Searchable abstracts of presentations at key conferences in endocrinology

ea0085p41 | Pituitary and Growth 1 | BSPED2022

Use of the U.K. 100,000 genomes project to identify the genetic basis of childhood pituitary disorders within a tertiary paediatric endocrinology centre

McGlacken-Byrne Sinead , Gregory Louise , Roberts Rowenna , Clements Emma , Wakeling Emma , Katugampola Harshini , Dattani Mehul

Introduction: The UK 100,000 Genomes Project (100KGP) investigated the genetic basis of rare disease. The molecular drivers of most paediatric pituitary disease remains unknown.Methods: Children with genetically unexplained pituitary disorders attending a tertiary paediatric endocrinology centre were recruited to the 100KGP and underwent whole genome sequencing. Parental DNA was obtained where feasible. Virtual gene panels were applied and bioinformatic ...

ea0085p42 | Pituitary and Growth 1 | BSPED2022

The endocrine phenotype of SWI/SNF-associated coffin-siris syndrome includes pituitary endocrinopathies, pituitary hypoplasia, and septo-optic dysplasia

McGlacken-Byrne Sinead , Wakeling Emma , Peters Catherine , Dattani Mehul

Introduction: Coffin-Siris Syndrome (CSS) is a rare multisystem genetic disorder which often arises from genetic abnormalities within genes encoding for the SWI/SNF complex (ARID1A, ARID1B, DPF2, SMARCA4, SMARCB1, SMARCA2, SMARCE1). Endocrine abnormalities previously associated with this disorder include idiopathic short stature, hyperinsulinism, obesity, growth hormone deficiency, and cryptorchidism. We describe the endocrine features and associated radiological find...

ea0078OC6.2 | Oral Communications 6 | BSPED2021

Body composition in adults with genetically-confirmed Silver-Russell syndrome.

Lokulo-Sodipe Oluwakemi , Inskip Hazel. M. , Byrne Christopher D. , Child Jenny , Wakeling Emma L. , Mackay Deborah J.G. , Temple I. Karen , Davies Justin H.

Silver-Russell syndrome (SRS) is characterised by low birth weight, short stature, and feeding difficulties in childhood, with marked leanness also described. There is limited information on body composition in older people with SRS.Objective: To evaluate body composition in adults with SRS. Methods: Participants aged ≥18 years with molecularly-confirmed SRS attended a single study appointment. Body composition was evaluated ...

ea0058p025 | Growth | BSPED2018

The phenotype and cardio-metabolic associations of Silver-Russell syndrome in an older cohort and the effects of childhood growth hormone treatment

Lokulo-Sodipe Oluwakemi , Wakeling Emma L , Child Jenny , Mackay Deborah JG , Inskip Hazel M , Byrne Christopher D , Davies Justin H , Karen Temple I

The classical features of Silver-Russell syndrome (SRS) appear to become less pronounced with increasing age. Small-for-gestational-age (SGA) birth is associated with adult metabolic syndrome. SRS is associated with SGA but the adult sequelae and long-term effects of childhood growth hormone (GH) treatment are unclear.Objective: To determine the phenotype and cardio-metabolic profile in older individuals with SRS and compare individuals previously untrea...

ea0058oc5.1 | Oral Communications 5 | BSPED2018

Growth outcomes in adolescents and adults with Silver-Russell syndrome and the effects of childhood growth hormone treatment

Lokulo-Sodipe Oluwakemi , Canton Ana P M , Giabicani Eloise , Ferrand Nawfel , Child Jenny , Wakeling Emma L , Binder Gerhard , Netchine Irene , Mackay Deborah J G , Inskip Hazel M , Byrne Christopher D , Davies Justin H , Temple I Karen

Childhood short stature in Silver-Russell syndrome (SRS) is frequently treated with growth hormone (GH), however final height and long-term body mass index (BMI) data are limited.Objective: To assess height and BMI in older individuals with molecularly confirmed SRS and compare those previously treated with GH to those untreated.Methods: Growth data on individuals aged ≥13 years with SRS were evaluated from UK, French and Ger...

ea0084op-08-37 | Oral Session 8: Basic 2 | ETA2022

Resistance to thyroid hormone alpha: molecular, biochemical and physiological approach to diagnosis and therapy

Agostini Maura , Pietzner Maik , Marelli Federica , Prapa Matina , Moran Carla , Edward Visser W. , Brown Dave , Thomas Ellen , Schoenmakers Erik , Romartinez-Alonso Beatriz , Scheuplein Rabea , Tylki-Szymanska Anna , Lyons Greta , Watson Laura , Rajanayagam Odelia , Schwedhelm Edzard , F. Hartmann Michaela , Wudy Stefan , Probst Maiken , MacDonald Stephen , Thomas William , Arlt Wiebke , Volker Uwe , M. Main Katharina , Feldt-Rasmussen Ulla , T. Dattani Mehul , Koren Dahll Louise , Demir Korcan , Kara Cengiz , Kirbiyik Ozgur , Mammadova Jamala , Cayır Atilla , Yarali Oguzhan , Phan-Hug Franziska , Sakremath Rajesh , Mohamed Zainaba , Shinawi Marwan , Gill Harpreet , pacaud Daniele , Perrier Renee , Poke Gemma , Hunter Wendy , Douzgou Sofia , Wakeling Emma , Gardham Alice , Lim Derek , Shears Deborah , Freel Marie , Omladic Jasna , Tansek Mojca , Writzl Karin , Farooqi Sadaf , Kopp Peter , Schwabe John , Persani Luca , Chatterjee Krishna

Objectives: THRA mutations cause Resistance to Thyroid Hormone α (RTHα), an underdiagnosed disorder with hypothyroid features but near-normal thyroid function tests (TFTs). We developed a pathway, combining molecular analyses, new biomarkers and physiological measurements, to better diagnose and treat this disorder.Methods: Structural and functional analyses of THRA variants, discovered by next generation sequencing in specifi...