Endocrine Abstracts

The Miller-McKusick-Malvaux (3M) syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of skeletal anomalies, facial dysmorphism and normal intelligence. Mutations in the CUL7 gene (6p21.1) are most often responsible for 3M syndrome (67% of cases). Other causal mutations include those in the OBSL1 gene (2q35), in 28% of cases, or the CCDC8 gene (19q13.33), in ...

Introduction: We describe a girl presenting with abnormal facial features, growth restriction with insufficient growth hormone production and learning difficulties. She has an unbalanced translocation between 17p13.3 and 10q26.13 causing a microdeletion at 17p13.3 and trisomy of 10q26.Case report: At presentation at 7½ years of age, her height was 4 cm below the 0.4th centile with a growth velocity of 1.6 cm/year; weight was on 0.4th centile. Invest...

National training surveys demonstrate that medical trainees feel under-prepared for practice and under-prepared for managing emergencies, such as diabetic ketoacidosis (DKA). It is challenging for traditional clinical training to guarantee first-hand exposure to all medical emergencies as they occur at random and often out-of-hours, resulting in only minority of students witnessing many emergencies first-hand. It is unfeasible for most universities to provide in-person simulat...

Anorexia nervosa is a common psychiatric disease, with a prevalence of 1–2% of college-aged women, characterized by chronic starvation. Nutritional deprivation is complicated by serious and multi-axis endocrine dysregulation. This includes abnormalities in GnRH secretion resulting in hypothalamic amenorrhea, with resultant estrogen and androgen deficiency, which is usually but not always reversible with weight and psychiatric recovery. GH resistance at the level of the li...

The treatment of growth hormone deficiency (GHD) with growth hormone (GH) leads to increased bone turnover, new bone formations and increased bone mineral density (BMD). This response is paralleled by an increased demand for bone substrate. We present a case in which the increased turnover induced by GH treatment revealed previously occult metabolic bone disease.The patient a 56-year-old male with panhypopituitarism following treatment for acromegaly, co...

Hyponatraemia is the commonest electrolyte disturbance among inpatients. Prompt diagnosis and management of the underlying cause is important. A 49-year-old Caucasian male presented to the emergency department with a two-day history of fever, altered mental status, vomiting, diarrhoea and postural dizziness. A rapid point of care RT-PCR test resulted positive for the SARS-CoV-2. A provisional diagnosis was presented of COVID-19 encephalopathy. The patient was usually fit and w...

It is now recognized that vitamin D influences the innate immune system and recent studies have highlighted the importance of local synthesis of 1,25-dihydroxyvitamin D (1,25D) for these responses. Production of 1,25D from 25-hydroxvitamin D (25D) is catalyzed by 25-hydroxyvitamin D 1α-hydroxylase (CYP27B1; 1α-OHase). Vitamin D is metabolized by 24-hydroxylase (CYP24A1; 24-OHase). A key part of the innate immune response is pathogen recognition by the toll-like recep...

Background: Quantification of 1,25-dihydroxyvitamin D (1,25(OH)2D) remains challenging because of low circulating concentrations and potent cross-reactivities with steroid-like structures. The most frequent assays for 1,25(OH)2D testing are still based on RIA format with preliminary extraction. The analytical performances and the turnaround time of analysis (TAT) for these assays are limited. Several novel assays for 1,25(OH)2D testing are emer...

Malignant neoplasm of the Adrenal gland is rare and carries a poor prognosis. Presentation is with either symptoms of hormone excess; Cushings Syndrome (Steroids), Conns Syndrome (Aldosterone), Virilisation (Androgens), Feminisation (Oestrogens), Phaeochromocytoma (Catecholamines) or abdominal mass, and patients often present with hypertension. Laboratory investigations confirm clinical suspicion of isolated hormone excess. Surgical resection offers the best chance for long-te...

Background: Multiple endocrine neoplasia type 2 (MEN2) is a group of pleomorphic syndromes which infer a susceptibility to several endocrine conditions. The RET Val804Met mutation is classified as a moderate-risk mutation for familial medullary thyroid cancer (MTC), without the other components of MEN2 syndromes. However, here we describe a rare case of a gentleman with RET p.V804M, presenting with primary hyperparathyroidism (PHPT) and no evidence of MTC.<p class="abstext...