hrp0098fc9.4 | Sex Endocrinology and Gonads | ESPE2024

Prenatal exposure to paracetamol is associated with smaller testis volume and decreased levels of steroid metabolites during infancy in healthy males: A COPANA cohort study of 287 boys

Mola Gylli , Bistrup Fischer Margit , Frederiksen Hanne , Scheel Lone , Bak Wraae Katrine , Lilleøre Rom Ane , Kristine Hegaard Hanne , Møbjerg Kristensen David , Juul Anders , Hagen Casper

Background: Paracetamol is bought over the counter and frequently used by pregnant women. Studies suggest that paracetamol is endocrine-disruptive, affecting for example germ cell proliferation. Fetal male masculinization is initiated in early gestation (GW 8-14).Primary aim: To assess if prenatal exposure to paracetamol was associated with testicular function.Design: Prospective, ...

hrp0098p1-163 | Growth and Syndromes 2 | ESPE2024

Real-world utility of diagnostic gene panels for severe childhood growth failure and multiple pituitary hormone deficiency in the UK

BN Lim David , McCelland Louise , Page Suzanne , Connolly Melissa , Owens Martina , Bowles Chris , Palau Helena , V Maharaj Avinaash , Ishida Miho , L Storr Helen , H Davies Justin

Background: In selected cohorts, a genetic cause is found in up to 40% of children presenting with severe short stature (height <-3 SDS) and 30% with multiple pituitary hormone deficiency (MPHD). Since 2020, to inform diagnosis and tailor management, three NHS England genomic laboratory hubs (GLHs) have offered clinicians access to gene panels as part of routine care for short stature: R147 ‘Growth failure in early childhood’ (e...

hrp0098p1-179 | Pituitary, Neuroendocrinology and Puberty 2 | ESPE2024

A 31-year referral center experience in pediatric growth hormone secreting pituitary adenomas.

Ibañez Valentina , Olave Consuelo , Cardenas Paola , Robles Constanza , Castaño Luis , Martinez de la Piscina Idoia , Wohllk Nelson , Rojas David , Hernandez Maria

Introduction: Pituitary gigantism in children is a rare condition that results from excessive production of growth hormone (GH). The most common cause of gigantism is GH secreting pituitary adenomas, thart arise from excessive proliferation of somatotropic cells in the anterior portion of the pituitary gland. The described pediatric incidence is 3-8 cases per 1 million population. There are genetic syndromes associated with GH excess, especially in pediatric p...

hrp0098p1-280 | Sex Endocrinology and Gonads 3 | ESPE2024

Validation Of A New Short Parent Reported Outcomes (PRO) Questionnaire For Boys With A Condition Affecting Sex Development (CSD)

Tseretopoulou Xanthippi , R. Ali Salma , Gardner Melissa , Flett Martyn , Lee Boma , O'Toole Stuart , Steven Mairi , E. Sandberg David , Ahmed S.Faisal

Background: To aid assessment of parent-reported quality of life outcomes (PRO) in routine clinical setting in young children with a condition affecting sex development, a short questionnaire (PRO-CSD) that includes a parent-proxy report (PPR) and a parent-self-report measure (PSR) has been recently developed and requires further validation. Methods: Parents of 98 boys with a median age of 2.9 yrs (range, 0.2,6.5) and me...

hrp0098fc6.5 | Fat, Metabolism and Obesity 1 | ESPE2024

First cross sectional analysis of the eclip registry

von Schnurbein Julia , Nagel Gabriele , Akinci Baris , Broekma Marjoleine , Csajbok Eva , Rosaria D'Apice Maria , Gambineri Alessandra , Heldt Kathrin , Kleinendorst Lotte , Lattanzi Giovanna , Miehle Konstanze , Prodami Flavia , Santini Ferruccio , Santos Silva Ermelinda , B Savage David , Scherer Thomas , Sbraccia Paolo , Sorkina Ekaterina , Štotl Iztok , Vantyghem Marie-Christine , Vigouroux Corinne , Vorona Elena , Araújo-Vilar David , Wabitsch Martin , Vatier Camille , Ceccarini Giovanni

Background: Lipodystrophy syndromes comprise a group of extremely rare and heterogeneous diseases characterized by a selective loss of adipose tissue in the absence of nutritional deprivation or catabolic state. Because of the rarity of each lipodystrophy sub-form, research in this area requires international co-operation. Therefore, in 2016, the European Consortium of Lipodystrophies (ECLip) decided to create a registry for patients affected by lipodystrophy....

hrp0095p1-525 | Growth and Syndromes | ESPE2022

Growth Hormone IGF-1 axis and treatment with Growth Hormone in PGM1 deficiency

Auerbach Adi , H Korman Stanley , Jaron Ranit , Peled Segel Reeval , D Wexler Isaiah , Avraham Zehavi , Claire King Mary , Rosenfeld Nuphar , Levy-Lahad Ephrat , Abu-Libdeh Abdulsalam , H Zangen David , Levy- Khademi Floris

Background: Phosphoglucomutase 1 (PGM-1) deficiency is a congenital disorder of glycosylation caused by an impairment of glucose-1-phosphate and glucose-6-phosphate interconversion.The clinical phenotype of PGM1 deficiency is variable and includes several endocrine manifestations such as recurrent hypoglycemia and short stature, which may be associated with the decreased levels of growth hormone (GH), insulin like growth factor-1 (IGF1) ...

hrp0092fc14.4 | GH and IGF4 | ESPE2019

Once-Weekly TransCon hGH vs. Daily hGH in Pediatric Growth Hormone Deficiency: The Phase 3 heiGHt Trial

Vlachopapadopoulou Elpis , Aghajanova Elena , Chertok Elena , Korpal-Szczyrska Maria , Giorgadze Elene , Kovalenko Tatiana , Maniatis Aristedes , Thornton Paul , Hofman Paul , Song Wenjie , Shu Aimee , Karpf David , Beckert Michael , Leff Jonathan

Background: TransCon hGH is a sustained-release prodrug in development as a long-acting GH for children with growth hormone deficiency (GHD). TransCon hGH consists of a parent drug, growth hormone (hGH; somatropin), that is transiently bound to a carrier via a TransCon linker. The carrier extends hGH circulation time in the body and fully active hGH is released over one week at physiologic pH and temperature. Unlike other molecules in development, TransCon hGH...

hrp0092rfc7.5 | Diabetes and Insulin Session 2 | ESPE2019

Dual Diagnosis of Type 1 Diabetes and ADHD

Mazor-Aronovitch Kineret , Pinhas-Hamiel Orit , Modan-Moses Dalit , Levek Noah , Pivko-Levy Dikla , Miller Shahar , Graph-Barel Chana , Frumkin Ben-David Rachel , Ben-Ami Michal , Stern Eve Z , Gruber Noah , Levy-Shraga Yael , Landau Zohar

Background: Attention-deficit/hyperactivity disorder (ADHD) is the most common neurobehavioral disorder of childhood. Type 1 diabetes (T1DM) is the most common metabolic disease in children. The treatment of T1DM requires high executive functions and requires very intensive treatment that could be an obstacle for patients with ADHD. Dual diagnosis of T1DM and ADHD might affect treatment, control and complications of T1DM. In order to prevent long-term complica...

hrp0092p1-31 | Diabetes and Insulin | ESPE2019

Dual Diagnosis of Type 1 Diabetes and ADHD

Mazor-Aronovitch Kineret , Pinhas-Hamiel Orit , Modan-Moses Dalit , Levek Noah , Pivko-Levy Dikla , Miller Shahar , Graph-Barel Chana , Ben-David Rachel Frumkin , Ben-Ami Michal , Stern Eve Z , Gruber Noah , Levy-Shraga Yael , Landau Zohar

Background: Attention-deficit/hyperactivity disorder (ADHD) is the most common neurobehavioral disorder of childhood. Type 1 diabetes (T1DM) is the most common metabolic disease in children. The treatment of T1DM requires high executive functions and requires very intensive treatment that could be an obstacle for patients with ADHD. Dual diagnosis of T1DM and ADHD might affect treatment, control and complications of T1DM. In order to prevent long-term complica...

hrp0092p1-128 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

The Novel Founder Homozygous V225M Mutation in the 17HSDB3 Gene Causes Aberrant Splicing and Severe XY-DSD

Levy-Khademi Floris , Zeligson Sharon , Klopstock Tehila , Chertin Boris , Avnon-Ziv Carmit , Renbaum Paul , Lavi Eran , Sharaf Muna , Perlman Shira , Behar Doron , Zahade Fouad , Levy-Lahad Ephrat , Zangen David , Segel Reeval

Background: Mutations in the gene HSD17B3 encoding the 17-beta hydroxysteroid dehydrogenase 3 enzyme cause testosterone insufficiency leading to XY DSD. In this study the clinical characteristics and molecular etiology of 3 new severe XY DSD cases from consanguineous families are elucidated.Clinical report: Three female patients (2 sisters and a single unrelated female) presented at ages 0.1, 8 and 0.7 years with ambiguo...