hrp0098p1-99 | Thyroid 1 | ESPE2024

Transient congenital hypothyroidism in a newborn with congenital goiter and compound heterozygosity for thyroglobulin

Nauwynck Elise , Gheldof Alexander , Vanden Eynde Nathalie , Vanbesien Jesse , Depoorter Sylvia , Oosterlynck Caroline , Staels Willem , Gies Inge , De Schepper Jean

Background & aim: Biallelic thyroglobulin (TG) gene variants can cause congenital hypothyroidism (CH), usually presenting with neonatal goiter and permanent in duration. In cases where biallelic truncating TG variants are present, serum TG levels are undetectable, while monoallelic or biallelic missense mutations manifest with circulating TG. Here, we present a case of transient CH resulting from TG deficiency, stemming from compound heterozygosity for a m...

hrp0086p1-p366 | Gonads & DSD P1 | ESPE2016

Consecutive Lynestrenol and Cross-Sex Hormone Treatment in Biological Female Adolescents with Gender Dysphoria: A Retrospective Analysis

Tack Lloyd , Craen Margarita , Dhondt Karlien , Vanden Bossche Heidi , Laridaen Jolien , Cools Martine

Background: Progestins such as lynestrenol (L) can be used in female to male (FtM) adolescents with gender dysphoria (GD) who have advanced pubertal development to reduce the psychological burden of menstruation. L can later be combined with cross-sex hormones (testosterone esters) (L+T). L is much cheaper and easier to administer than GnRHa. To date, few data exist on the (side) effects of progestins for this indication.Objective and hypotheses: To repo...

hrp0086p1-p372 | Gonads & DSD P1 | ESPE2016

Effects and Side Effects of Cyproterone Acetate Alone and in Combination with Estrogens in Natal Male Adolescents with Gender Dysphoria

Tack Lloyd , Craen Margarita , Dhondt Karlien , Bossche Heidi Vanden , Laridaen Jolien , Cools Martine

Background: Male to female (MtF) gender dysphoric adolescents with advanced pubertal development can be treated with antiandrogenic progestins such as cyproterone acetate (CA). CA is much cheaper and easier to administer than GnRHa and can later be combined with cross-sex hormones (17β-estradiol) (CA+E). To date, few data exist on the (side) effects of progestins for this indication.Objective and hypotheses: To report the effects of consecutive CA a...

hrp0086p2-p670 | Growth P2 | ESPE2016

A New Reusable Manual Pen Device for Injection of Human Growth Hormone: Results of a Convenience and Functionality Evaluation Study

Sauer Maritta , Castel Marie-Nathalie

Background: This multi-country study, conducted in the USA, is also ongoing in France, Germany, Brazil and South Korea (52 healthcare professionals (HCPs) and 30 patients/caregivers in total). The new device consists of a reusable aluminium body and cap, with a multi-use cartridge system, viewing window, dose-display window, dose-selection knob and injection button.Method: Semi-structured 60-min qualitative interviews were conducted in six major US citie...

hrp0094p2-180 | Fat, metabolism and obesity | ESPE2021

Impact of the COVID-19 pandemic and related lockdown measures on lifestyle behaviours and quality of life in children and adolescents with severe obesity

Welling MS , Abawi O , van den Eynde E , van Rossum EFC , Halberstadt J , Brandsma AE , Kleinendorst L , van den Akker ELT , van der Voorn B ,

Introduction: Lockdown measures following the COVID-19 pandemic are shown to have greatly affected lifestyle behaviours and health-related quality of life (HRQoL) of children. The impact on children with severe obesity has not yet been described. Aim of this study was to investigate the impact of COVID-19 lockdown on eating behaviours, physical activity (PA), screen time, and HRQoL of children (including adolescents) with severe obesity....

hrp0086lbp1 | (1) | ESPE2016

46,XY DSD due to Isolated AMH Deficiency Resulting in Persistent Müllerian Duct Syndrome (PMDS) as a Consequence of a Single-Base Deletion in a SF1-Response Element of the AMH promoter

Valeri Clara , di Clemente Nathalie , Marshall Ian , Schteingart Helena , Josso Nathalie , Rey Rodolfo , Picard Jean-Yves

Background: Isolated persistence of Müllerian ducts in an otherwise normally virilised 46,XY newborn, a condition known as PMDS, is a disorder of sex development (DSD) due to a defect limited to AMH-dependent Müllerian duct regression.Objective and hypothesis: We report the case of a patient with PMDS and extremely low serum AMH in whom no mutations were detected in the AMH gene coding sequences. A single base deletion identified in th...

hrp0095rfc2.6 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Genetic liability and late adverse musculoskeletal, metabolic and mental health effects in a cohort of survivors of childhood acute lymphoblastic leukemia – a PETALE study

Nadeau Geneviève , Yazdanpanah Mojgan , Yazdanpanah Nahid , Krajinovic Maja , Alos Nathalie , Manousaki Despoina

Objectives: Survivors of childhood acute lymphoblastic leukemia (cALL) present elevated fracture rates compared to the general population. A polygenic risk score for estimated bone mineral density (BMD), named gSOS, validated to predict the risk of adult osteoporotic fracture, has been previously associated with significant fracture risk in childhood. We hypothesized that gSOS could be associated with long-term, bone health-related mobidities in survivors of c...

hrp0089p2-p044 | Bone, Growth Plate & Mineral Metabolism P2 | ESPE2018

High Incidence of Cranial Synostosis and Chiari Malformation in Children with X-linked Hypophosphatemic Rickets

Rothenbuhler Anya , Bacchetta Justine , Fadel Nathalie , Lambert Anne Sophie , Adamsbaum Catherine , Linglart Agnes , Rocco Federicco Di

Background: X-linked hypophosphatemic rickets (XLH) represents the most common form of hypophosphatemia and leads to vitamin D resistant rickets in children. Even though cranial vault and craniovertebral anomalies of potential neurosurgical interest, namely early closure of the cranial sutures and Chiari type I malformation- have been observed in XLH patients their actual incidence is not established.Aim: Describe and analyze the incidence of cranial and...

hrp0086fc5.2 | Management of Disorders of Insulin Secretion | ESPE2016

Diabetes and Insulin Injection Modalities: Effects on Hepatic Expression and Activity of 11β-Hydroxysteroid Dehydrogenase Type 1 in Juvenile Diabetic Rats

Rougeon Veronica , Moisan Marie-Pierre , Barthe Nicole , Beauvieux Marie-Christine , Marissal-Arvy Nathalie , Barat Pascal

Background and hypotheses: Recent results showing elevated tetrahydrocortisol/tetrahydrocorticosterone ratio (THFs/THE) in morning urines of diabetic children compared to controls suggest an increased nocturnal activity of 11 β-hydroxysteroid dehydrogenase type 1 (11β-HSD1). We made the hypothesis that a reduced inhibition of hepatic 11β-HSD1 activity by exogenous insulin, due to its subcutaneous (SC) administration and absence of first hepatic passage, could ex...

hrp0086p2-p428 | Gonads & DSD P2 | ESPE2016

Hematocolpos Revealed by Non-cyclic Lower-back Pain in a Pre-menarcheal Girl

Ly Nathalie , Jaroussie Marianne , Kyheng Christele , De Filippo Gianpaolo , Levy-Zauberman Yael , Fernandez Herve , Duranteau Lise

Background: Hematocolpos is a rare condition in young girls that can be caused by imperforated hymen or vaginal agenesis. It is usually diagnosed at early puberty with cyclic abdominal pain and amenorrhoea. Menarche is usually observed two years after the start of puberty; sometimes pre-menarcheal bleeding can occur, ranging from isolated premature menarche to spotting in course of puberty. In case of imperforated hymen or vaginal anomaly, a pre-menarcheal uterine bleeding can...