Endocrine Abstracts

Cushing’s syndrome during pregnancy is a rare disorder. A 32-year-old pregnant woman presented with Cushing’s syndrome. She had had a medical abortion complicated with bleeding for anencephaly by 15 weeks of her first pregnancy. At the beginning of her second pregnancy, typical clinical signs of Cushing syndrome developed: extensive red stretch marks on the abdomen and thighs, excessive weight gain (24 kg over 17 weeks) and high blood pressure (150/90 mmHg). By week ...

Introduction: Type 1 diabetes (T1D) and multiple sclerosis (MS) are autoimmune diseases with common immunological mechanisms. Type 1 diabetics have an increased risk of MS. The aim of this work is to report a clinical observation of a partial preservation of β-cell function in a type 1 diabetic patient treated early by Fingolimod for MS.Observation: A polyuro-polydipsic syndrome and a weight loss of 10 kg led to the diagnosis of T1D (typing HLA DR4/...

CYP24A1 gene encodes 24-hydroxylase that inactivates 1-25-OHvitaminD. Mutations induce infantile hypercalcemia, with high 1-25-OHvitaminD, contrasting with low PTH levels. Adult phenotypes are not well known yet. We report two cases of post-surgical persistent hypercalcemia, related to CYP24A1 mutations. Two unrelated patients, a 40-year-old female (#1) and 54-year old male (#2), were referred for nephrolithiasis, enthesis and hypertension in both, associated...

Background: The myotonic dystrophy type 1 (DM1) or Steinert disease is the most common inherited, autosomal dominant neuromuscular disorder in adult. The gonadal dysfunction has been known for many years in DM1 men with description of bilateral testicular atrophy but the factors influencing the different profiles of gonadal dysfunction, and their natural evolution are not clearly established. The purpose of this study was to determine the profiles of gonadal function on men af...

Calcium-sensing receptor gene (CASR) loss-of-function mutations lead to familial hypocalciuric hypercalcaemia (FHH), neonatal severe hyperparathyroidism, and primary hyperparathyroidism. FFH is characterized by mild hypercalcaemia, hypocalciuria, calcium clearance/creatinine clearance (CaCl/CrCl) <0.01, normal or high PTH level. Nevertheless the phenotype may vary (Thakker 2012). The aim of this work was to compare the phenotypes of patients bearing or not a pathogenic <em...

Introduction: The diagnosis of non-HIV lipodystrophies is challenging, especially since borderline forms with type 2 diabetes have been described (Strickland Diabetes Care 2013).Objective: To identify the most specific anthropometric and biological parameters enabling to differentiate lipodystrophic from obese and control subjects.Methods: This prospective study (clin.gov 2009-AO-1169-48) included 94 patients divided in 3 groups ad...

Aggressive adreno-cortical carcinoma (ACC) is a rare, aggressive malignancy, with poorly understood molecular pathogenesis. As a result, therapeutic options are currently limited, surgery being currently the lone curative modality. Most cases of ACC are sporadic, although some familial cancer syndromes (Li–Fraumeni, Beckwith–Wiedemann, MEN1, Carney complex, congenital adrenal hyperplasia, etc.) are associated with an increased incidence of ACC. The genes involved in ...

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....