hrp0097fc7.4 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2023

The effect of common genetic variants in CYP19A1 on serum Estradiol to Testosterone Ratio in healthy Danish children and adolescents

L. R. Groendahl Veronica , A. Holmboe Stine , S. Busch Alexander , Aksglaede Lise , P. Hagen Casper , H. Johannsen Trine , H. Petersen Jørgen , Almstrup Kristian , Frederiksen Hanne , Juul Anders

Background and Aim: Despite the broad individual variation of pubertal maturation, references traditionally describe growth in relation to just chronological age and not biological age. Hence, growth references for the adolescent period have been of limited usefulness for monitoring individual growth in clinic and for research. Especially for children and adolescents with chronic diseases is there a need to better evaluate if changes in SD-scores just before a...

hrp0082ha2 | Pubertal onset in girls is strongly influenced by genetic variation in promoters affecting FSH action | ESPE2014

Pubertal Onset in Girls is Strongly Influenced by Genetic Variation in Promoters Affecting FSH Action

Hagen Casper P , Sorensen Kaspar , Aksglaede Lise , Mouritsen Annette , Mieritz Mikkel G , Tinggaard Jeanette , Wohlfart-Veje Christine , Petersen Jorgen H , Main Katharina M , Meyts Ewa Rajpert-De , Almstrup Kristian , Juul Anders

Background: FSH stimulates ovarian follicle maturation and estradiol synthesis which is responsible for breast development. Age at pubertal onset varies substantially among healthy girls. Although more than half of the variation is heritable, only a small part has been attributed to specific genetic polymorphisms identified so far.Objective and Hypotheses: We assessed the effect on pubertal onset of three genetic polymorphisms affecting FSH action.<p...

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...

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...

hrp0086rfc3.5 | Pituitary | ESPE2016

Prospective Dynamic Evaluation of Hypothalamo-Pituitary Function in 30 Cases of Paediatric Craniopharyngioma, by Hypothalamic Injury and Treatment; A Single Centre Series

Guzzetti Chiara , Losa Laura , Improda Nicola , Pang Gloria , Phatarakijnirund Voraluck , Gan Hoong-Wei , Hayward Richard , Aquilina Kristian , Ederies Ash , Spoudeas Helen A.

Background: Craniopharyngiomas are the commonest pituitary tumours of childhood. Though benign histologically, their localisation and invasive tendency can cause significant neuroendocrine morbidity and late mortality.Objective and hypotheses: To prospectively determine risk factors for neuroendocrine morbidity by longitudinal survival analysis.Method: All children with craniopharyngioma newly presenting to our quaternary centre be...

hrp0094p2-97 | Bone, growth plate and mineral metabolism | ESPE2021

Hungry Bone Syndrome associated to Rickets

Jimenez Catalina , Seiltgens Cristian ,

Introduction: Hereditary causes of rickets often take longer to be diagnosed because they are not very frequent. 1α-hydroxylase alteration is the most frequent vitamin D-dependent rickets. A delay in the treatment associated to a late diagnosis generates an abrupt parathormone deficiency. When initiating treatment, these patients have a risk of hungry bone syndrome.Case: 2-year-8-month-old male patient, with a history of psychomotor...

hrp0084p3-696 | Diabetes | ESPE2015

Influence of hypoglycemic episodes on attention and behavioural abnormalities in diabetic children

Wurm Michael , Niebuhr Vera , Hallermann Kristiane , Krause Alexandra , van der Werf-Grohmann Natascha , Schwab Karl Otfried

Background: Type 1 diabetes may have an influence on concentration, attention and behaviour. These effects are relevant, as they may affect school performance and later career options for paediatric diabetes patients.Objective and hypotheses: This study examined attention, concentration and behavioural difficulties in diabetic children aged 5–13 years and their association with hypoglycaemic episodes and HbA1c.Method: 48 child...

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...

hrp0092p2-278 | Thyroid | ESPE2019

A 10- Year-Old Girl with Thyroid Hormone Resistance (βTHR)- Case Report

Bossowski Artur , Michalak Justyna , Sawicka Beata , Sanczyk Hanna Borysewicz- , Kolanowska Monika , Kubiak Anna , Jazdzewski Krystian

Introduction: Thyroid hormone resistance (THR) is a rare syndrome which is characterized by reduced response to thyroid hormones at tissue level. The disorder is caused by genetic mutation in the thyroid hormone receptor. The most common are a heterozygous thyroid hormone β (THRβ) gene mutations. Laboratory tests usually show normal or elevated level of thyroid- stimulating hormone (TSH) and high concentration of thyroid hormones (T3 and T4).<p c...

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...