Endocrine Abstracts

Vitamin D-dependent rickets type-1 (VDDR1) is an autosomal recessive disorder characterised by onset of rickets by 2 years of age, accompanied by poor growth and hypotonia, muscle weakness, seizures, hypocalcaemia with secondary hyperparathyroidism, hypophosphataemia and normal plasma 25-hydroxyvitamin D (25(OH2)D) concentration that distinguishes VDDR1 from vitamin D deficient rickets. VDDR1 is caused by loss-of-function mutations of the 25-hydroxyvitamin D 1-alpha...

A 35 year old woman was referred to Endocrinology after imaging investigating unexplained pyrexia demonstrated an absent uterus. She was of Pakistani origin and was born phenotypically female with reported normal female genitalia. During late teenage years she experienced virilisation with deepening voice, increased pubic and axillary hair and clitoromegaly. She had absent breast development. Her parents were first cousins and siblings were unaffected. Investigations in Pakist...

Introduction: Echocardiographic studies in patients with primary hyperparathyroidism (PHPT) suggest that up to half of patients have left ventricular dysfunction and an increased risk of congestive heart failure that improve after parathyroidectomy. The cardiac hormone B-type natriuretic peptide (BNP) is an independent risk marker for heart failure.Methods: Prospective cohort study of consecutive unselected patients with biochemical diagnosis of PHPT. Pl...

An 8-year-old girl presented with a new diagnosis of diabetes mellitus in severe diabetic ketoacidosis (DKA) (pH 6.8, BE -31.5 mmol/l, glucose 25 mmol/l, ketones 4 mmol/l). She had abdominal pain, vomiting, and Kussmaul breathing on a background of osmotic symptoms for a few months. She was treated with fluid resuscitation, replacement fluids and intravenous insulin in the high dependency setting. Initial laboratory sodium levels were low, 122 mmol/l (corrected for glucose 17....

Heterotrimeric G-proteins are important molecular switches that transduce extracellular ligand-binding at G-protein-coupled receptors (GPCRs) to intracellular signals. G-protein alpha-subunits (Gα) have two domains, a helical and GTPase domain, which provide structural stability and mediate GTPase activity, respectively. Gain-of-function Gα mutations cause endocrine conditions including McCune-Albright Syndrome, due to Gαs mutations, and a...

Heterotrimeric G-proteins are important molecular switches that transduce extracellular ligand-binding at G-protein-coupled receptors (GPCRs) to intracellular signals. G-protein alpha-subunits (Gα) have two domains, a helical and GTPase domain, which provide structural stability and mediate GTPase activity, respectively. Gain-of-function Gα mutations cause endocrine conditions including McCune-Albright Syndrome, due to Gαs mutations, and a...

Background: There is currently no agreed consensus for the optimization and titration of mineralocorticoid (MC) therapy in patients with primary adrenal insufficiency (PAI).Objective: To explore the relationship between serum (sFC) and urine (uFC) fludrocortisone levels and biochemically and clinically important variables, and to assess their utility in guiding and titrating MC replacement.Methods: Multi-centre, observational, cros...

Background: There is currently no agreed consensus for the optimization and titration of mineralocorticoid (MC) therapy in patients with primary adrenal insufficiency (PAI).Objective: To measure serum (sFC) and urine (uFC) fludrocortisone levels and explore their relationship with biochemically and clinically important variables (including treatment compliance) in order to evaluate their usefulness as markers to guide the MC replacement titration.<p ...

Background: Neonatal cortisol assessment is indicated in suspected adrenal insufficiency.Aims/objectives: Review of neonatal cortisol assessment within our Trust over seven years, to analyse trends, indications, outcomes; and relationships between gestational age (GA), birth weight (BW) and cortisol assessment.Methodology: From cortisol results on neonates (≤30 days age) between 2012–2018 (inclusive) we identified random...

Introduction: In neuroendocrine tumours (NETs), the urinary concentration of the serotonin metabolite 5-hydroxyindole acetic acid (5-HIAA) is used to monitor disease progression or treatment response. The sensitivity and specificity in the presence of the carcinoid syndrome are approximately 70 and 90%, respectively. Collecting a 24 hour urine specimen is difficult and inconvenient for patients and increases analytical variability. In addition, serotonin-containing foods may i...