hrp0097rfc6.4 | Pituitary, neuroendocrinology and puberty 1 | ESPE2023

Earlier Occurrence of Puberty and Pubertal Hair Development in Boys and Girls - Insights from the DPV Initiative Data

Reschke Felix , Gohlke Bettina , Lanzinger Stefanie , Boettcher Claudia , Gemulla Gita , Thiele-Schmitz Susanne , Dunstheimer Desiree , van den Boom Louise , Joachim Woelfle , Reinhard Holl

Introduction: Pubertal onset is signaled by thelarche (in girls) and gonadarche (in boys) and indicates the beginning of the hypothalamic-pituitary-gonadal axis activity. Thus, the onset of pubic hair development usually coincides with adrenarche. Girls worldwide are experiencing earlier puberty, but it is uncertain if this trend affects boys, or if it applies to children with type 1 diabetes (T1D).Aim: The aim of this s...

hrp0097p1-476 | Fat, Metabolism and Obesity | ESPE2023

Complications of excess weight (CEW) seen in tier-3 paediatric weight management services: A two-centre experience

Apperley Louise , Hawton Katherine , Parkinson Jennifer , Owens Meghan , Semple Claire , Fitzgerald Amy , Easter Shelley , Clark Kate , Lund Kim , Clarke Ellie , Giri Dinesh , Senniappan Senthil , Hamilton-Shield Julian

Background: Children and young people living with severe obesity experience a range of complications of excess weight (CEW), however the prevalence of complications is not well defined. We have evaluated baseline clinical characteristics and CEW of patients seen in two multi-disciplinary tier-3 paediatric weight management services in different regions of the UK.Methods: All new patients (n=185) aged 2-17 years ...

hrp0094fc8.2 | Neuroendocrinology | ESPE2021

Recessive PRDM13 mutations result in hypogonadotropic hypogonadism and cerebellar hypoplasia

Gregory Louise C. , Whittaker Danielle E , Oleari Roberto , Quesne-Stabej Polona Le , Williams Hywel J. , UCL GOSgene , Torpiano John G , Formosa Nancy , Cachia Mario J. , Field Daniel , Lettieri Antonella , Ocaka Louise , De Martini Lisa Benedetta , Rajabali Sakina , Riegman Kimberley L. , Paganoni Alyssa J.J. , Chaya Taro , Robinson Iain C.A.F. , Furukawa Takahisa , Cariboni Anna , Basson M. Albert , Dattani Mehul T. ,

Three patients from two unrelated families in Malta; one consanguineous (siblings: Patient 1, male and Patient 2, female) and one non-consanguineous (Patient 3, male), manifested hypogonadotropic hypogonadism with delayed puberty, intellectual disability, scoliosis, and ataxia with cerebellar hypoplasia on MRI. GnRH tests revealed low peak LH and FSH concentrations in the patients: Patient 1; LH 2.3 IU/L, FSH 4.4 IU/L (14.3y), Patient 2; LH 3.6 IU/L, FSH 6.4 IU/L (12.5y), Pati...

hrp0095rfc1.1 | Thyroid | ESPE2022

European Thyroid Association Guideline on the Management of Pediatric Thyroid Nodules and Thyroid Carcinoma

Lebbink Chantal A. , Links Thera P. , Czarniecka Agnieszka , Dias Renuka P. , Elisei Rossella , Izatt Louise , Krude Heiko , Lorenz Kerstin , Luster Markus , Newbold Kate , Piccardo Arnoldo , Sobrinho Simões Manuel , Takano Toru , Paul van Trotsenburg A.S. , Verburg Frederik A. , van Santen Hanneke M.

At present no European recommendations for the management of pediatric thyroid nodules and differentiated thyroid carcinoma (DTC) exist. Differences in clinical, molecular, and pathological characteristics between pediatric and adult DTC emphasize the need for specific recommendations for the pediatric population. An expert panel was instituted by the executive committee of the European Thyroid Association (ETA) including an international community of experts from a variety of...

hrp0095p1-6 | Adrenals and HPA Axis | ESPE2022

Clinical and Genetic characterization of primary adrenal insufficiency in Sudanese children

A. Musa Salwa , A. Abdullah Mohamed , S. Hassan Samar , Qamar Younus , Hall Charlotte , Maitra Saptarshi , V Maharaj Avinaash , Mariela Marroquin Ramirez Lucia , Read Jordan , Smith Christopher , F Chan Li , A Metherell Louise

Background: Primary adrenal insufficiency (PAI) in children is an uncommon condition. Diagnosis is usually challenging especially in resource limited settings where facilities for antibodies and genetic testing are constrained. Many genetic etiologies have been reported in children with PAI due to congenital adrenal hyperplasia (CAH) and Allgrove syndrome are the commonest identified genetic causes to date in Sudan. Studies from Africa are rare and here we des...

hrp0095p1-66 | Fat, Metabolism and Obesity | ESPE2022

Effect of gender and age on the mental well-being and self-esteem of adolescents living with obesity: subanalysis from the ACTION Teens global study

Pedro López Siguero Juan , A. Baur Louise , Bereket Abdullah , Bin-Abbas Bassam , Chen Walter , Fernández-Aranda Fernando , Garibay Nieto Nayely , C.G. Halford Jason , Maffeis Claudio , Mooney Vicki , Karenina Osorto Cynthia , Reynoso Ricardo , Rhie Young-Jun , Toro-Ramos Martín

Background: The ACTION Teens study aimed to identify attitudes, behaviours and perceptions among adolescents living with obesity (ALwO), caregivers of ALwO (CGs) and healthcare professionals (HCPs) who treat ALwO. This subanalysis assessed the mental well-being and self-esteem of ALwO.Methods: ACTION Teens was a global, cross-sectional study (NCT05013359) that surveyed 5275 ALwO (aged 12–<18 years), 5389 CGs and...

hrp0095p1-67 | Fat, Metabolism and Obesity | ESPE2022

Effect of unawareness of obesity on perceptions of obesity and food/diet among adolescents living with obesity and their caregivers: subanalysis from the ACTION Teens global study

Bereket Abdullah , A. Baur Louise , Bin-Abbas Bassam , Chen Walter , Fernández-Aranda Fernando , Garibay Nieto Nayely , C.G. Halford Jason , Pedro López Siguero Juan , Maffeis Claudio , Mooney Vicki , Karenina Osorto Cynthia , Reynoso Ricardo , Rhie Young-Jun , Toro-Ramos Martín

Background: This subanalysis of the ACTION Teens study aimed to explore perceptions of obesity and food/diet among adolescents living with obesity (ALwO) and caregivers of ALwO (CGs) who were unaware of their/their child’s obesity.Methods: The global, cross-sectional ACTION Teens survey study (NCT05013359) assessed perceptions, attitudes and behaviours among 5275 ALwO (aged 12–<18 years), 5389 CGs and 2323...

hrp0095p1-273 | Fat, Metabolism and Obesity | ESPE2022

An adult-based genetic risk score for hepatic fat associates with liver and lipid traits in Danish children

Huang Yun , E. Stinson Sara , Bæk Juel Helene , A.V. Lund Morten , Aas Holm Louise , E. Fonvig Cilius , Grarup Niels , Pedersen Oluf , Christiansen Michael , Krag Aleksander , Stender Stefan , Holm Jens-Christian , Hansen Torben

Background and Aim: Several genetic variants associating with hepatic fat content in adults have been identified in genome-wide association studies. Their effects in children remain unclear. This study aimed to test the effect of genetic variants known to associate with hepatic fat in adults, individually and combined as a genetic risk score (GRS), on cardiometabolic traits, and to investigate the predictive ability of the GRS for hepatic steatosis in children...

hrp0092t4 | Top 20 Poster | ESPE2019

Use of Stored Serum in the Study of Time Trends and Geographical Differences in Exposure of Pregnant Women to Phthalates

Henriksen Louise , Mathiesen Barbara , Assens Maria , Krause Marianna , Skakkebæk Niels Erik , Juul Anders , Andersson Anna-Maria , Hart Roger , Newnham John , Keelan Jeffrey , Main Katharina , Pennell Craig , Frederiksen Hanne

Background: There is increasing evidence from epidemiological studies that some man-made chemicals present in the environment can disrupt endocrine homeostasis in exposed humans. Exposure during foetal life to e.g. phthalates has been linked to adverse effects on testicular and ovarian development, thyroid homeostasis and growth in postnatal life. Exposure to phthalates fluctuates not only from day to day but also over time which poses a major challenge for ex...

hrp0089fc7.3 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2018

Diazoxide-Induced Pulmonary Hypertension: UK Multicentre Retrospective Study on the Risk Factors, Monitoring Approach and Management Recommendations

Chen Suet Ching , Dastamani Antonia , Pintus Donatella , Yau Daphne , Aftab Sommayya , Bath Louise , Swinburne Craig , Hunter Lindsey , Giardini Alessandro , Christov Georgi , Senniappan Senthil , Banerjee Indraneel , Shaikh Guftar , Shah Pratik

Objectives: Diazoxide is first line treatment for hypoglycaemia due to hyperinsulinaemic hypoglycaemia (HH). However, the FDA has raised serious concerns regarding diazoxide-induced pulmonary hypertension (PH) in 2015. Although sporadic cases of PH have been reported, no HH cohort has been systematically characterised to understand severity and risk factors for diazoxide-induced PH.Methods: To investigate the onset, progress and associated factors in PH,...