hrp0094p1-153 | Fetal Endocrinology and Multisystem Disorders B | ESPE2021

Different faces of minipuberty in preterm twin girls

Pepe Giorgia , Calafiore Mariarosa , Velletri Maria Rosa , Mondello Isabella , Pomi Alessandra Li , Wasniewska Malgorzata ,

Background: minipuberty (MP) consists in a postnatal activation of hypothalamic-pituitary-gonadal (HPG) axis, which occurs physiologically in both sexes during the first months of life. FSH and LH peak between 1 and 3 months, stimulating sex hormones secretion. In preterm infants, MP might lead to a stronger and more protracted hormonal stimulation, even if specific literature data are limited and not univocal. Immaturity of the hypothalamic feedback has been ...

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 & 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 ...

hrp0086p1-p725 | Pituitary and Neuroendocrinology P1 | ESPE2016

Metabolic and Pubertal Alterations in Children with Narcolepsy-Cataplexy

Villanueva Carine , Verier-Weulersse Caroline , Guyon Aurore , Nicolino Marc , Lin Jian-Sheng , Inocente Clara Odilia , Franco Patricia

Objective: To study the effect of orexin deficiency on metabolic and pubertal characteristics in narcoleptic children, we compared the metabolic and pubertal alterations between 15 children with narcolepsy with cataplexy (NC) and 15 control children matched for age, body mass index (BMI) z score.Method: Narcoleptic data were collected from the Reference Center for Narcolepsy and control common obese data from the department of pediatric endocrinology in ...

hrp0086p1-p820 | Syndromes: Mechanisms and Management P1 | ESPE2016

International Cooperative Growth Study, NutropinAq® European Registry (iNCGS): Countries Specificities

Coutant Regis , Chiarelli Francesco , Munoz Jordi Bosch , Dumitrescu Cristina , Schnabel Dirk , Sert Caroline , Perrot Valerie , Dattani Mehul

Background: The European iNCGS registry aims to collect long-term safety and effectiveness information in paediatric patients receiving NutropinAq® for growth failure.Objective and hypotheses: To report patient baseline characteristics and exposure to NutropinAq® per country.Method: International, multicentre, open-label, non-interventional, post-marketing-surveillance study.Results: As of 31-Dec-20...

hrp0084p2-323 | DSD | ESPE2015

Chromosomal Variations in Children and Adolescents with Gender Dysphoria: Is Routine Karyotyping Indicated?

Goedhart Claire , Brain Caroline , Viner Russell M , Alvi Sabah , Mushtaq Talat , Walker Jenny , Carmichael Polly , Butler Gary

Background: Chromosome analysis is always indicated in disorders of sex development (DSD), but the need for karyotyping in gender dysphoria (GD) is less clear.Aims and objectives: We therefore aimed to review the place of routine chromosome analysis in the management of GD in children and adolescents.Patients and methods: 490 children and adolescents with GD have been referred to the two endocrine clinics forming part of the joint ...

hrp0084p3-877 | Fat | ESPE2015

Higher Hb1Ac in Obese Prader-Willi Syndrome Patients vs Obese Controls

Passone Caroline , dos Santos Tiago Jeronimo , Ito Simone Sakura , Ybarra Marina , Cominato Louise , Franco Ruth , Damiani Durval

Background: Obesity in Prader-Willi Syndrome has peculiar features associated to reduced lean body mass which could confer different metabolic characteristics.Objective and hypotheses: The aim of this study is to describe and to compare the metabolic profile in obese patients and obese Prader-Willi syndrome patients (OPWS) followed in a Pediatric Endocrinology outpatient clinic.Method: 45 obese and 22 OPWS patients between 8 and 20...

hrp0094p1-24 | Diabetes A | ESPE2021

Resolution of feeding problems in patients with congenital hyperinsulinism

Worth Chris , Hall Caroline , Wilson Sarah , Gilligan Niamh , O’Shea Elaine , Salomon-Estebanez Maria , Dunne Mark , Banerjee Indraneel ,

Background: Congenital Hyperinsulinism (CHI) is the most common cause of recurrent and severe hypoglycaemia in childhood and can be broadly categorised into two subtypes. Diffuse CHI (CHI-D) involving all pancreatic cells is usually treated with medications and rarely subtotal pancreatectomy. Focal CHI (CHI-F) involves a solitary insulin hypersecreting pancreatic lesion and can be cured following surgical lesionectomy. Many patients with CHI-F and CHI-D underg...