hrp0098p2-366 | Late Breaking | ESPE2024

The genomic landscape of children with short stature presenting to a tertiary hospital in UAE.

Jacob Anju , Gharaibeh Sarah , Jain Ruchi , Taylor Alan , Shenbagam Shruti , AbuTayoun Ahmad , Elabiary Mohamed , Thalange Nandu

Introduction: Short stature (SS) is one of the most common reasons for referral to a pediatric endocrinologist. SS is defined as a condition in which an individual's height is below the 3rd percentile for age and sex. SS may be caused by hormonal (eg. growth hormone deficiency), environmental (eg. intrauterine growth retardation) and genetic disorders (eg. Turner syndrome, Noonan syndrome). The evaluation of children presenting with SS comprises detailed ...

hrp0092p2-18 | Adrenals and HPA Axis | ESPE2019

A Rare Case of Pseudohypoaldosteronism in a Neonate Secondary to Congenital Hydrometrocolpos

Kumar Shruti , McDermott Helen , Kamupira Sheilah , Chizo Agwu Juliana

Background: Hydrometrocolpos is a condition resulting in distension of the vagina and uterus due to accumulation of secretions (other than blood), caused by increased oestrogenic stimulation and vaginal outflow obstruction. The incidence in term neonates is 0.00014-0.001%. The condition presents at extremes of childhood, at birth when maternal circulating hormones are raised and at menarche when oestrogen production commences. Pseudohypoaldosteronism (PHA)...

hrp0098p2-243 | Pituitary, Neuroendocrinology and Puberty | ESPE2024

Overweight and obesity in children and young people with CNS tumours

Ramakrishnan Anand , Mondkar Shruti , Laing Peter , Didi Mohammed , Blair Joanne , Senniappan Senthil

Introduction: Hypothalamus is a key regulator of hunger and energy expenditure. Children with CNS tumours are at risk of hypothalamic and pituitary dysfunction which could be related to the direct effects of the tumour or treatment.Aim: To assess the prevalence and severity of obesity in children diagnosed and treated for CNS tumours at a tertiary paediatric centre.Methods: We retr...

hrp0094p2-417 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

A case report of Non-syndromic 46, XX testicular DSD presenting as a genital ambiguity - Clinical, molecular and cytogenetic analysis

Behera Kishore , behera Smruti , Sahoo Subrat

Background: To demonstrate the etiology of 46, XX sex reversal by investigating the clinical feature and its relationships with chromosomal karyotype and the SRY (sex-determining region Y) gene.Methods: A child with genital ambiguity with hypospadias and bifid scrotum consulted to our endocrine OPD for further management. Clinical data was noted, and Karyotype analysis of G-banding in lymphocytes and Fluorescence in situ hybridization (FISH) wer...

hrp0094p2-110 | Diabetes and insulin | ESPE2021

A quality improvement project of a Young Adult Diabetes (YAD) service at a UK specialist centre.

Hirani Dhruti , Unsworth Rebecca , Mahmood Adil , Jones Emma , Begum Farzana , Jairam Carol , Vieria Soraia , Bound Chris , Mengistu Zalalem , Jarvis Sheba , Logan Karen , Oliver Nick , Watson Mando , Reddy Monika ,

Introduction: The joint young adult diabetes (YAD) service at a specialist UK centre facilitates transition from paediatric to adult diabetes care for young people (YP) aged 16-25 years. Since 2018, quality improvement interventions have included focus groups with young people, joint paediatric and adult specialist nurse appointments and recruitment of a type 1 diabetes educator. We assess the impact of these interventions and changes imposed by the Covid-19 p...