Endocrine Abstracts

Marshall-Smith syndrome (MSS) is a congenital disorder characterised by developmental delay, short stature, respiratory difficulties, distinctive facial features, skeletal abnormalities (such as kyphoscoliosis, dysostosis and osteopenia) and delayed neural development, and is due to heterozygous mutations that are clustered in exons 6–10 of the transcription factor nuclear factor I/X (NFIX) gene. These frameshift and splice-site NFIX variants result in t...

Background: Cadmium (Cd) is considered as a human carcinogen. A potential intermediate mechanism could be hormone-related by disturbing steroidogenesis in gonads and adrenal glands. We tested whether urinary Cd excretion, as a marker of long-term exposure, is associated with the urinary steroid profile in the general adult population.Methods and Findings: The Swiss Kidney Project on Genes in Hypertension (SKIPOGH) is a multicentric family-based populatio...

Endocr Relat Cancer August 1, 2015 22 481–504. DOI: 10.1530/ERC-14-0546...

Introduction: Adequate thyroid hormone availability during early life is crucial for normal child growth and development. Fetal growth in utero heavily depends on angiogenesis. Placental growth factor (PlGF) is a proangiogenic factor sharing high homology with vascular endothelial growth factor (VEGF) whereas soluble FMS-like tyrosine kinase-1 (sFlt1) is a potent antagonist of VEGF and PlGF signaling. Since the thyroid is a highly vascularized organ, we hypothesized t...

It is now well demonstrated that, in the human adrenal gland, aldosterone and cortisol productions are stimulated by autocrine/paracrine factors, like serotonin (5-HT) and arginine vasopressin (AVP). Several data indicate that these signals may also be involved in the regulation of corticosteroidogenesis in adrenocortical hyperplasias and tumors. 5-HT is detected in clusters of steroidogenic cells in aldosterone-producing adrenocortical adenomas (APAs), and in both ACTH-indepe...

Background: Adrenal venous sampling (AVS) is considered the gold standard for lateralisation of aldosterone production in patients with primary aldosteronism (PA). However, in some patients AVS is not technically successful and management may depend on radiological findings.Aim: To determine 1) the success rate of AVS and 2) the outcomes after surgery related to the lateralisation modality.Method: 156 patients were included who pre...

IntroductionRecently, cross-sectional studies report associations between long-term glucocorticoid levels in scalp hair (HairGC) and obesity. However, there is a wide variation in studied outcomes and associations, possibly caused by differences in population characteristics, e.g. age, sex, dispersion of adiposity, and used laboratory methods. The aim of this systematic review and meta-analysis was to investigate the relation between HairGC and anthropom...

Loss of gonadotropin-releasing hormone (GnRH) and cognitive deficits have recently been demonstrated by our group in conditions including Down syndrome and Alzhiemer’s disease. In some patients with COVID-19, olfactory and cognitive alterations persist, and persistent hypotestosteronemia in SARS-CoV-2-infected men could be a consequence of deficient GnRH. To understand whether neuroinvasion of GnRH system by SARS-CoV-2 could explain some post-COVID symptoms and thus resul...

Ken K Y Ho, University of New South Wales, Sydney, Australia AbstractKen Ho is a professor of Medicine at the University of New South Wales and is the Head, Pituitary Research Unit, Garvan Institute of Medical Research and Chairman, Department of Endocrinology, St. Vincent's Hospital, Sydney.He graduated in medicine at the University of Sydney in 1975, undertook research studies towards a Doctora...

Background: Few studies to date have attempted to measure serum anti-Müllerian hormone (AMH) levels in adult men, and solid references ranges have not yet been defined on a large cohort.Objective: In this study, we aimed to first establish the reference ranges for serum AMH and AMH-to-total testosterone ratio (AMH/tT) in adult males. Secondly, we investigated the relationship between serum AMH and both reproductive hormones and semen parameters....