hrp0095p1-570 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Does your daughter have a larger than usual clitoris”? Parental perception of CAH management outcome

Chikani Mg o , Alderson Julie , Skae Mars , Crowne Liz

Background: Following the intense debates and controversies regarding all forms of genital surgeries on minors, particularly the appropriateness of clitoral surgeries, assessing all outcomes of clitoromegaly management is imperative in directing future management.Methods: As part of a broader qualitative interview study involving 25 parents of patients with confirmed cases of clitoromegaly due to congenital adrenal hyper...

hrp0086p2-p796 | Pituitary and Neuroendocrinology P2 | ESPE2016

Severe Juvenile Hypertrophy of the Breast with Hypercalcaemia; Mastectomy v’s Reduction Surgery

McGregor David , Candler Toby , Selby Georgina , Crowne Liz , Rayter Zenon

Background: A 10 year old girl with a background history of severe autism and developmental delay presented with significant and rapidly progressive asymmetrical breast enlargement accompanying her relatively rapid progress through puberty. There was associated tissue breakdown exacerbating her discomfort and leading to increasing problems with anxiety and behaviour.Objective and hypotheses: To explore the aetiology of the huge breast development and the...

hrp0095p1-547 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Project to improve paediatric post-neurosurgical fluid management and to reduce the risks associated with Diabetes Insipidus (DI), Syndrome of Inappropriate ADH (SIADH) and Cerebral Salt Wasting (CSW).

Miller-Molloy Felix , Saxena Shreya , Bowen Philippa , Fellows Greg , Crowne Liz

Background: Complex fluid balance problems are well established post-neurosurgery and traumatic brain injury (TBI). The triple-phase response requires fluid management strategies reactive to urine output as patients shift between DI and SIADH. Prevalence of CSW is controversial; but ensuring sodium homeostasis is central to safe fluid management. To improve clinical care for these complex patients an audit of existing institutional guidelines was undertaken. N...

hrp0089p1-p190 | Multisystem Endocrine Disorders P1 | ESPE2018

Overview of Leading Causes of Death among French Patients with Prader-Willi Syndrome, 2004–2014

Liz Pacoricona Alfaro Dibia , Lemoine Perrine , Molinas Catherine , Diene Gwenaelle , Arnaud Catherine , Tauber Maithe

Introduction: Prader-Willi Syndrome (PWS) is a complex neurodevelopmental genetic disease comprising multiples cognitive, behavioural and endocrine abnormalities. This rare syndrome is one of the most common known reasons of syndromic obesity, a major cause of morbimortality among this population. In the last 20 years, substantial improvements have been made regarding the diagnosis, treatment and management of patients with PWS. Along those progresses, national policies were d...

hrp0092rfc4.3 | Fat Metabolism and Obesity Session | ESPE2019

Dysregulated Gene Expression Profile in Visceral Adipose Tissue of Juvenile Wistar Rats with Catch-Up Growth: Association with Fat Expansion and Metabolic Parameters

Lizárraga-Mollinedo Esther , Carreras-Badosa Gemma , Remesar Xavier , Xargay-Torrent Silvia , Mas-Parés Berta , Prats-Puig Anna , de Zegher Francis , Ibáñez Lourdes , López-Bermejo Abel , Bassols Judit

Background: Accelerated catch-up growth following intrauterine growth restriction increases the risk of developing visceral adiposity and metabolic syndrome. Animal models of growth restriction during gestation have been developed as a powerful tool to provide insight into the underlying molecular mechanisms thereof.Objective: To analyze the patterns of gene expression in the retroperitoneal adipose tissue of rats with i...

hrp0092p1-193 | Fat, Metabolism and Obesity (1) | ESPE2019

Circulating Insulin-Like Growth Factor-I Independently Predicts Blood Pressure in Apparently Healthy Children

Xargay-Torrent Sílvia , Dorado-Ceballos Estefanía , Benavides-Boixader Anna , Lizárraga-Mollinedo Esther , Mas-Parés Berta , Montesinos-Costa Mercè , Zegher Francis de , Ibáñez Lourdes , Bassols Judit , López-Bermejo Abel

Background and Objectives: In adults, discordant associations exist between insulin-like growth factor-I (IGF-I) and blood pressure with scarce reports in apparently healthy children. IGF-I levels increase during puberty in parallel to calcium and phosphorus levels. In this context, our aim is to study the association between IGF-I and blood pressure in apparently healthy children, together with the interaction of the serum calcium-phosphorus product (Ca*P...

hrp0097p1-569 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

National service evaluation project analysing the quality of care for children and young people with congenital adrenal hyperplasia in the United Kingdom: Data from patients and clinicians

Bacila Irina , R Lawrence Neil , Ji Xiaochen , Faisal Ahmed S , Alvi Sabah , Bath Louise , Blair Jo , Cheetham Tim , Crowne Liz , H Davies Justin , Dattani Mehul , Gevers Evelien , Krone Ruth , Patel Leena , Thankamony Ajay , Randell Tabitha , Ryan Fiona , Elford Sue , Blackett Sallyann , P Krone Nils

Background: The variation in the provision of services in secondary and tertiary care for children and young people living with CAH in the United Kingdom is unknown. We aimed to conduct a nationwide service evaluation to inform from both the patient and clinician perspective.Methods: We conducted an anonymous multicentre survey using online questionnaires for clinicians and CAH patients/carers. Clinical leads from UK cen...