Searchable abstracts of presentations at key conferences in endocrinology
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44th Meeting of the British Society for Paediatric Endocrinology and Diabetes

Poster Presentations

Gonadal, DSD and reproduction

ea0045p43 | Gonadal, DSD and reproduction | BSPED2016

Extending the clinical utility of urinary gonadotrophin estimation in turner syndrome

McNeilly Jane D , Ahmed S Faisal , Mason Avril

Background: Girls with Turner Syndrome (TS) are at increased risk of primary ovarian failure. Previous studies have demonstrated that urinary gonadotrophins (UG) can be used as a non- invasive biochemical marker of pubertal status but their value in monitoring and managing girls with primary ovarian failure is unclear.Aims: To determine the range of UG in girls with Turner Syndrome (TS) and its correlation to serum LH and FSH.Patie...

ea0045p44 | Gonadal, DSD and reproduction | BSPED2016

Co-existence of congenital adrenal hyperplasia and bartter’s syndrome due to maternal uniparental isodisomy of HSD3B2 and CLCNKB mutations

Giri Dinesh , Viseras Irene , Bockenhauer Detlef , Deshpande Charu , Achermann John , Taylor Norman , Rumsby Gill , Senniappan Senthil , Ajzensztejn Michal

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...

ea0045p45 | Gonadal, DSD and reproduction | BSPED2016

5-alpha reductase deficiency: insights into the diagnosis and management of a rare condition

Monti Elena , Man Elim , Torpiano John , Rumsby Gill , Carmichael Polly , Storr Helen , Brain Caroline , Buchanan Charles , Conway Gerard , Spoudeas Helen , Mushtaq Imran , Hussain Khalid , Hughes Ieuan , Greening James , Achermann John , Dattani Mehul

Introduction: 5-alpha reductase deficiency (5aRD) is a rare cause of 46XY DSD, that affects sex development before birth and during puberty. The incidence is unknown; affected individuals have been described from all around the world, particularly in small communities or where consanguinity is common.Methods: A 20-year retrospective review of presenting features, biochemical data and genetic analysis of all patients presenting to a single multidisciplina...