Searchable abstracts of presentations at key conferences in endocrinology

ea0039ep6 | Adrenal | BSPED2015

Not always CAH: urine steroid profiling in the investigation and diagnosis of adrenal causes of neonatal hyponatraemia and failure to thrive

Lam Francis , Matei Cristina , Rumsby Gill

A 1 month old baby boy presented at a local district general hospital with failure to thrive. He was born to non-consanguineous Eastern European parents, with an 18 month old healthy sister. The term birth was unremarkable, with nil of note from the antenatal history. Initial clinical examination revealed a slightly low but stable blood pressure for age, but was otherwise normal.Investigations: Biochemistry results showed low plasma sodium (125 mmol/l) a...

ea0044ep1 | (1) | SFEBES2016

An unusual presentation of 17alpha hydroxylase deficiency

Moriarty Maura , Todd Jeannie , Lam Francis , Rumsby Gill , Wernig Florian

17alpha hydroxylase deficiency accounts for less than 1% of all patients diagnosed with congenital adrenal hyperplasia. Almost 100 mutations in the CYP17A1 gene causing 17-hydroxylase/17,20-lyase deficiency (17OHD) have been described (OMIM 609300). CYP17A1 is expressed in both the adrenals and gonads. Hallmarks of 17OHD include hypertension, hypokalaemia, primary amenorrhoea and absence of secondary sexual characteristics. Most patients with 17OHD remain infertile.</...

ea0033p6 | (1) | BSPED2013

Severe 21-hydroxylase deficiency congenital adrenal hyperplasia and congenital hypothyroidism due to thyroglobulin mutations in a single family: two distinct genetic disorders with phenotypic variability within a single family

Ponmani Caroline , Schoenmakers Nadia , Rumsby Gill , Nicholas Adeline K , Chatterjee Krishna , Dattani Mehul

Background: 21-Hydroxylase deficiency due to mutations in CYP21A2 represents the commonest form of congenital adrenal hyperplasia (CAH). Dyshormonogenetic congenital hypothyroidism (CH) may be due to TPO, TG, DUOX2, DUOXA2, IYD, SLC5A5 and SLC26A4 mutations.Case report: Two of six children born to unrelated parents presented in the neonatal period with salt-losing CAH due to compound heterozygosity in CYP21A2 (maternal...

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...

ea0055oc8 | National Clinical Cases | SFEEU2018

Recurrent severe hypoglycaemic episodes in the context of insulin receptor antibodies

Ronneberger Ruth , Nobeebux Afizah , Manova Yuliya , Rumsby Gill , Lam Francis , Woodward Gary , Isenberg David , Ehrenstein Michael , Halsall David , Church David , Semple Robert , Simpson Helen

We present a 32-year-old woman with recurrent hypoglycaemic episodes and a history of juvenile onset SLE. Over months, she experienced severe hypoglycaemic episodes with unconsciousness, occuring mainly in the early morning resulting in several hospital admissions. The patient had to take precautions like eating snacks between meals and before going to bed, and even setting an alarm clock to eat a bowl of porridge at 0200 h. She was of normal weight, did not present with any h...

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...