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49th Annual Meeting of the British Society for Paediatric Endocrinology and Diabetes

Belfast, Ireland
02 Nov 2022 - 04 Nov 2022

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49th Meeting of the British Society for Paediatric Endocrinology and Diabetes

Poster Presentations

Pituitary and Growth 1

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...

ea0085p43 | Pituitary and Growth 1 | BSPED2022

Neurobehavioural impairments in children with septo-optic dysplasia: a scoping review

Mann Amy , Aghababaie Arameh , Kalitsi Jennifer , Martins Daniel , Paloyelis Yannis , Kapoor Ritika R

Background: Septo-optic dysplasia (SOD) is a rare congenital condition diagnosed in children with two or more of hypothalamo-pituitary axis dysfunction, midline brain abnormalities, and optic nerve hypoplasia. SOD has a heterogenous clinical phenotype, characterised by varying visual impairment and endocrine dysfunction. Autistic-like behaviours have also been reported in children with SOD, however the nature of these neurobehavioural impairments remain to be fully understood....

ea0085p44 | Pituitary and Growth 1 | BSPED2022

Understanding the molecular basis of short stature in six patients with pathogenic variants in HMGA2

Maharaj Avinaash , Cottrell Emily , van Duyvenvoorde Hermine , de Bruin Christiaan , Joustra Sjoerd , Kant Sarina , van der Kaay Danielle , Inmaculada Castilla de Cortazar Larrea Maria , Massoud Ahmed , Metherell Louise , Hwa Vivian , Hombach-Klonisch Sabine , Klonisch Thomas , Storr Helen

Background: Silver-Russell syndrome (SRS) is a unique disorder characterised by characteristic features and growth restriction due to 11p15 LOM or upd(7)Mat in ~60% cases. Monogenic defects are a rare cause of SRS and HMGA2 mutations have been identified in 4 cases to date. The function of HMGA2 is poorly understood.Objectives: Assess the clinical phenotypes of 6 new patients with novel heterozygous HMGA2 defects and evaluate t...

ea0085p45 | Pituitary and Growth 1 | BSPED2022

The use of 6-monthly GnRH analogues in the paediatric population

Apperley Louise , Dharmaraj Poonam , Blair Joanne , Ramakrishnan Renuka , Das Urmi , Didi Mohamed , Laing Peter , Yung Zoe , Cassidy Kelly , Blundell Pauline , Jarvis Charlotte , Parkinson Jennifer , Senniappan Senthil

Background: Pubertal progression is inhibited in central precocious puberty with the use of gonadotropin releasing hormone (GnRH) analogues. They are usually given every 10 to 12 weeks via an intramuscular depot, but more recently, a 6-monthly preparation has become available for clinical use.Aim: The aim of this project was to evaluate the efficacy and acceptability of 6-monthly triptorelin, a GnRH analogue, at a tertiary childrenÂ’s hospital.<p...

ea0085p46 | Pituitary and Growth 1 | BSPED2022

A rare heterozygous IGFI variant impairing IGF-I cleavage and causing postnatal growth failure: a novel disease mechanism offering insights into IGF-I physiology

Cottrell Emily , Andrews Afiya , Williams Jack , Chatterjee Sumana , Edate Sujata , Metherell Louise A. , Hwa Vivian , Storr Helen L.

Background: Pathogenic IGFI gene mutations causing childhood growth failure are extremely rare. Only five autosomal recessive mutations, one IGFI copy number variant and two heterozygous frameshift mutations are reported. Heterozygous missense IGFI mutations havenÂ’t previously been described.Objectives: To identify and functionally characterise a novel missense IGFI variant in a patient with postnatal growth failu...