Endocrine Abstracts

Introduction: Santé publique France develops a national epidemiological monitoring program to study health indicators related to endocrine disruptor exposure. Based on the weight of evidence, cryptorchidism was selected for this purpose. In this study, we aimed to analyze temporal, spatial and spatio-temporal trends of cryptorchidism during the period 2002–2014 in France, and explore and/or generate environmental hypotheses.Methods: We built a...

Background & aim: Autoimmune thyroid disease (AITD) is frequently accompanied by other organ-specific diseases. The aim of this study was to estimate the frequency of the association AITD-Biermer’s disease (pernicious anemia) by investigating the presence of intrinsic factor antibodies (IF-Ab) in the serum of patients with AITD.Methods: Sera from patients with biological signs of AITD (increased serum TSH levels associated to detectable thyroid ...

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%...

Anti-Mullerian Hormone (AMH) is a 140 kDa gonadal glycoprotein of the TGFβ family, with two subunits linked by two disulfide bridges. Since a first assay in 1990, three generations of assays occurred: the 1st and 2nd were manual assays. The 3rd was automated: Access AMH Kits (Beckman Coulter) and Elecsys AMH (Roche). We had the opportunity to compare two new analysers with the Elecsys AMH: Vidas (Biomérieux) and Lumipulse G (Fujirebio). The later are one-step sandwic...

Within the group of gonosomal aneuploidy, the 47,XXY Klinefelter syndrome is a well-known chromosomal anomaly with a clearly delineated phenotype. Since the 48,XXYY polysomy is rather rare and associated with hypogenitalism, it has often been considered as a variant of the Klinefelter syndrome. Nevertheless, several differences have been reported, in particular the greater severity and prevalence of mental retardation and psychiatric illness in patients with a 48,XXYY syndrome...

Aneurysmal bone cysts (ABCs) are rare pseudotumoral bone lesions with potential aggressive behavior due to the extensive destruction of surrounding bone. Besides surgery, denosumab has been investigated as a treatment for benign fibro-osseous lesions. As for ABCs, pediatric experience is limited, reporting mainly beneficial effects on lesions growth and associated pain. Some reports included well known side effects associated with denosumab, such as the rebound hypercalcemia a...

The loss of nychthemeral rhythm is a feature of endogenous hypercorticism that may be investigated by the assay of midnight salivary cortisol (serC0h) although often replaced by serum cortisol assay. However, manufacturers of cortisol immunoassays kits seldom provide reference values for this horary. We present here tentative reference values of serC0h with an automated imunoanalyzer (DXi800, Beckman Coulter).The population retrospe...

IntroductionThe European Registries for Rare Endocrine Conditions (EuRRECa) project was launched in February 2018 and aims to support the needs of the endocrine and bone community by facilitating the collaboration between patients, health care professionals and researchers across Europe and beyond. It is closely linked to the European Reference Networks on Rare Endocrine Conditions (Endo-ERN) and Rare Bone Diseases (ERN BOND) with its registry EuRR-Bone....

Background/Aim: X-linked hypophosphatemia (XLH) is a rare disease caused by PHEX mutation, leading to elevated FGF23, renal phosphate wasting, hypophosphatemia, insufficient 1,25(OH)2D synthesis. Clinically, it manifests with rickets including leg deformities, poor growth, dental abscesses, craniosynostosis, and hearing loss. Beyond conventional treatment (phosphate supplements + active vitamin D), burosumab is pathogenetic anti-FGF23 therapeutic approa...

Adeno‐associated virus (AAV) gene therapy reached the maturity and a liver-targeting approach is currently used as a replacement treatment for rare hepatic and muscular diseases. X-linked hypophosphatemia (XLH) is a rare disease associated with hyperfunction of fibroblast growth factor 23 (FGF23) in bone and characterized by severe skeletal deformities and short stature. The current medical therapies for XLH requires life-long repeated treatment presenting major limitati...