Endocrine Abstracts

Sarcoïdosis is a relatively frequent systemic disease of unknown origin. Prevalence is about 4.7–64 in 100 000. We report the case of a 53-year-old woman followed in our institution since 2007 for a thyroid carcinoma. In 2010, she was diagnosed refractory thyroid carcinoma because of a high thyroglobulin assay (477 μg/l) without uptake on post-therapeutic (131I) whole body scan. Thereafter, the story is marked by the appearance in 2011 of multiple cer...

Introduction: Turner syndrome is well known, but prognosis for 45,X/46,XX mosaicism under 30% of aneuploidy has not been established. We realised a retrospective study among women aged 21–43 years, to evaluate differences in clinical features and biological parameters between patients who had sex chromosome mosaicism diagnosed incidentally and controls women.Material and methods: Among infertile population, 71 women with sex chromosome mosaicism (45...

Development in autologous bone marrrow transplantation (auto-BMT) has improved survival, but new endocrine complications now emerge. If primary thyroid and gonadal deficiencies are documented in medical literature, pituitary deficiencies are less well-known, especially in adults. The aim of the study was to investigate pituitary function in patients who survived at least one year after transplantation for malignant haematologic disorders by a prospective study.<p class="ab...

Congenital adrenal hyperplasia (CAH) due to 21 hydroxylase deficiency is one of the most frequent endocrine genetic diseases. Adrenal rests have been described and can decrease fertility in men1. In a retrospective multi-center study we wanted 1.to evaluate the frequency of adrenal rests in classical forms of CAH (21-OH deficiency) by systematic ultrasonography (US); 2.to try to find the cause of this abnormality looking for a relationship between genotype and pheno...

Background: APECED syndrome is a rare monogenic disease caused by homozygous mutation of AIRE gene. It classically presents with chronic mucocutaneous candidiasis (CMC), hypoparathyroidism (HP), and adrenal insufficiency (AI) with an early onset in childhood. Non-endocrine manifestations as ectodermic dystrophy, asplenism and pneumonitis are also observed but their incidence remains unknown and their mechanisms not well understood. APECED has been poorly reported in France alt...

Aims: To assess the relationship between sleep quality and fear of hypoglycemia, glycemic variability and other diabetes-related outcomes in type 1 diabetes.Methods: Our data were provided by the VARDIA Study, a multicentric observational cross-sectional study conducted between June and December 2015. Sleep characteristics were assessed by Pittsburgh Sleep Quality Index (PQ1I). Fear of hypoglycemia was measured with the Hypoglycemia Fear Survey version I...

Recent pan-genomic analyses of tumor DNA identified specific patterns of DNA methylation –e.g. CpG islands hypermethylation in the promoter regions of genes- as pejorative prognostic markers in adrenocortical cancer (ACC). Integrated genomics clearly shows that ACC with such an hypermethylation belongs to specific subgroups of ACC with increased driver genes alterations and a poor survival.Aim: To confirm the prognostic value of this methylation pat...