hrp0097fc11.2 | GH and IGFs | ESPE2023

Clinical characteristics of heterozygous ACAN gene variants and longer-term response to growth hormone treatment: real-world data

Renes Judith , Reedijk Ardine , Losekoot Monique , Kant Sarina , van der Steen Manouk , van der Kaay Danielle , Hokken-Koelega Anita , van Duyvenvoorde Hermine , de Bruin Christiaan

Background: Heterozygous pathogenic variants in the ACAN gene underlie disproportionate short stature with characteristically accelerated bone age (BA) maturation and/or osteochondritis dissecans (OD)/early-onset osteoarthritis (OA).Objective: To describe the phenotypic spectrum and assess the response and safety of growth hormone (GH) treatment in children with a heterozygous pathogenic ACAN variant.</...

hrp0097p1-119 | Growth and Syndromes | ESPE2023

Clinical features and response to rhGH treatment in ten patients with heterozygous IGF1 variants

Punt Lauren , van der Kaay Danielle , van Setten Petra , Bocco Gianni , de Munnik Sonja , Losekoot Monique , van Duyvenvoorde Hermine , de Bruin Christiaan , Maarten Wit Jan , Joustra Sjoerd

Introduction: Patients carrying homozygous IGF1 loss-of-function mutations are extremely rare and show severe pre- and postnatal growth failure, microcephaly, developmental delay, retrognathia and sensorineural deafness. Heterozygous variants in IGF1 appear to be more common in short stature, but only few cases have been reported in detail. Therefore, clinical features and growth response to recombinant human growth hormone (rhGH) therapy are...

hrp0095p1-273 | Fat, Metabolism and Obesity | ESPE2022

An adult-based genetic risk score for hepatic fat associates with liver and lipid traits in Danish children

Huang Yun , E. Stinson Sara , Bæk Juel Helene , A.V. Lund Morten , Aas Holm Louise , E. Fonvig Cilius , Grarup Niels , Pedersen Oluf , Christiansen Michael , Krag Aleksander , Stender Stefan , Holm Jens-Christian , Hansen Torben

Background and Aim: Several genetic variants associating with hepatic fat content in adults have been identified in genome-wide association studies. Their effects in children remain unclear. This study aimed to test the effect of genetic variants known to associate with hepatic fat in adults, individually and combined as a genetic risk score (GRS), on cardiometabolic traits, and to investigate the predictive ability of the GRS for hepatic steatosis in children...

hrp0084fc1.6 | Adrenal | ESPE2015

An Update on Noninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia Using Cell-free Foetal DNA in Maternal Plasma

New Maria , Tong Yu , Jiang Peiyong , Pina Christian , Chan K C Allen , Khattab Ahmed , Liao Gary J W , Yau Mabel , Kim Se-Min , Chiu Rossa W K , Sun Li , Zaidi Mone , Lo Y M Dennis

Background: Congenital adrenal hyperplasia (CAH) arises from mutations in CYP21A2 gene, which encodes for the steroidogenic enzyme 21-hydroxylase. Currently employed chorionic villus sampling and amniocentesis provide genetic results at ~14 weeks of gestation at the earliest. At this time, the genitalia of the affected female foetuses have already become virilized. To prevent genital ambiguity, prenatal treatment with dexamethasone must begin on or before gestational ...

hrp0094p1-58 | Bone B | ESPE2021

AAV liver gene therapy-mediated inhibition of FGF23 signaling as a therapeutic strategy for X-linked hypophosphatemia

Zhukouskaya Volha , Jauze Louisa , Charles Severine , Leborgne Christian , Hilliquin Stephane , Sadoine Jeremy , Slimani Lotfi , Baroukh Brigitte , Wittenberghe Laetitia van , Daniele Natalie , Rajas Fabienne , Linglart Agnes , Mingozzi Federico , Chaussain Catherine , Bardet Claire , Ronzitti Giuseppe ,

Adeno-associated virus (AAV) gene therapy reached the maturity and a liver-targeting approach is currently used as a replacement treatment for rare hepatic and muscular diseases. X-linked hypophosphatemia (XLH) is a rare disease associated with hyperfunction of fibroblast growth factor 23 (FGF23) in bone and characterized by severe skeletal deformities and short stature. The current medical therapies for XLH requires life-long repeated treatment presenting major limitatio...

hrp0094p2-397 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Vascular dysfunction and increased cardiovascular risk in hypospadias

Lucas-Herald Angela K , C Montezano Augusto , Alves-Lopes Rheure , Haddow Laura , Alimussina Malika , O’Toole Stuart , Flett Martyn , Lee Boma , Basith Amjad S , Steven Mairi , Brooksbank Katriona , McCallum Linsay , Delles Christian , Padmanabhan Sandosh , Faisal Ahmed S , Touyz Rhian ,

Background: Hypogonadism has been associated with cardiovascular disease. However, little is known about the cardiovascular impact of hypogonadism during development. Using hypospadias as a surrogate of hypogonadism, we investigated whether hypospadias is associated with vascular dysfunction during childhood and whether it is a risk factor for adult cardiovascular disease.Methods: Our human study spanned molecular mechan...

hrp0098p1-296 | Late Breaking 1 | ESPE2024

Evaluating Setmelanotide Treatment for 12 Months in Pediatric Age Groups With Rare Melanocortin-4 Receptor Pathway–Related Obesity: Efficacy in Weight Reduction and Safety Outcomes

Kühnen Peter , L. T. van den Akker Erica , H. Shoemaker Ashley , Okorie Uzoma , F. Verge Charles , Fennoy Ilene , M. Kelsey Megan , M. Haqq Andrea , L. Roth Christian , C. Garrison Jill , Wabitsch Martin , Farooqi Sadaf , Argente Jesús

Objectives: Hyperphagia and severe obesity may result from impaired melanocortin-4 receptor (MC4R) signaling due to rare biallelic variants in POMC or PCSK1 (proopiomelanocortin [POMC] deficiency) or LEPR (leptin receptor [LEPR] deficiency), Bardet-Biedl syndrome (BBS) or acquired hypothalamic obesity (HO). Previously, setmelanotide in patients aged 2-17 years was well tolerated and improved weight-related measures and hunger severit...

hrp0089p1-p196 | Pituitary, Neuroendocrinology and Puberty P1 | ESPE2018

Endocrine Follow-up of Children with a History of Brain Tumour: Data from Our Large Cohort at Necker University Hospital, Paris, 2010–2015

Briceno Laura Gabriela Gonzalez , Samara-Boustani Dinane , Beltrand Jacques , Grill Jacques , Puget Stephanie , Dufour Christelle , Sainte-Rose Christian , Alapetite Claire , Pinto Graziella , Touraine Philippe , Valteau-Couant Dominique , Kariyawasam Dulanjalee , Aerts Isabelle , Beccaria Kevin , Bourgeois Marie , Roujeau Thomas , Blauwblomme Thomas , Rocco Federico Di , Thalassinos Caroline , Zerah Michel , Pauwels Christian , Brugieres Laurence , James Syril , Busiah Kanetee , Simon Albane , Bourdeaut Franck , Bolle Stephanie , Fresneau Brice , Michon Jean , Orbach Daniel , Guerrini-Rousseau Lea , Doz Francois , Polak Michel

Background: Brain tumours are the most frequent solid tumours during childhood. Many of these patients develop endocrine disorders.Objective: To describe our cohort of patients with primary brain tumours, followed in the Pediatric Endocrinology Unit at Hôpital Universitaire Necker–Enfants Malades, Paris, France between 2010–2015, to assess current practice and propose recommendations.Methods: Retrospective a...

hrp0094p1-185 | Pituitary B | ESPE2021

Puberty and pituitary-gonadal axis function after treatment for a childhood brain tumor

Rosimont Manon , Kariyawasam Dulanjalee , Samara-Boustani Dinane , Giani Elisa , Beltrand Jacques , Bolle Stephanie , Fresneau Brice , Puget Stephanie , Sainte-Rose Christian , Alapetite Claire , Pinto Graziella , Piketty Marie-Liesse , Brabant Severine , Abbou Samuel , Aerts Isabelle , Beccaria Kevin , Bourgeois Marie , Roujeau Thomas , Blauwblomme Thomas , Di Rocco Frederico , Thalassinos Caroline , Zerah Michel , Pauwels Christian , Rigaud Charlotte , James Syril , Busiah Kanetee , Simon Albanne , Bourdeaut Franck , Lemelle Lauriane , Guerrini-Rousseau Lea , Orbach Daniel , Touraine Philippe , Doz Francois , Dufour Christelle , Grill Jacques , Polak Michel , G. Gonzalez Briceno Laura ,

Introduction: Primary brain tumors are the second most common childhood malignancies, with an increasing survival rate over the years. Late effects on puberty and fertility alter survivors’ quality of life.Methods: We included 204 patients diagnosed with a primary brain tumor before 18 years, followed in pediatric endocrinology at the University Hospital “Necker-Enfants Malades” in Paris between January 20...

hrp0095p1-581 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

A case series of granulosa cell tumors of the ovary

Giuca Diandra , Dumitru Niculina , Scurtu Cristian , Vladoiu Suzana , Dumitrica Alina , Boboc Madalina , Procopiuc Camelia , Gherlan Iuliana

Introduction: Granulosa cell tumors (GSTs) of ovary are very rare, usually large gonadic neoplasms arising from the mesenchyme and sex cords. The main clinical appearance of the juvenile GCTs is represented of signs of excessive estrogen (Precocious puberty - 75% of cases) or testosterone secretion (rare).Aim: To present the different clinical presentation and outcome in a case series of a rare tumor patients.<p clas...