hrp0094p1-190 | Pituitary B | ESPE2021

Six novel variants in the MKRN3 gene causing central precocious puberty: characteristics of ten patients and their affected relatives

Gernay Caroline , Brachet Cecile , Tenoutasse Sylvie , Boros Emese , Libioulle Cecile , Heinrichs Claudine ,

Background: In 2013, Abreu et al identified loss-of function mutation in the MKRN3 gene of fifteen patients from five families with idiopathic central precocious puberty (iCPP), highlighting the implication of this maternally imprinted gene in this still poorly understood condition. Since this study, other mutations have been described and now represent the most common genetic cause of iCPP.Objective: The objective of th...

hrp0094p2-125 | Diabetes and insulin | ESPE2021

Focal Congenital Hyperinsulinism in Infancy is Directly Linked to Increased Numbers of Islet Pancreatic Polypeptide Cells in Islets.

Banerjee Indraneel , Worth Chris , Salomon-Estebanez Maria , Yau Daphne , Jabbar Shamila , Hall Caroline , Dunne Mark ,

Congenital Hyperinsulinism (CHI) is primarily associated with defects in the regulated release of insulin from ß-cells but little information is available about the role of other islet cell types. Pancreatic polypeptide (PP) cells represent a minor component of the islet endocrine cell population. PP causes satiety, decreases gastrointestinal tract motility and suppresses glucagon release. Since CHI is associated with feeding problems and loss of glucagon-mediated counter...

hrp0094p2-150 | Diabetes and insulin | ESPE2021

PIMS-TS [Paediatric Inflammatory Multisystem Syndrome Temporally associated with SARS-CoV-2 (Covid-19)] in a child with new onset type 2 diabetes

Sakka Sophia , Mohan Meena , Price Abigail , Handforth Jennifer , Wong James , Nyman Andrew , Ponmani Caroline ,

Introduction: PIMS-TS [Paediatric Inflammatory Multisystem Syndrome Temporally associated with SARS-CoV-2] is a unique clinical complication of COVID -19 infection in paediatric patients. We report a case of a child presenting with PIMS-TS and new onset type 2 diabetes.Presentation: A previously healthy 15 year old boy of Bengali-Indian origin presented to the hospital with polyuria, polydipsia, dry cough, abdominal pain and 1 episode of...

hrp0094p2-263 | Growth hormone and IGFs | ESPE2021

Pituitary gland volume measured by Magnetic Resonance Imaging as diagnostic predictor of persistent Childhood-onset growth hormone deficiency

Corredor-Andres Beatriz , Walton-Betancourth Sandra , Brain Caroline , Butler Gary , Hindmarsh Peter , Dattani Mehul ,

Introduction: Pituitary imaging is important for the evaluation of hypothalamo-pituitary axis defects in patients diagnosed with childhood-onset growth hormone deficiency (CO-GHD). Published evidence shows that there is a close relationship between structural changes in the pituitary gland and growth hormone deficiency.Aim: To evaluate the relationship between clinical, laboratory and magnetic resonance imaging of the pi...

hrp0094p2-283 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Assessment of genetic defects, baseline characteristics and adverse events reported in the Increlex® registry

Polak Michel , Bang Peter , Perrot Valerie , Sert Caroline , Storr Helen L. , Woelfle Joachim ,

Background: Certain genetic defects in the growth hormone (GH)/insulin-like growth factor 1 (IGF-1) axis are associated with severe primary IGF-1 deficiency (SPIGFD) and short stature. Detection of genetic defects may confirm short stature aetiology alongside clinical/biochemical features. Increlex® is a recombinant human IGF-1 (rhIGF-1) approved for children/adolescents with SPIGFD.Methods: The Increlex<...

hrp0097fc12.1 | Thyroid | ESPE2023

Graves’ disease – are we just delaying the inevitable?

Stevens Chloe , Langham Shirley , Amin Rakesh , T Dattani Mehul , E Brain Caroline , J Peters Catherine

Background: The incidence of Graves’ disease in patients aged <15 years is estimated at 0.9 per 100,000. Parental anxiety around definitive treatment, timing of this around schooling and clinician confidence in long-term medical treatment often results in prolonged medical management. This audit aimed to assess the rates of remission, timing of definitive treatment and long-term medical management in children managed for Graves’ at a UK tertiary...

hrp0095fc7.6 | Growth and Syndromes | ESPE2022

The Multifaceted Burden Experienced by Caregivers of Individuals With Bardet-Biedl Syndrome: Findings from the CARE-BBS Study

Forsythe Elizabeth , Mallya Usha M. , Yang Min , Caroline , Lynn Mary , Grea Ali , Po Jeremy , Haqq Andrea M.

Background: Caregivers of patients with Bardet Biedl syndrome (BBS) face substantial burden from highly prevalent features of the disease, namely hyperphagia, or uncontrollable hunger, and obesity. However, the burden experienced by caregivers of individuals with BBS is not well characterized.Methods: A multicountry cross-sectional survey of caregivers of individuals with BBS was conducted to quantify the burden experien...

hrp0095t8 | Section | ESPE2022

Caregiver Burden in Bardet-Biedl Syndrome: a Survey of Obesity and Hyperphagia Impacts

Forsythe Elizabeth , G. Mallya Usha , Yang Min , Huber Caroline , Lynn Cala Mary , Greatsinger Ali , Pomeroy Jeremy , M. Haqq Andrea

Background: Hyperphagia, or pathologic insatiable hunger, and early-onset obesity are prevalent clinical features of Bardet-Biedl syndrome (BBS), a rare genetic disorder. While hyperphagia and obesity have broad impacts on individuals with BBS and their caregivers, the extent of this burden is not well characterized.Methods: This multicountry cross-sectional survey of caregivers of individuals with BBS was conducted to q...

hrp0089rfc12.6 | Diabetes and Insulin 2 | ESPE2018

AMGLIDIA, a Suspension of Glibenclamide for Patients with Neonatal Diabetes, Long Term Data on Efficiency and Tolerance

Beltrand Jacques , Meyzer Candice , Colas Sandra , Semeraro Michaela , Godot Cecile , Treluyer Jean-Marc , Elie Caroline , Polak Michel

Background: Glibenclamide has proven to be efficient for patients with neonatal diabetes owing to potassium channel mutations. We developed a suspension of glibenclamide (EMA CHMP Authorization February 2018) fitting recommendations of drug administration to allow a precise dosage. We reported it to be practical, efficient and well tolerated after 3 months of use.Objective: To determine long term efficiency and tolerance of a new suspension of glibenclam...

hrp0086p1-p98 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Knock in of the Recurrent R368X Mutation of PRKAR1A that Represses cAMP-dependent Protein Kinase A Activation: A Model of Acrodysostosis Type 1?

Le Stunff Catherine , Tilotta Francoise , Sadoine Jeremy , Le Denmat Dominique , Clauser Eric , Bougneres Pierre , Chaussain Catherine , Silve Caroline

Background: In humans, activating mutations in the PRKAR1A gene cause acrodysostosis1 (ACRDYS1). Two striking features of this rare developmental and skeletal disorder are renal resistance to PTH and chondrodysplasia resulting from the constitutive inhibition of PTHR1/Gsa/AC/cAMP/PKA signaling caused by the PRKAR1A mutations.Objective and hypotheses: Document the consequences of the germline expression of a PRKAR1A mutation causing a dominant repression ...