Endocrine Abstracts

Mitotane (o.p’DDD, Lysodren) is used to treat adrenortical carcinoma and Cushing syndromes. It is catabolised into o.p’DDA and o.p’DDE. It is lowly protein-bound but its tropism for lipids is high. It has multiple side effects on the digestive gut increasing alkaline phosphatases and cholesterol. Patients treated with mitotane have been described as having decreased FT4 levels without any signs of hypothyroidism. We wanted to know whether this is due to an analy...

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...

Context: Multiple Endocrine Neoplasia type 1 (MEN1) is an autosomal dominant disease caused by mutations in the MEN1 gene. MEN1 is characterized by a broad spectrum of clinical manifestations, of which the most frequent are primary hyperparathyroidism, pituitary adenomas, and neuroendocrine tumors. MEN1 presents a broad spectrum of variants, including large deletions, and truncating, missense, or splicing point mutations. The genotype-phenotype relationship r...

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...

Objectives: Transition from paediatric (PC) to adult diabetes care (AC) is a vulnerable period for young people (YP). The West Midlands (WM) Regional Paediatric Diabetes Network conducted a region-wide study of Diabetes transition outcomes to identify 1. Areas of good practice, 2. Risk factors for poorer outcomes, 3. Regional objectives for services and 4. Provide baseline data against which future performance can be measured.Methods: Retrospective regio...

Context: Androgen insensitivity syndrome (AIS) is a rare X-linked recessive disordercaused by mutations in the androgen receptor (AR) gene resulting in variable target tissue resistance to androgen action. The underlying molecular defect causes a spectrum of androgen dysfunction ranging from gynecomastia and/or infertility in mild AIS (MAIS) to variable degrees of ambiguous or undermasculinized genitalia in partial AIS to complete testicular feminization in complete A...

Introduction: Pheochromocytoma and most abdominal paraganglioma (PPGL) can secrete catecholamines. In vitro and in vivo, catecholamines modulate bone remodeling by stimulating bone resorption. In patients with PPGL, four studies have previously demonstrated an increase of biological markers of bone resorption, a decreased of bone density and a higher prevalence of vertebral fractures. We report two patients with malignant abdominal secreting paraganglioma pre...

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 ...

Neonatal severe hyperparathyroidism (NSHPTH) and FHH, usually defined as a ratio of calcium clearance/creatinin clearance <0.01 with normal kidney function and vitamin D status, are caused by respectively heterozygote and homozygote inactivating mutations of the CaSR gene. The aim of this study was to assess the interest of analyzing CaSR in hypercalcalcemic subjects suspected to have FHH.Patients and methods: Forty hypercalcaemic subjects fro...

Introduction: Paraneoplastic endocrine syndrome such as hypercalcemia in malignancy is well-known. However, paraneoplastic insulin resistance is rarely described and its management is challenging.Case history: A 33 years old teetotal gentleman with BMI of 37.5 kg/m2 and histological diagnosis of desmoid tumour presented with osmotic symptoms, weight loss, hyperglycemia and normal ketones. He was hemodynamically stable with no clinical or bioch...