Endocrine Abstracts

Adiponectin is a protein hormone mainly produced by adipocytes. It plays an essential role in the regulation of lipid and carbohydrate metabolisms. Adiponectin mediates its effects through mainly two receptors named AdipoR1 and AdipoR2. Some evidence in rodent and domestic animals suggests that adiponectin could also regulate female fertility and more particularly ovarian functions. However, its role in human ovary has never been investigated. The objectives of the present stu...

Background: Sex chromosome mosaic aneuploidy 46,XX/47,XXy (mKS-XX) is a very rare syndrome, with only twenty-one cases previously reported. No patients’ series with mKS-XX and no comparative studies between mKS-XX and the common homogeneous Klinefelter syndrome (KS) have so far been described.Aims: To describe the clinical, biological and socio-professional characteristics of the first series of previously unpublished patients with mKS-XX. To find p...

Introduction: Paradoxical increase of GH following oral glucose load has been described in ~30% of patients with acromegaly and has been related to the ectopic expression of the glucose-dependent insulinotropic polypeptide (GIP) receptor (GIPR) in somatotropinomas. Recently, we identified germline pathogenic variants of lysine demethylase 1A (KDM1A) in patients with GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing’s syndrome. Patients...

Context: Primary bilateral macronodular adrenal hyperplasia (PBMAH) with glucose-dependent insulinotropic polypeptide (GIP)-dependent Cushing’s syndrome is caused by ectopic expression of GIP receptor in the adrenal tissue. The bilateral nature of this adrenal disease suggests germline genetic predisposition. We aimed to identify the molecular driver event responsible for ectopic GIP receptor expression in PBMAH.Methods: We conducted an internationa...