hrp0097fc13.3 | Pituitary, neuroendocrinology and puberty 2 | ESPE2023

Variants in Methyl-CpG-binding protein 2 (MECP2) are associated with X-Linked Central Precocious Puberty

E Read Jordan , Guasti Leonardo , Paganoni Alyssa , Korbonits Marta , R Howard Sasha

Whilst several key genetic contributors to the phenotype of central precocious puberty (CPP) have been recognized, many familial cases remain without clear a genetic aetiology. Causal genetic variants are reported in imprinted genes Makorin ring finger protein 3 (MKRN3) and Delta-like homolog 1 (DLK1), alongside Kisspeptin-1 (KISS1) and (KISSR1), implicating mis-regulation of transcriptional control of the kisspeptin and GnRH neuroendocrine systems in onset of CPP. We recently...

hrp0097rfc10.3 | Fetal, neonatal endocrinology and metabolism (to include hypoglycaemia) & Multisystem endocrine disorders | ESPE2023

Non-coding Variants in HK1 Account for 5% of Cases of Congenital Hyperinsulinism Without an Identified Genetic Cause

Rosenfeld Elizabeth , E. Boodhansingh Kara , A. Stanley Charles , Ganguly Arupa , D. De Leon Diva

Background: The genetic etiology of non-syndromic HI remains unknown in over 20% of all cases, and over 50% of diazoxide-responsive cases. Non-coding variants in HK1 have been suggested to cause HI by linkage-analysis (Pinney et al., 2008). More recently, variants within a regulatory region of HK1 intron 2 were reported in 17 individuals with HI (Wakeling et al., 2022). These variants have been proposed to cause HI by disrup...

hrp0097rfc11.6 | GH and IGFs | ESPE2023

Evaluation Of The Growth Hormone-Insulin like Growth Factor1 Axis And Serum Fibroblast Growth Factor 21 Levels As Related To Stature In Children And Adolescents With Coeliac Disease Adherent To Gluten Free Diet

Kaya Fırat , Urgancı Nafiye , Merve Usta Ayşe , Çelik Sedanur , Uçar Ahmet

Background: Coeliac disease(CD)is a common cause of stunted growth. Despite adherence to gluten-free diet(GFD), short stature may persist in some patients with CD. Studies investigating the growth hormone(GH)-insulin like growth factor-1(IGF1) axis in children and adolescents withCDare scant and inconclusive. Fibroblast growth factor-21(FGF-21)is a181amino acid polypeptide that plays a role in growth, lipid and glucose metabolism. The inhibitory effects of FGF...

hrp0097p1-266 | Fat, Metabolism and Obesity | ESPE2023

Abdominal fat measured with nutritional ultrasound as a risk screening for non-alcoholic hepatic steatosis (NASH) in obese children

Diez-Lopez Ignacio , Sarasua-Miranda Ainhoa , Maeso Mendez Sandra , Garcia Casares Zuriñe , Erika Calvo Saez A

NASH is an increasingly relevant finding in the pediatric population affected by obesity. In adults, its evolution from this steatosis to fibrosis and its correlation with metabolic syndrome is increasingly significant. The existence of a rapid and validated screening tool in consultation would be very useful.Main objective: To evaluate if the measurement of intraperitoneal fat measured through nutritional ultrasound, allows the diagnosi...

hrp0097p1-280 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2023

The Metabolism of 11-Oxy Androgens by Fetal CYP3A7 and CYP3A4 is Less Efficient Compared to Classical Androgens

du Toit Therina , E Flück Christa , V Pandey Amit , Groessl Michael

Steroidogenic enzyme expression in the fetal adrenal and the placenta hints at the production and metabolism of adrenal-derived 11-oxy androgens (11OxyAs) in the fetal-placental unit. Thus, 11OxyAs are present in placental tissue, fetal cord blood and neonatal serum, and could have a particular role during fetal development. The metabolism of the 11OxyAs in the fetal unit, therefore, presents as a focal point of investigation. Adrenal androgens are primarily metabolized by the...

hrp0097p1-514 | Growth and Syndromes | ESPE2023

Addition of genetic workup in children with isolated short stature to improve the diagnostic yield for growth hormone treatment

Martinez de Lapiscina Idoia , Zürcher Matthias , Saner Christoph , E. Flück Christa

Introduction: Short stature is a common finding that affects per definition about 3% of the population. Isolated, severe short stature may be treated successfully with recombinant human growth hormone (rhGH). Currently, rhGH is offered to short children with specific disorders or biochemically proven growth hormone deficiency (GHD). However, biochemical testing for GHD is artificial and therefore controversial. Adding genetic testing may improve the diagnostic...

hrp0097p1-356 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Acquired Hypothalamic dysfunction in childhood: “What do patients need?“ – an Endo-ERN survey

van Roessel I.M.A.A. , de Graaf J.P. , Biermasz N.R. , Charmandari E. , van Santen H.M.

Objective: Hypothalamic dysfunction is a rare condition and can be encountered in patients who have been diagnosed or treated for a suprasellar brain tumor. Due to its rarity, signs and symptoms of hypothalamic dysfunction may be difficult to recognize, leading to delayed diagnosis of the suprasellar brain tumor or to difficulties in finding the health care expertise for hypothalamic dysfunction after tumor treatment. To improve care and outcome of patients wi...

hrp0097p1-565 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Insights into pubertal development among individuals with NR5A1/SF-1 variants: Results from the international SF1next study

Kouri Chrysanthi , Sommer Grit , Martinez de LaPiscina Idoia , E. Flück Christa

Background: NR5A1/SF-1 variants result in a wide range of phenotypes including DSD, male infertility, and primary ovarian insufficiency (POI). Little is known of how NR5A1/SF-1 variants affect puberty in individuals with or without DSD. This study aimed to assess the impact of NR5A1/SF-1 variants on pubertal development and investigate whether abnormal puberty is linked to the severity of DSD in an international cohort with NR5A1...

hrp0097p1-566 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Inhibin A (INHA) and steroidogenic factor 1 (SF-1/NR5A1) collaborate in regulating human sex development.

Naamneh Elzenaty Rawda , Sara Sauter Kay , Kouri Chrysanthi , Martinez de Lapiscina Idoia , E. Flück Christa

Background: Inhibin consists of two homologous subunits, the α (INHA) and the βA or βB subunits (INHBA/INHBB). Both inhibins play an important role in the hypothalamic-pituitary-gonadal axis by regulating the follicle stimulating hormone levels. INHA knockout mice develop mixed or incompletely differentiated gonadal stromal tumours. In females, some INHA variants have been associated with primary ova...

hrp0098p1-101 | Thyroid 1 | ESPE2024

Genetic analyses in a cohort of pediatric patients with congenital hypothyroidism based on congenital hypothyroidism consensus guideline

Kurnaz Erdal , Turkyilmaz Ayberk , Yaralı Oguzhan , Sena Dönmez Ayşe , Çayır Atilla

Background: Pathogenic variants in the genes involved in the formation of thyroid tissue and thyroid hormone secretion have been reported to cause congenital hypothyroidism (CH) in some cases.Aim: This study aimed to evaluate the clinical and genetic findings of CH cases thought to be due to genetic variantsMethod: The study included cases whose genetic analysis was performed in ac...