hrp0084p3-586 | Adrenals | ESPE2015

Longitudinal Changes During Prepubertal Years in Visceral Fat and Steroid Hormones – SGA vs AGA Children

Ankarberg-Lindgren Carina , Andersson Mats X , Karlsson Ann-Katrine , Dahlgren Jovanna

Background: Small for gestational age (SGA) children have reportedly increased DHEAS levels during prepubertal years. However, steroid hormones have not been followed longitudinally in a healthy population compared to body composition.Aims and objectives: To evaluate steroid hormone patterns in prepubertal children correlated to visceral fat measures.Methods: Body composition was investigated with magnetic resonance (MR) of truncal...

hrp0084p3-945 | GH & IGF | ESPE2015

As Great Intra as Interindividual Variability in Uptake of s.c. GH Injections in Longitudinally Followed GH Treated Children

Lundberg Elena , Kristrom Berit , Andersson Bjorn , Rosberg Sten , Albertsson-Wikland Kerstin

Background: The variation in uptake of daily sc GH-injections is hardly known.Objective and hypotheses: There is a considerable variability in uptake of s.c. GH-injections both within and between children.Method: 65 children used (Genotropin® pen 4/16, needle 12 mm), dose 0.08–0.14 mU/kg per day within trials: TRN 87–010; 88–080; 88–177; followed yearly two–eight times 1992–1999 (n=214). ...

hrp0097rfc9.2 | Diabetes and insulin 2 | ESPE2023

Two new candidate genes, OGDH and FGFR1 discovered in an insulinoma from a fifteen-year-old male

Andersen Kirstine , Brusgaard Klaus , Detlefsen Sönke , Christesen Henrik

The present study aimed to determine the mutational and molecular landscape of a 17 mm insulinoma from a fifteen-year-old male. Using targeted exome sequencing and microarray, we investigated somatic candidates in the insulinoma. The microarray analysis was conducted using 12 other insulinomas as a control group and revealed a total of 1907 differentially expressed genes (P-value < 0.05, FDR P-value < 0.05). After thorough gene variant filtering, we ide...

hrp0089fc8.2 | Sex differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2018

Partial Restoration of Biological Effects of Estrogen in a Female with Estrogen Receptor α Variant

Feigerlova Eva , Laurell Henrik , Mittre Herve , Kottler Marie-Laure , Deshayes Marc , Balaguer Patrick , Bourget William , Arnal Jean-Francois , Marechaud Richard , Hadjadj Samy , Gourdy Pierre

Introduction: Rare mutations of the ESR1gene, encoding the estrogen receptor alpha (ERα), have been shown to cause estrogen resistance in humans. To date, there are no effective therapeutic options. We report the case of a new inactivating mutation of ERα and provide evidence for a partial restoration of biological effects of estrogen.Methods: We performed clinical and biological phenotyping of the index case and sequenced the ESR1...

hrp0089fc9.6 | Pituitary, neuroendocrinology and Puberty 1 | ESPE2018

National UK Guidelines for Screening, Multi-Disciplinary Team Management and Long-Term Follow-Up of Children and Young People (CYP) with Multiple Endocrine Neoplasia Type 1 (MEN1)

Crowne Elizabeth , Prasad Rathi , Newey Paul , Bradley Karin , Charnley Richard , Doran Helen , Callaway Mark , Mayhew Jonathan , Shine Brian , Izatt Louise , Spoudeas Helen , Harrison Barney

Background: The management of MEN1 in CYP<19 years is challenging due to its rarity, and diverse presentations of its component tumours to several adult and paediatric medical and surgical specialists. There is little high quality evidence for treatment recommendations.Aim: To ensure age- and tumour-specific paediatric and adult teams are involved in co-ordinated discussions to improve high quality care and hence survival and reduce long term morbidi...

hrp0089p2-p020 | Adrenals and HPA Axis P2 | ESPE2018

Long-term Follow-up of Safety and Disease Control for Hydrocortisone Granules Designed to give Age-appropriate Dosing with Taste Masking to Children with Adrenal Insufficiency

Neumann Uta , Braune Katarina , Whitaker Martin , Wiegand Susanna , Krude Heiko , Porter John , Digweed Dena , Voet Bernard , Ross Richard , Davies Madhu , Blankenstein Oliver

Context: Alkindi® (Hydrocortisone Granules, Diurnal Ltd, UK), was recently licensed for oral administration to children with adrenal insufficiency (AI) from birth to 18 years. Previously, children received compounded hydrocortisone to achieve age appropriate dosing, however almost 25% of batches were out of specification for mass and content uniformity and clinically evident under- and over-dosing was reported.Objectives: Primary: long-te...

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...

hrp0086rfc15.1 | Late Breaking | ESPE2016

A Novel Homozygous Mutation in the Domain AF-2 of Alpha Estrogen Receptor Gene (ESR1), Generating a Bio-Inactive ERα Mutant, Resulting in Estrogen Resistance with Complex Metabolic Phenotype

Feigerlova Eva , Laurell Henrik , Mittre Herve , Kottler Marie-Laure , Deshayes Marc , Balaguyer Patrick , Arnal Jean-Francois , Marechaud Richard , Hadjadj Samy , Gourdy Pierre

Context: The mouse ERα−/− knock-out model and rare human ESR1 gene mutations identified to date have demonstrated crucial role of ERα in control of energy homeostasis and glucose metabolism. Subjects with ERα deficiency show features of estrogen resistance (ESTRR) with continuous linear growth in adulthood.Patient: We describe a 20-year-old female, with unknown family history, who presented...

hrp0086p1-p688 | Endocrinology and Multisystemic Diseases P1 | ESPE2016

Thyrotoxicosis, Nephrogenic Syndrome of Inappropriate Antidiuresis, Tall Stature and Mental Retardation Caused by a Novel GNAS Gain of Function Mutation

Houang Muriel , Kottler Marie-Laure , Bensman Albert , Haymann Jean-Philippe , Richard Nicolas , Dunand Olivier , Bastepe Murate , Silve Caroline , Coudray Nathalie , Netchine Irene , Linglart Agnes

Background: Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a very rare clinical condition. Patients suffer from hyponatremia, hypo-osmolality with inappropriately elevated urinary osmolality and undetectable AVP levels. Activating mutations of AVPR2, the vasopressin receptor type 2 (V2R), induce a prolonged signaling of the intracellular cAMP/PKA pathway and cause NSIAD in patients.Objective and hypotheses: To describe a new phenotype in a...

hrp0094fc6.4 | Bone and Mineral Metabolism | ESPE2021

Use of Aids, Assistive Devices and Adaptations (AADAs) by Individuals Aged <25 Years with Fibrodysplasia Ossificans Progressiva (FOP): 36-Month Results from a Global Natural History Study (NHS)

Hsiao Edward C. , Pignolo Robert J. , Baujat Genevieve , Brown Matthew A. , De Cunto Carmen , Keen Richard , Mukaddam Mona Al , Marino Rose , Houchard Aude , Kaplan Frederick S. ,

Background: Individuals with the ultra-rare genetic disorder FOP experience progressive heterotopic ossification. Median age at diagnosis is 5 years; patients are supported by multiple specialties. Most patients become immobilised by the third decade of life, requiring lifelong assistance. We characterise AADA use as an indicator of disease severity in younger individuals with FOP enrolled in a 36-month, prospective, global NHS (NCT02322255).<p class="abst...