Searchable abstracts of presentations at key conferences in endocrinology

ea0036P3 | (1) | BSPED2014

Aldosterone synthase deficiency due to a novel mutation in CYP11B2

Bhandari Jasjit K , Dattani Mehul T , Nanduri Vasanta

Background: CYP11B2 encodes a steroid 11/18-β-hydroxylase that functions in mitochondria in the zonaglomerulosa of the adrenal cortex to synthesize the mineralocorticoid aldosterone. The enzyme catalyzes three necessary reactions: 11-β-hydroxylation of 11-deoxycorticosterone (11-DOC) to corticosterone, 18-hydroxylation of corticosterone to 18-hydroxycorticosterone (18-OHB); and 18-oxidation of 18-hydroxycorticosterone to aldosterone. Aldosterone synthase (<e...

ea0036P75 | (1) | BSPED2014

Relationship between IGF1 concentration and growth velocity in infants and toddlers

Losa Laura , Beisti-Ortego Anunciacion , Dattani Mehul T

Background: IGF1 is the biochemical marker of growth as it is supposed to reflect the activity of the GH axis. The usefulness of IGF1 measurements in children under 3 years has not been verified to date.Aim: We analysed the relationship between serum IGF1 concentration and growth velocity (GV) in children under the age of 3 years.Methods: We compared 300 IGF1 concentrations taken in children younger than 3 years with their GV at ti...

ea0036P76 | (1) | BSPED2014

Septo-optic dysplasia, multiple pituitary hormone deficiency and optic nerve hypoplasia: clinical and neuroradiological characteristics

Guemes Maria , Cerbone Manuela , Kasia Tessa , Gregory Louise , Dattani Mehul

Introduction: Multiple pituitary hormone deficiency (MPHD) and septo-optic dysplasia (SOD) are well known causes of hypopituitarism, but children with optic nerve hypoplasia (ONH) may also be at risk of hormone and neurocognitive disturbances. Clinical and neuroradiological findings of these three related conditions are characterised in this study, aiming to understand their pathophysiology.Design: Data from 140 patients with hypopituitarism (MPHD, SOD) ...

ea0030p32 | (1) | BSPED2012

Gonadotropin independent precocious puberty associated with later diagnosis of testicular embryonal carcinoma

Senniappan Senthil , Hakeem Vaseem , Wood Dan , Stoneham Sara , Dattani Mehul

Introduction: Testicular tumours are very rare in children and usually present as painless enlargement of the testis. Germ cell tumours account for the majority of testicular tumours in young people and embryonal carcinomas are a common component of germ cell tumours.Case report: A 9.8 year old boy presented with the development of pubic and facial hair over a period of 2 years. He had a growth spurt (Height +3 SDS and bone age advanced to 14.8 years) an...

ea0027oc1.7 | Oral Communications 1 | BSPED2011

Mild GH deficiency due to two novel homozygous mutations in the gene encoding GHRH receptor (GHRHR) in a single family

Gregory Louise C , Alatzoglou Kyriaki S , Dattani Mehul T

Introduction: Release of GH by the somatotroph cells of the anterior pituitary is stimulated by GHRH. GHRH acts via its transmembrane receptor, GHRHR, a G-protein coupled receptor that stimulates protein kinase A. Recessive mutations in GHRHR are associated with severe isolated GH deficiency (IGHD) with a final height in untreated patients between 130±10 cm (−7.2±1.6 SDS) and 114±0.7 cm (−8.3±0.1 SDS) in males and females respectively.</p...

ea0027p19 | (1) | BSPED2011

Mutations in the Sonic Hedgehog signalling pathway in patients with congenital hypopituitarism

Gregory Louise C , Webb Emma A , Panagiotakopoulos Leo , Dattani Mehul T

Introduction: The Gli-family of zinc-finger transcription factors regulates the Sonic Hedgehog (Shh) signalling pathway, critical for normal CNS development. Gli2 is essential for early pituitary and ventral forebrain development in mice, with mutations described in humans with holoprosencephaly (HPE), isolated hypopituitarism (HP) and cranial/midline facial defects. SHH mutations have been associated with phenotypes including HPE but not HP, despite murine studi...

ea0027p22 | (1) | BSPED2011

What does prolactin measurement add to the evaluation of pituitary hormone function?

Webb Emma , Lazze Pietro , Reddington Carly , Dattani Mehul

Background: Prolactin concentration is frequently measured as part pituitary function assessment, however there is little published data regarding result interpretation.Objective: To compare serum prolactin concentrations in children with isolated GH deficiency (IGHD), multiple pituitary hormone deficiency (MPHD) and septo-optic dysplasia (SOD).Methods: Patients were assigned to the appropriate study group based on the results of t...

ea0021p300 | Pituitary | SFEBES2009

Genetic screening for variability in regulatory regions of SOX2 and implications for hypothalamo-pituitary development

Alatzoglou Kyriaki S , Kelberman Daniel , Buchanan Charles , Dattani Mehul T

Background: SOX2 is a member of the SOX (SRY-related HMG box) family of transcription factors, and shares homology with SOX1 and SOX3 which are members of the SOXB1 subfamily. Heterozygous, de novo, loss-of-function mutations in SOX2 were initially reported in patients with bilateral anophthalmia/microphthalmia, developmental delay and male genital tract abnormalities, with variable manifestations including defects of the corpus callosum, oes...

ea0095p102 | Diabetes 3 | BSPED2023

Prohormone convertase 1/3 deficiency can be associated with diabetes mellitus in childhood

Varughese Rachel , Howard Sasha , Butler Gary , Dattani Mehul

Prohormone convertase 1/3 (PC1/3) deficiency is rare, caused by homozygous or compound heterozygous mutations in the PCSK1 gene. PCSK1 encodes a serine protease important in cleavage of several proneuropeptides and prohormones. Despite a variety of known endocrine associations, paediatric diabetes mellitus is rare, described only once before. Previous understanding was that biological activity of elevated proinsulin (<5% of the activity of insulin) confers protection from ...

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...