hrp0084p2-224 | Bone | ESPE2015

Fractures in Boys with Duchenne Muscular Dystrophy and their Relationship to Age

Joseph Shuko , Di Marco Marina , Horrocks Iain , Ahmed S Faisal , Wong S C

Objective and hypotheses: A retrospective review of bone morbidity in a contemporary cohort of boys with Duchenne muscular dystrophy (DMD) managed in a Scottish tertiary neuromuscular centre.Method: Clinical details and results of bone surveillance were obtained in 47 boys, aged 9 years (2–16). DXA bone mineral content (BMC) at total body (TB) and lumbar spine (LS) were adjusted for bone area. Fractures were classified based on radiological confirma...

hrp0084p2-251 | Diabetes | ESPE2015

Sick Day Rule: Survey of Parents of Children with Type 1 Diabetes (Experience and Knowledge)

Agwu Juliana Chizomam , Ng S May , Drew J , Edge J , Kershaw M , Wright N , Gardner C

Background: Inappropriate management of illness/stress, accidental or deliberate insulin omission are some of the causes of Diabetes ketoacidosis (DKA) in patients with established diabetes. During illness, patients with type 1 diabetes are advised to monitor for hyperglycaemia and ketosis, maintain fluid intake and if required, to administer supplemental insulin. Previous studies have confirmed that comprehensive diabetes self- management education (DSME) programs on manageme...

hrp0084p2-449 | Growth | ESPE2015

Risk for Non-Alcoholic Fatty Liver Disease in Young Adults Born Preterm

Breij Laura M , Kerkhof Gerthe F , Hokken-Koelega Anita C S

Background: Non-alcoholic fatty liver disease (NAFLD) is considered the hepatic manifestation of metabolic syndrome. Accelerated catch-up in weight during infancy in subjects born term has been associated with increased risk for NAFLD in adulthood, but this association has not been studied in subjects born preterm.Objective and hypotheses: To investigate the associations of birth weight, gain in weight for length and accelerated catch-up in weight in the...

hrp0084p3-1190 | Thyroid | ESPE2015

Two Patients with Allen–Herndon–Dudley Syndrome: a Novel Mutation on MCT8 Gene

Mutlu Gul Yesiltepe , Kirmizibekmez Heves , de Souza Elaine C Lima , Hatun Sukru , Visser Theo J

Background: Monocarboxylate transporter 8 (MCT8) is a specific transporter of triiodothyronine (T3). MCT8 gene mutations cause a rare X-linked disorder known as Allan–Herndon–Dudley syndrome, characterized by thyroid dysfunction (high T3, low T4, and normal/high TSH) and psychomotor retardation.Case report: A 4-year- and 9-month-old boy, who was already having L-T4 treatment fo...

hrp0094fc7.5 | Fetal Endocrinology and Multisystem Disorders | ESPE2021

Rituximab therapy in Rapid-Onset Obesity, Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) Syndrome

Hawton Katherine , Doffinger Rainer , Ramanan Athimalaipet , Langton Hewer Simon C , Giri Dinesh , Hamilton Shield Julian P ,

Introduction: Rapid-onset obesity with hypoventilation, hypothalamic dysfunction and autonomic dysregulation (ROHHAD) is a rare syndrome that presents during early childhood and is associated with high morbidity and mortality. 40-50% of patients have neural crest tumours, most commonly ganglioneuromas or ganglio-neuroblastomas denoted by the suffix ROHHAD(NET) in a subset of patients. Currently, there is no specific diagnostic biomarker available and diagnosis...

hrp0094p1-88 | Pituitary A | ESPE2021

Pituitary microadenomas in childhood – is follow-up with diagnostic imaging necessary?

Borghammar Camilla , Tamaddon Askan , Erfurth Eva-Marie , Sundgren Pic C , Siesjo Peter , Nilsson Margareta , Elfving Maria ,

Aim: We aimed to investigate the growth potential of pituitary microadenomas and cystic lesions < 10mm in children, and to evaluate how reproducible the measurements were on magnetic resonance imaging (MRI).Design: Retrospective observational study.Methods: 74 children were included < 18 years at first pituitary MRI, and diagnosed with a microadenoma (microadenoma producing ACTH, GH or TSH ...

hrp0097fc7.5 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2023

SGPL1 deficiency, a cause of 46XY DSD and adrenal insufficiency, impairs lipid metabolism and steroidogenesis in Leydig cells

Kwong RMW , Smith CJ , Williams J , Hall C , Metherell LA , Prasad R

Loss of function mutations in SGPL1 (sphingosine-1-phosphate lyase) give rise to a multisystemic syndrome with predominating features of primary adrenal insufficiency (PAI) and steroid resistant nephrotic syndrome. Retrospective analysis of our patient cohort and the wider literature also demonstrated primary gonadal insufficiency in a third of male patients with microphallus and bilateral cryptorchidism (all with concomitant adrenal disease and high mortality in infa...

hrp0097p2-249 | Late Breaking | ESPE2023

Longitudinal Improvements in Health-Related Quality of Life among Children and Adolescents enrolled in Canadian Pediatric Weight Management Programs

Ybarra Marina , Rebekah Grace , D. C. Ball Geoff , Buchholz Annick , Hamilton Jill , Zenlea Ian , Morrison Katherine

Background: It is critical to understand patient-reported outcomes in pediatric patients enrolled in pediatric weight management (PWM) clinics. Health-related quality of life (HRQoL) is low in children with obesity. Utilizing data from the CANadian Pediatric Weight Management Registry (CANPWR), we examined (1) changes in HRQoL up to 3 years after enrollment in PWM and (2) factors associated with change in HRQoL over time.Methods:...

hrp0097fc7.2 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2023

Mapping the transcriptomic landscape of early human fetal ovary development through a clinically-focused lens

M McGlacken-Byrne Sinead , Del Torres Ignacio , P Suntharalingham Jenifer , Buonocore Federica , HDBR ICH , Crespo Berta , Moreno Nadjeda , C Simcock Ian , Arthurs Owen , Xenakis Theodoros , Niola Paola , Brooks Tony , T Dattani Mehul , C Achermann John

Introduction: Ovary development was once considered a largely passive process. RNA sequencing (RNAseq) approaches have allowed us to begin to characterise ovary development in previously unparalleled detail, revealing the process to be complex and, still, little understood. A challenge is synthesising and using these data to advance our understanding of clinical disease. Through a clinically-focused lens, we elucidate novel aspects of the transcriptional lands...

hrp0095p1-333 | Multisystem Endocrine Disorders | ESPE2022

Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome

P. Suntharalingham Jenifer , Ishida Miho , E. Stalman Susanne , Solanky Nita , E. Moore Gudrun , C. Achermann John , Buonocore Federica

Background: Heterozygous de novo variants in SAMD9 cause the complex multisystem growth disorder, MIRAGE syndrome. Core features are myelodysplasia, infection, restricted growth, adrenal hypoplasia, genital/gonadal phenotypes, and enteropathy. However, the range of additional associations is expanding and includes disrupted placental development, poor post-natal growth, and other endocrine features. Milder phenotypes are also described, such ...