Endocrine Abstracts

Bladder Paragangliomas (PGLs) constitute < 1% of all bladder tumours and 5% in our patient cohort of 80 patients with tumours due to SDH deficiency. They often display an aggressive phenotype with metastatic disease and require long-term follow up. SDHB immunostaining plays a significant role in initial risk stratification and facilitating appropriate genetic testing. We present four cases of bladder PGLs; two with SDHB mutation, one SDHA and one is awaiting extended genet...

Bladder Paragangliomas (PGLs) constitute < 1% of all bladder tumours and 5% in our patient cohort of 80 patients with tumours due to SDH deficiency. They often display an aggressive phenotype with metastatic disease and require long-term follow up. SDHB immunostaining plays a significant role in initial risk stratification and facilitating appropriate genetic testing. We present four cases of bladder PGLs; two with SDHB mutation, one SDHA and one is awaiting extended genet...

Current strategies for identifying substances that adversely affect the thyroid hormone (TH) system (e.g. endocrine disrupting compounds [EDC]) are exclusively focussed on changes in serum TH concentrations and thyroid histopathology. This is based on the assumption that altered TH concentrations in serum directly result in impaired TH action in tissues. However, TH action is also regulated by hormone transport into cells and tissues (e.g. MCT8), activation of T4 to T3 by deio...

Male infertility affects 7% of the general population and in about 50% of cases the aetiology remains unknown. The routine genetic testing is based on karyotype analysis and the screening of Y chromosome deletions. For long time the role of the other sex chromosome, the X chromosome, in spermatogenesis remained largely unexplored. While both sex chromosomes are derived from a pair of autosomes around 300 million years ago, their current size and gene content differs dramatical...

Introduction: Hyalinizing trabecular tumors are extremely rare and uncommon thyroid tumors, which were first described by Carney et al. Until now, their preoperative diagnosis based on cytological characteristics is not possible, because of the lack of specific features and molecular markers.Case presentation: We present a 38-year-old Caucasian female, non-smoker, with a disease-free medical history, with a right-sided clearly delimited large hy...

Background: Multiple endocrine neoplasia type 1 (MEN1) (OMIM 131100) is an autosomal dominant disorder associated with a high risk of developing parathyroid hyperplasia (90%), digestive neuroendocrine tumors (30–70%) and pituitary adenomas (30-40%). Prevalence of MEN1 is 2-10/100.000, there are no differences between men and women and usually, it is diagnosed before 40 years old. It is related to different mutations of the MEN1 tumour-suppressor gene (OMIM: 613733) which ...

Context: Obesity is a global epidemic and an independent risk factor for several metabolic disorders. Emerging evidence suggests a role for epigenetic factors, such as microRNAs (miRNAs), in the development of obesity. MiRNAs are small non-coding RNAs that regulate gene expression. Moreover, circulating miRNAs are potential noninvasive biomarkers because they are stable in body fluids and can be detected using validated techniques, such as quantitative PCR. However, the identi...

Introduction: Adult Growth Hormone Deficient (AGHD) patients have often a difficult path from diagnosis to treatment. A patient advisory panel was conducted to better understand the AGHD patient journey and how this could be supported. This format was chosen to allow for direct patient to patient interactions and discussions and for physicians to learn.Findings: A total of nine patient advisors (three childhood-onset; six adult-onset, age 33–67 year...

Background: Hypovitaminosis D is associated with poor dietary intake and inadequate sunshine exposure. It is common worldwide. However, recent studies has shown a high prevalence of hypovitaminosis D in Moroccan population.Objective: We undertook this study to determine the specific prevalence of hypovitaminosis and its relationship to metabolic parameters in pre-menopausal women living in a sunny region.Methods: The group studied ...

Background: Accurate genetic diagnosis is essential in disorders of sex development (DSD), guiding medical management and enabling optimal personalized care delivery.Case presentation: Two siblings (I and II) with a family history of 17β-hydroxysteroid dehydroxygenase (17β-HSD3) deficiency presented postnatally with isolated labial swelling. Karyotype was 46,XY and urinary steroid profile (USP) normal. HCG-stimulated testosterone/androstenedion...