Searchable abstracts of presentations at key conferences in endocrinology
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45th Meeting of the British Society for Paediatric Endocrinology and Diabetes

Oral Communications

Oral Communications 3

ea0051oc3.1 | Oral Communications 3 | BSPED2017

Manifestation of hormone resistance depends on the type of inheritance in Albright’s Hereditary Osteodystrophy

Thanawala Nehal , Shenoy Savitha

Introduction: AlbrightÂ’s Hereditary Osteodystrophy (AHO, Pseudohypoparathyroidism type 1a) is inherited in an autosomal dominant manner. End-organ resistance is seen, primarily affecting parathyroid hormone (PTH) and thyroid hormones (TSH). The manifestation of hormone resistance, in particular resistance to PTH, depends on whether the mutated allele is inherited maternally or paternally.Cases: A 4 year old male child was incidentally found to have ...

ea0051oc3.2 | Oral Communications 3 | BSPED2017

A novel syndrome of nephrogenic syndrome of inappropriate antidiuresis, precocious puberty, parathyroid insensitivity associated with a novel GNAS mutation, p.F376V

Tully Ian , Kiff Sarah , Bockenhauer Detlef , Wilson Louise , Allgrove Jeremy , Gregory John , Dattani Mehul

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...