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...

hrp0098p2-292 | Thyroid | ESPE2024

Normal Thyroid Gland Size in Healthy Turkish Newborns Living in An Iodine-Sufficient Area: Ultrasonographic Measurements and Comparison of Handheld and Standard Devices

Tuzcu Göksel , Deveci Sevim Reyhan , Gök Mustafa , Anık Ayşe , Anık Ahmet

Objective: The primary aimof this study was to determine the normal values of thyroid gland size measured by ultrasonography (US) in healthy term newborn infants. The secondary objective was to compare the measurements made with handheld and standard US devices.Materials and Methods: Healthy newborn infants aged 0-30 days were included in the study. Thyroid size was measured twice: first between days 1-2 and again betwee...

hrp0095rfc4.6 | Fat, Metabolism and Obesity | ESPE2022

European Consortium of Lipodystrophies Registry, 2022

von Schnurbein Julia , Gambinieri Alessandra , Fernández-Pombo Antia , Akinci Baris , Vatier Camille , Cecchetti Carolina , Adiyaman Cem , Vigoroux Corrine , Araujo-Vilar David , Savage David , Gilio Donatella , Bismuth Elise , Sorkina Ekaterina , Vorona Elena , Santos Silva Ermelinda , Nobecourt Estelle , Csajbok Eva , Santini Ferrucio , Prodam Flavia , Nagel Gabriele , Aimaretti Gianluca , Latanzi Giovanna , Ceccarini Giovanni , Novelli Giuseppe , Yildirim Simsir Ilgin , Jeru Isabelle , Štotl Iztok , Carel Jean-Claude , Writzl Karin , Heldt Katrin , Miehle Konstanze , Kleinendorst Lotte , D’Apice Maria-Rosaria , Beghini Mariana , Vantyghem Marie-Christine , Broekema Marjoleine , Faßhauer Mathias , Stumvoll Michael , Sbraccia Paolo , Ozen Samim , Magno Silvia , Scherer Thomas , Daffara Thomaso , Pekkolay Zafer , Wabitsch Martin

Background: Lipodystrophy syndromes comprise a large group of extremely rare diseases characterized by loss or dysfunction of adipose tissue. Due to their extreme rarity and variability, research in the field of lipodystrophy is difficult for single centres warranting larger co-operations.Methods: Therefore, the European Consortium of Lipodystrophies decided to found an international registry in 2016. This registry is ba...

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...

hrp0095p1-5 | Adrenals and HPA Axis | ESPE2022

Urinary steroid metabolite ratios: sex- and age-dependent changes and use for the differential diagnosis of inborn steroidogenesis disorders

S. Baranowski Elizabeth , Guran Tulay , C. Gilligan Lorna , Shaheen Fozia , Utari Agustini , M.H. Faradz Sultana , E. Van Herwaarden Antonius , L. Claahsen - van der Grinten Hedi , E. Taylor Angela , H.L. Shackleton Cedric , Arlt Wiebke

Background: Biochemical ratios of precursor-to-product urinary steroid metabolites have been proposed as surrogate markers of steroidogenic enzyme activity to aid the differential diagnosis of inborn disorders of steroidogenesis. Using ratios rather than total amounts facilitates analysis of single spot urine samples, more convenient than 24-h urine collections for young children. Previous studies examining the utility of these biochemical ratios have been lim...

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...

hrp0084p1-64 | DSD | ESPE2015

MAMLD1 Mutations Seem Not Sufficient to Explain a 46, XY DSD Phenotype. What else?

Camats Nuria , Fernandez-Cancio Monica , Audi Laura , Mullis Primus E , Moreno Francisca , Casado Isabel Gonzalez , Lopez-Siguero Juan Pedro , Corripio Raquel , de la Vega Jose Antonio Bermudez , Blanco Jose Antonio , Fluck Christa E

Background: The MAMLD1 gene (Xp28) is thought to cause disorder of sex development (DSD) in 46, XY patients, mostly presenting with hypospadias, and, recently, also gonadal dysgenesis. However, there is some controversy about the role of MAMLD1 in sex development because i) some MAMLD1 variants are also detected in normal individuals, ii) others are not present in all affected DSD individuals of the same family; iii) several MAMLD1 mutations...

hrp0095fc6.5 | Sex Development and Gonads | ESPE2022

Phenotypes in a large international cohort of individuals with SF-1/NR5A1 variants

Kouri Chrysanthi , Sommer Grit , Martinez de Lapiscina Idoia , Tack Lloyd , Cools Martine , E Flück Christa , study group SF1next

Background: Loss of function variants in Steroidogenic Factor 1 (NR5A1/SF-1) lead to a broad spectrum of phenotypes, but data on the whole picture of phenotypes are currently lacking. We aimed to investigate the phenotype of individuals with SF-1 variants in a large international cohort.Methods: We identified the individuals through the international I-DSD network and through contacting researchers from previous publicat...