Endocrine Abstracts

To clarify the risks associated with subclinical thyroid dysfunction, we built in 2008 the Thyroid Studies Collaboration and collected into individual participant data from 70 000 participants from 17 prospective cohorts. We first clarified the risks of coronary heart disease, heart failure and mortality and assessed the contribution of autoimmunity on the risks of cardiovascular diseases. We also assessed the risk of stroke associated with subclinical thyroid dysfunction. The...

Atypical Genital Development (AGD) is defined as congenital conditions within which the development of chromosomal, gonadal and anatomic sex is atypical. Hypospadias represents one of the aspects of the spectrum of AGD and its less severe for in case of isolated hypospadias. Despite the Consensus Meeting in Chicago in 2005 and an overall accepted classification of ADG, numerous questions remain to be solved. The etiology of AGD and hypospadias is still unclear at the crossroad...

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Pubertal onset results from reactivation of the gonadotropic axis by neuroendocrine mechanisms which remain to be defined. Human genetics is one of the approaches to characterize disease mechanisms and therefore novel physiological system. Two different type of phenotype due to abnormal timing of the pubertal onset are described: advance of the pubertal onset also call central precocious puberty and delayed or absence of puberty. The latter is due to gonadotropic deficiency re...

Purpose: To evaluate if patients with low- or intermediate-risk differentiated thyroid cancer (DTC) can be discharged to primary care.Material and Methods: The clinical records and evolution of 346 patients with DTC who had undergone surgery between 1995 and 2020 with a follow-up after a mean of 7.6 ± 6.1 years were retrospectively reviewed. All had a low or intermediate risk of recurrence as defined under the 2015 ATA risk stratification system and...

The measurement of 25OH vitamin D has tremendously evolved since the first competitive protein-binding assay. Amongst the different techniques that are now routinely employed, ELISA still represents a common tool to quantify the level of 25OH Vitamin D in individuals. Several 25OH Vitamin D ELISA assays have been developed and commercialized in the last 3 years. They all differ by the antibody used and by the technology that is applied to release 25OH Vitamin D from its bindin...

Background: Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited tumour syndrome with an important phenotypic variability. Genetic testing for VHL is simple and accurate.Objective: In this study, we investigated the relationships between genotype and phenotype in a series of patients with different VHL gene mutations.Method: This was a retrospective analysis of the clinical and molecular characteristics of 15 VHL pati...

A 27-year-old woman with familial exudative vitreoretinopathy (FEVR) experienced multiple childhood fractures, including wrist (aged 7y), hip (aged 10y) and numerous vertebrae. She had low bone mineral density (BMD) (Z scores < -2.5 at multiple sites aged 9; persistently low BMD as an adult) and was short (height below 1st centile). Other features included an unusual facies and mild intellectual impairment. Her mother also had FEVR, dental hypoplasia, mild intellectual imp...

Patients affected by pseudohypoparathyroidism type 1b (PHP-1b) develop resistance to PTH leading to hypocalcemia and hyperphosphoremia, which is often associated with resistance to TSH. PHP-Ib is associated with methylation changes at one or several differentially methylated regions (DMRs) within the GNAS complex locus, located at 20q13.2–13.3. This locus gives rise to several different transcripts (NESP55, XL, A/B), with varying patterns of expression depending on the pa...

Introduction: Juxtaglomerular cell tumour (JCT) or Reninoma, is a rare cause of curable secondary hypertension, usually presented as a small renal tumour and treated by tumorectomy or partial nephrectomy (PN). Minimally invasive treatment such as percutaneous radiofrequency ablation (PRFA) has gained popularity over the last decade to treat small tumors. We report the case of a woman with secondary hypertension due to JCT, successfully treated with PRFA....