to contain it. During the months following its introduction, many studies reported a significant increase in the incidence of idiopathic central precocious puberty (CPP) throughout several countries, especially in girls.Purpose: The aim of our study was to co...

Introduction: Cells with stem-like properties have been reported in benign and malignant thyroid diseases, and can be propagated by culturing them as non-adherent spheres.Design: Aim of the present study was to widely characterize the stem-like cells in tumor and normal thyroid tissues and in the corresponding in vitro-cultured thyrospheres, and to investigate in vivo the proangiogenic potential of thyrospheres in a zebrafish model....

ACTH resistance syndromes (ARS) are rare, severe and heterogeneous diseases that include either familial glucocorticoid deficiency (FDG) or Allgrove syndrome (AS). FDG is a rare autosomal recessive disorder resulting from mutation in genes encoding either the ACTH-receptor (ACTHR) in FDG1, or its accessory protein MRAP, in FDG2. AS is characterized by adrenal insufficiency due to ACTH resistance, alacrimia, and achalasia secondary to mutations in the AAAS gene, which ...

Background: Pituitary tumors are mostly sporadic, but in less than 5% of cases they can be associated to genetic syndromes, so harbouring germline mutations. Familial pituitary tumors are often more aggressive, so it’s important to detect them, for both a better early diagnosis and genetic counselling. Before the development of Next-Generation Sequencing (NGS), Sanger sequencing was the most widely used method of DNA sequencing. Therefore, DNA samples were analysed follo...

Introduction: Klinefelter syndrome (KS) is generally characterized by late adolescence/young adulthood onset of primary hypergonadotropic hypogonadism. Fourteen cases have been previously reported on apparently unexplained isolated hypogonadotropic hypogonadism (IHH) in KS. Gonadotropins defect was variably associated with anosmia or other pituitary hormones deficiencies, but no cause could be clearly identified to explain the central defect. We describe the clinical and genet...

ICH is a rare disease characterized by a complex pathogenesis, but with a strong genetic component. ICH may be associated to several other morphogenetic or inborn defects, such as the osmic defects that identify the Kallmann syndrome (KS). The description of several pedigrees including relatives affected either with isolated osmic defects or KS or normoosmic ICH (nICH) justifies the emerging idea of ICH as a complex genetic disease characterized by variable expressivity and pe...

ICH is a rare and heterogeneous condition due to defects in the onthogenesis, migration and action of GnRH secreting neurons. Recent publications indicate that ICH, though characterized by a strong genetic component, is a disease of multifactorial origin. Indeed, digenic and oligogenic defects have been described as a possible pathogenic explanation for this disease. Among the cohort of 315 ICH patients we identified 3 KS and 7 nICH patients (7 males, 3 females) with a biallel...

Since the first identification of DUOX2 as an actor in the pathogenesis of congenital hypothyroidism (CH), several mutations have been associated with transient or permanent CH, with a high intra- and interfamilial phenotypic variability. In the present study, we report clinical and molecular studies of 7 unrelated children and 2 couple of siblings affected with CH and partial iodide organification defect (PIOD).We identified nine novel and five previous...

Introduction: Hypogonadism occurs in myotonic dystrophy (DM) type 1 and 2, a multisystemic autosomal dominant disorder with insulin resistance and visceral obesity. DM patients provide a model to investigate the impact of metabolic alterations on hypogonadism.Methods: We assessed Leydig and Sertoli cell functions and metabolic features in 32 DM1 (44+11 years),13 DM2 patients (54+9 years) and 32 age and BMI-matched controls.Results:...