hrp0098fc10.2 | Multisystem Endocrine Disorders | ESPE2024

Characterising the natural history of Multiple Endocrine Neoplasia 2B caused by M918T RET pathogenic variants in children and young people

McGlacken-Byrne Sinead , Butler Colin , Abdel Aziz Tarek , Izatt Louise , Brain Caroline , Kurzawinski Tom

Aim: We describe the natural history, treatment, and clinical outcomes of Multiple Endocrine Neoplasia type 2B (MEN2B) caused by the M918T RET pathogenic variant.Methods: Retrospective case notes review of all young people <18 years presenting to a quaternary paediatric endocrinology referral centre in the UK between 2005-2023 who have MEN2B caused by the M918T pathogenic variant in the RET proto-onc...

hrp0089rfc2.4 | Bone, Growth Plate &amp; Mineral Metabolism 1 | ESPE2018

Novel Severe Skeletal Dysplasia with Under-Mineralisation Associated with Reduced In Utero Calcium Transport and TRPV6 Compound Heterozygous Variants

Bowen Philippa , Caswell Richard , Castle Bruce , Welch C Ross , Hilliard Tom , Smithson Sarah , Ellard Sian , Burren Christine

Background: Fetal skeletal bone development and mineralisation depends on placental calcium transfer. Although Parathyroid Hormone (PTH) pathway has some contribution, TRPV6 (the sixth member of the Transient Receptor Potential Vanilloid family) is a recently identified receptor involved in calcium transport and is predominantly expressed in the placenta. It has not previously been linked with skeletal development disorders.Case: This infant had...

hrp0089fc9.5 | Pituitary, neuroendocrinology and Puberty 1 | ESPE2018

National Multidisciplinary Decision-Making Guideline for Children and Young People (Idiopathic Thickened Pituitary Stalk and/or Idiopathic Central Diabetes Insipidus

Cerbone Manuela , Bulwer Chloe , Ederies Ashraf , Vallabhaneni Kirtana , Ball Stephen , Kamaly Ian , Grossman Ashley , Gleeson Helena , Korbonits Marta , Nanduri Vasanta , Tziaferi Vaya , Jacques Tom , Visser Johannes , Spoudeas Helen A

Background: Thickening of the Pituitary Stalk (TPS) and/or Central Diabetes Insipidus (CDI) can occour in isolation or synchronously/metachronously in the same patient. Due to their rarity and wide spectrum of underlying aetiologies they represent a diagnostic and management conundrum.Aim: To develop a high-quality national multidisciplinary guideline for the assessment and management of children and young people (CYP) before their 19th birthd...

hrp0098p2-22 | Adrenals and HPA Axis | ESPE2024

Severe Adrenocortical Carcinoma Presentation with Vena Cava Involvement in a 1-Year-Old Boy: A Case Presentation and Management Considerations

Cvetković Dimitrije , Vuković Rade , Milenković Tatjana , Todorović Slađana , Mitrović Katarina , Panić Zarić Sanja , Čehić Maja , Đokić Dragomir , Redžić Danka , Aleksić Dragana , Radeta Ratko , Dattani Mehul , Mushtaq Imran , Jorgensen Mette , Muthialu Nagarajan , Watson Tom , Nguyen Trung

Introduction: Adrenocortical carcinoma (ACC) is a rare malignancy in children, presenting diagnostic and therapeutic challenges. This case report details the presentation, workup, and initial management of a highly aggressive ACC in a young infant.Case Presentation: A 12-month-old boy presented with premature pubarche. Parents also noticed rapid weight gain, increased body hair growth, and penile enlargement. Clinical pi...

hrp0092rfc3.1 | Multi-system Endocrine Disorders | ESPE2019

European Registries For Rare Endocrine Conditions (EuRRECa): Results From The Pilot Phase Of The Platform For e-Reporting Of Rare Endocrine Conditions (e-REC)

Ali Salma , Bryce Jillian , Muir Tom , Okure Akanimo , Cools Martine , Danne Thomas , Dattani Mehul , Dekkers Olaf , Hiort Olaf , Linglart Agnès , Netchine Irène , Nordenström Anna , Patócs Attila , Pereira Alberto , Persani Luca , Reisch Nicole , Smyth Arlene , Šumnik Zdeněk , Taruscio Domenica , Visser W. Edward , Ahmed S.Faisal

Background: EuRRECa (European Registries for Rare Endocrine Conditions) is a new project incorporating the development of a core endocrine registry and the development of an e-reporting programme for rare endocrine conditions (e-REC) that are covered within Endo-ERN (https://eurreca.net/e-rec/).Methods: 24 Endo-ERN centres within 12 countries participated in a pilot phase of e-REC...

hrp0092rfc11.1 | Pituitary, Neuroendocrinology and Puberty Session 2 | ESPE2019

National United Kingdom Evidence- and Consensus-Based Guidelines for the Investigation, Treatment and Long-Term Follow-Up of Paediatric Craniopharyngioma

Gan Hoong-Wei , Morillon Paul , Albanese Assunta , Aquilina Kristian , Barkas Konstantinos , Chandler Chris , Chang Yen-Ch'ng , Daousi Christina , Drimtzias Evangelos , Farndon Sarah , Jacques Tom , Korbonits Marta , Kuczynski Adam , Limond Jennifer , Robinson Louise , Simmons Ian , Thomas Nick , Thomas Sophie , Thorpe Nicola , Vargha-Khadem Faraneh , Warren Daniel , Zebian Bassel , Gamble Ashley , Wilne Sophie , Harrison Barney , Spoudeas Helen , Mallucci Conor

Aims: Although rare, craniopharyngiomas are the commonest suprasellar tumour in childhood. Despite high overall survival, children and young people <19 years with craniopharyngiomas are at risk of multiple relapses and long-term tumour- and treatment-related neuroendocrine, cognitive and visual morbidity. A recent international survey highlighted the considerable variation in management strategies employed for these tumours, and the lack of any evidence- a...

hrp0086wg3.4 | ESPE Turner Syndrome Working Group (TS) | ESPE2016

Face Perception in Turner Syndrome (TS)

Gepstein Vardit

Individuals with TS exhibit a distinct cognitive profile. They show deficits in visual-spatial and visual-motor skills, such as mental rotation, object assembly, design copying, visual memory and attention, deficits in arithmetic abilities, executive function, and some language aspects, such as verbal fluency. Other intellectual capacities, however, are preserved in TS, and in some domains, such as linguistic receptive and expressive abilities, performance is, at times, even s...

hrp0086fc6.6 | Syndromes: Mechanisms and Management | ESPE2016

Social Cognition Skills and Face Perception in Turner Syndrome (TS)

Gepstein Vardit , Anaki David , Zadikov Tal , Hochberg Ze'ev

Background: Patients with TS frequently demonstrate impairments in social cognition difficulties, visual-spatial processing, face and emotion perception.Objective and hypotheses: We examined face perception in the context of perceptual visual dysfunctions and social cognition skills in TS.Method: 26 young women with TS on estrogen replacement therapy, and 26 control participants. They were tested on various cognitive and psychologi...