hrp0089p1-p197 | Pituitary, Neuroendocrinology and Puberty P1 | ESPE2018

A Single Centre Experience of Managing a Series of Childhood Macro/Giant-Prolactinoma

Dastamani Antonia , Bulwer Chloe , Ederies Adhraf , Jeelani Owase , Fersht Naomi , Aquilina Kristian , Korbonits Marta , Spoudeas Helen

Introduction: Childhood prolactinomas often occur as aggressive macro (1–4 cm) or giant (>4 cm) tumours, with little consensus regarding timing of optimal therapies.Aim: To highlight the phenotype and treatment outcome of childhood macroprolactinomas.Subjects and methods: Case-note review of 10 (five male) children (<18 years) (presenting to our centre between 2009 and 2017 with hyperprolactinaemia due to macro/giant-p...

hrp0089p1-p198 | Pituitary, Neuroendocrinology and Puberty P1 | ESPE2018

A National UK Guideline for Managing Pituitary Adenomas in Children and Young People Under 19 Years Developed According to the AGREE II Framework

Blair Jo , Korbonits Marta , Ronaldson Amy , Dang Mary N , Spoudeas Helen

Pituitary adenomas are usually benign tumours arising from the hormone-secreting cells of the anterior pituitary gland. These adenomas can result in excess hormone secretion and the development of characteristic syndromes, such as Cushing’s disease, acromegaly and hyperprolactinaemia, and/or mass effects on surrounding vital structures causing for example visual disturbances and pituitary hormone deficiencies. In children and young people under 19 years (CYP), the managem...

hrp0089p3-p287 | Pituitary, Neuroendocrinology and Puberty P3 | ESPE2018

Invasive Macroprolactinoma with Cabergoline Induced Cerebrospinal Fluid Rhinorrhoea in Childhood

Dastamani Antonia , Ederies Ashraf , Aquilina Kristian , Dorward Neil , Korbonits Marta , Spoudeas Helen

Background: Nonsurgical development of nasal cerebrospinal fluid (CSF) leaks may occur in the setting of pituitary adenomas, especially following a favorable response of invasive prolactinomas to initiation of Dopamine Agonist (DA) therapy, but this has not previously described in children.Case description: A girl of Srilankan origin, aged 13.8 years, whose parents spoke no English, presented with headaches and secondary amenorrhea. Pituitary MRI reveale...

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...

hrp0089p1-p194 | Pituitary, Neuroendocrinology and Puberty P1 | ESPE2018

A 7-Year Update Report of a National, Interdisciplinary Endeavour to Improve Outcomes for Children and Young People Under 19 Years of Age with Hypothalamic Pituitary Axis Tumours (HPAT) Using Multi-site Video Conferencing

Freund Katja , Malhorta Neha , Dastamani Antonia , Dorward Neil , Aquilina Kristian , Chang Yen-Ching , Mankad Kshitij , Pettorini Benedetta , Blair J Jo , Kamaly Ian , Clayton Peter E , Hargrave Darren , Korbonits Marta , Spoudeas Helen A

Background: Paediatric HPAT, though generally benign, incurs significant neuro-endocrine morbidity. Their management is unclear and the paediatric neuro-oncology or adult pituitary forum at which they are discussed lack pituitary or age-specific expertise respectively. The UK National HPAT Interest Group has pioneered a monthly, multi-site, interdisciplinary, video conferencing decision-making forum, to garner necessary experience and evidence of outcomes to assist worldwide r...

hrp0082p2-d3-494 | Endocrine Oncology | ESPE2014

Three Year Experience of a National Interdisciplinary Initiative to Improve Outcomes for Children with Hypothalamic Pituitary Axis Tumours (HPATs) Using Multi-site Videoconferencing for Decision Making on Behalf of the UK HPAT Interest Group

Perelberg Daniel , Morillon Paul , Ederies Ash , Aquilina Kristan , Dorward Neil , Michalski Anton , Hargrave Darren , Chang Yen-Ching , Bozorgi Nillofar , James Samantha , Korbonits Marta , Drake William , Akker Scott , Mallucci Connor , Pizer Barry , Blair Jo , Kamaly Ian , Clayton Peter , Spoudeas Helen

Background: Childhood tumours of the hypothalamic pituitary axis (HPATs) are very rare and hence any single centre experience is limited. Without evidence-based guidance, treatment is individualised on a case basis. Survival rates are high, but at the expense of significant morbidity. Centralised care or wider multi-professional consultation may improve neuroendocrine and visual outcomes.Objective and hypotheses: i) To facilitate multi-professional dialo...

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...

hrp0092p1-157 | Adrenals and HPA Axis (1) | ESPE2019

Influence of Salt Supplementation on Drug Therapy in Children with Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency Aged 0-3 Years: Update on a Retrospective Multicentre Analysis Using the I-CAH Registry

Neumann Uta , van der Linde Annelieke , Krone Ruth , Guven Ayla , Güran Tülay , Elsedfy Heba , Darendeliler Feyza , Bachega Tania , Balsamo Antonio , Hannema Sabine , Birkebaek Niels , Vieites Ana , Acerini Carlo , Cools Martine , Milenkovic Tatjana , Bonfig Walter , Costa Eduardo , Atapattu Navoda , de Vries Liat , Filho Guilherme , Korbonits Marta , Mohnike Klaus , Bryce Jillian , Ahmed Faisal , Voet Bernard , Blankenstein Oliver , van der Grinten Hedi Claahsen

Introduction: Classic congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency results in impaired synthesis of gluco- and often also of mineralocorticoids. Early treatment with glucocorticoids and mineralocorticoids prevents life-threatening crises. In some centres, additional salt is prescribed in the first year. However, until now the use of salt is controversial and not proved to result in better outcome in studies.<s...

hrp0089fc14.1 | Multisystem Endocrine Disorders | ESPE2018

Awareness and Participation in Rare Disease Registries Within the European Reference Network on Rare Endocrine Conditions (Endo-ERN)

Ali Salma R , Bryce Jillian , Cools Martine , Korbonits Marta , Beun Johan G , Taruscio Domenica , Beuschlein Felix , Danne Thomas , Dattani Mehul , Dekkers Olaf , Linglart Agnes , Netchine Irene , Nordenstrom Anna , Patocs Attila , Persani Luca , Smyth Arlene , Sumnik Zdenek , Visser W Edward , Hiort Olaf , Pereira Alberto M , Ahmed S Faisal

Background: Registries are of key importance for a centre of expertise. Endo-ERN consists of 71 reference centres (RCs) that cover several groups of rare endocrine conditions within 8 themes (www.endo-ern.eu). It is unclear if awareness, participation and availability of registries is uniform for all conditions within Endo-ERN.Objective: To determine the extent of engagement in registries of Endo-ERN members.<p cl...

hrp0095p1-545 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

X-Linked Central Precocious Puberty Associated with MECP2 defects

Canton Ana , Tinano Flavia , Guasti Leonardo , Montenegro Luciana , Ryan Fiona , Shears Deborah , Edna Melo Maria , Gomes Larissa , Piana Mariana , Brauner Raja , Espino Rafael , Escribano-Muñoz Arancha , Paganoni Alyssa , Korbonits Marta , Eduardo Seraphim Carlos , Faria Aline , Costa Silvia , Cristina Krepischi Ana , Jorge Alexander , David Alessia , Argente Jesús , Mendonca Berenice , Brito Vinicius , Howard Sasha , Claudia Latronico Ana

Background: Genetic causes of central precocious puberty (CPP) has been increasingly recognized, extending our knowledge of the triggering factors of human pubertal timing. Distinct etiologies remain to be elucidated in sporadic and familial cases. Methyl-CpG-binding protein 2 (MECP2) is a chromatin-associated protein that can activate or repress gene transcription, playing a role in neuronal maturation. It is encoded by MECP2 gene located at chromoso...