Oral Communications 8

ea0095oc8.1 | Oral Communications 8 | BSPED2023

Is there reversal of virilisation after commencing medical replacement therapy for 46XX classical congenital adrenal hyperplasia (CAH)?

Hennayake Supul , Goyal Anju , Patel Leena

Genitalia appear larger and swollen in all neonates due to the circulating maternal hormones and this subsides spontaneously over few weeks or months. Additionally, general growth of the rest of the body outpaces any growth of the genitalia during childhood, resulting in apparent reduction in the size of the genitalia comparatively. There are high levels of circulating androgens in children with CAH until the commencement of medical replacement therapy (MRT). It is universally...

0 shares

ea0095oc8.2 | Oral Communications 8 | BSPED2023

Rare variants in the MECP2 gene in girls with central precocious puberty

Read Jordan , Guasti Leonardo , Paganoni Alyssa , Howard Sasha

Key genetic contributors are recognised to underlie the phenotype of central precocious puberty (CPP), including the imprinted genes Makorin ring finger protein 3 (MKRN3) and Delta-like homolog 1 (DLK1), alongside Kisspeptin-1 (KISS1) and (KISSR1). These genes have implicated mis-regulation of transcriptional control of the kisspeptin and gonadotropin-releasing hormone (GnRH) neuroendocrine systems in onset of CPP. However, many familial cases of CPP remain without clear a gen...

0 shares

ea0095oc8.3 | Oral Communications 8 | BSPED2023

Dysregulated pathways reveal NOVEL mechanistic insights underlying HMGA2-related growth failure in Silver Russell Syndrome

Maharaj Avinaash , Cottrell Emily , Massoud Ahmed , Hwa Vivian , Storr Helen

Background: Silver Russell syndrome (SRS) is a heterogeneous disorder characterised by intrauterine and post-natal growth retardation, relative macrocephaly, protruding forehead, feeding difficulties and body asymmetry. Variants in HMGA2 are a rare cause of SRS and despite strong evidence for the crucial role of HMGA2 in growth regulation, the underlying mechanism underlying growth retardation has, thus far, not been elucidated....

0 shares

ea0095oc8.4 | Oral Communications 8 | BSPED2023

Association of newborn screening of congenital adrenal hyperplasia with outcomes in the first 90 days of life: a multi-centre I-CAH registry analysis of contemporary practice

BN Lim David , Bryce Jillian , R Ali Salma , Tseretopoulou Xanthippi , H Birkebaek Niels , E Hannema Sabine , Campos-Martorell Ariadna , Clemente Maria , Neumann Uta , E Fluck Christa , Metzger Sara , E Krone Ruth , German Alina , Baronio Federico , Atapattu Navoda , N Seneviratne Sumudu , Cools Martine , Mieke Thery , Guran Tulay , Yavas Abali Zehra , Fu Antony , Janus Dominika , Wasniewska Malgorzata , Coco Roberto , Russo Gianni , Rita Stancampiano Marianna , Bonfig Walter , Salerno Mariacarolina , L Claahsen-Van Der Grinten Hedi , P.H. Adriaansen Bas , Bachega Tania , C Miranda Mirela , Marginean Otilia , De Sanctis Luisa , Probst Ursina , Lenherr-Taube Nina , Konrad Daniel , O'Connell Michele , Gawlik Aneta , E Sandberg David , Shnorhavorian Margarett , Krone Nils , Faisal Ahmed S , Davies Justin H

Aims: We studied the association of newborn screening (NBS) on early infancy outcomes in 21-hydroxylase deficiency (21OHD) congenital adrenal hyperplasia (CAH), using I-CAH registry data.Methods: From 2018-2023, data was available for 121 infants with 21OHD CAH (52 male) during the first 90 days of life from 26 centres in 15 countries. NBS was performed in 15 centres from 9 countries.Result...

1 shares

ea0095oc8.5 | Oral Communications 8 | BSPED2023

Feasibility of integrating an exercise specialist supported by mHealth technology to increase exercise and physical activity in an adolescent Complications from Excess Weight Service: MOTIVATE-CEW

Davies Andrew , Hesketh Katie , Clarke Ellie , Apperley Louise , Sprung Victoria , Jones Helen , Kinnafick Florence , Senniappan Senthil , Cocks Matthew

NHS England has established several Complications from Excess Weight (CEW) services. Despite physical activity (PA) being an integral part of successful weight management programmes, the capacity to offer an effective PA program within CEW services could be limited by resources. The aim of the study was to assess the feasibility of embedding an exercise specialist led, mobile health (mHealth) technology supported, PA and exercise intervention (MOTIVATE-CEW) to a CEW service. A...

0 shares

Endocrine Abstracts

50th Annual Meeting of the British Society for Paediatric Endocrinology and Diabetes