Endocrine Abstracts

Introduction: Bartter Syndrome types 3 and 4 (BS3/4) are rare tubulopathies, caused by CLCNKB and BSND mutations, which affect chloride channel function in the loop of Henle and distal convolute. Historically, with late presentation and poor disease control, patients had severe short stature. Multiple case reports have also found associations between BS3/4 and Growth Hormone deficiency (GHD). Our aim was to investigate growth and presence of GHD in a large co...

Background: Syndrome of Inappropriate Antidiuretic Hormone secretion (SIADH) is a well-recognized complication of intracranial tumours (ICT). Fluid restriction as treatment for SIADH is challenging in infants since it is coupled with calorie restriction. Moreover, it may conflict with chemotherapy-associated hyperhydration protocols. Existing evidence on the use of the type-2 vasopressin receptor antagonist (Tolvaptan) for refractory SIADH in infants and young children is limi...

A 29y female presented with an 8y history of hypomagnesaemia. It was noted incidentally when hospitalised with mumps-related pancreatitis. Subsequently symptomatic hypomagnesaemia, with headaches and lethargy, was treated with magnesium glycerol phosphate 4 mg TDS, but she remained symptomatic with occasional need of IV Mg2+. It was thought that she was poorly compliant with her oral Mg2+ supplements. At presentation to our department for follow-up of her...

Introduction: Mutations in GNAS, affecting the alpha subunit of heterotrimeric G proteins, are implicated in several endocrinopathies. We report a patient with features of both receptor activation and inactivation in association with a novel de novo heterozygous somatic mutation.Case report: Asymptomatic hyponatraemia (Na 117-123) was identified in a male neonate, and treated with sodium supplementation and fludrocortisone. Biochemical data were...

Introduction: We present a patient with co-existence of 3β-Hydroxysteroid dehydrogenase type 2 deficiency (HSD3B2) the rarest form of Congenital Adrenal Hyperplasia (CAH) and Bartter Syndrome (hypokalaemic alkalosis secondary to hyperaldosteronism), a unique dual combination of opposing pathologies that has never been reported in the literature.Case Report: A female infant (46XX) born at 34/40 weeks gestation, weighing 2.67 Kg (−1.54 SDS) to n...

Familial hypocalciuric hypercalcaemia (FHH) comprises three types: FHH1, FHH2, and FHH3, which are due to mutations of the calcium-sensing receptor (CaSR), G-protein α 11 subunit (Gα11), and adaptor protein-2 sigma subunit (AP2σ), respectively. The aims of this study were: to assess for genotype–phenotype correlations among the three reported FHH3-causing AP2σ mutations, which all involve the Arg15 residue, and comprise Arg15Cys, Arg15His, and Arg15Leu...

Familial hypocalciuric hypercalcaemia (FHH) is an autosomal dominant disorder characterized by hypercalcaemia and inappropriately low urinary calcium excretion, and is occasionally associated with acute pancreatitis. FHH can be classified into three types: FHH type 1, caused by loss-of-function mutations of the calcium-sensing receptor (CaSR), which accounts for >65% of cases; FHH type 2, due to loss-of-function mutations of the G-protein α 11 subunit (Gα11), of ...