hrp0098fc4.3 | Adrenals and HPA Axis 1 | ESPE2024

Plasma reference values for C19 oxy-steroids, 11-keto testosterone and 11-keto androstenedione in a paediatric cohort

Kulle Alexandra , Reese Sara , Caliebe Amke , Reinehr Thomas , Simic-Schleicher Gunter , Schulz Esther , Heger Sabine , Holterhus Paul-Martin

Introduction: Rege et al. (2018) demonstrated that 11-keto-testosterone (11KT) is the dominant androgen in girls during adrenarche. Claahsen-van der Grinten et al. (2022) proposed C19 oxysteroids as a potential parameter for therapeutic control in congenital adrenal hyperplasia (CAH). Turcu et al. (2016) observed a significant elevation in C19 oxysteroids in patients with 21-hydroxylase deficiency (21OHD). Currently, C-19 oxysteroids...

hrp0098fc9.5 | Sex Endocrinology and Gonads | ESPE2024

Sex hormones shape the skeleton: The impact of puberty suppression and gender affirming hormone therapy on skeletal dimensions in transgender individuals

Boogers Lidewij , Sikma Boukje , Wiepjes Chantal , Bouman Mark-Bram , van Trotsenburg Paul , den Heijer Martin , Hannema Sabine

Context: Skeletal dimensions vary between sexes. Men typically have broader shoulders while women have a wider pelvis. It remains unclear to what extent gender affirming hormone therapy (GAHT) with or without prior puberty suppression (PS) can alter these dimensions in transgender individuals.Methods: Transgender individuals assigned male at birth (AMAB) and assigned female at birth (AFAB) were included in this retrospec...

hrp0098fc12.6 | Thyroid | ESPE2024

The First Robust Bioavailability/Bioequivalence (BA/BE) Study of Thyromimetic Tiratricol, a Treatment in Development for MCT8 Deficiency.

Sonesson Christian , Carroll Kevin , Singh Nand , McDermott John , Sjöblom Nygren Kristina , Näsström Jacques , Paul A Dickinson

Background and Objectives: MCT8 deficiency is a debilitating, ultra-rare, X-linked disorder resulting from dysfunctional thyroid hormone (TH) transport. A lack of TH in the brain results in profound neurodevelopmental delay while a co-existing excess of TH in tissues outside the brain leads to symptoms of chronic thyrotoxicosis. Tiratricol is a naturally occurring metabolite of triiodothyronine (T3) that clinical trials have shown can restore normal TH signall...

hrp0098rfc4.3 | Adrenals and HPA Axis 1 | ESPE2024

Differences and similarities in salivary diurnal adrenal hormones in monozygotic twins with intra-twin birthweight-differences

Roedig Thea , Schulte Sandra , Eberhardt Nora , Schreiner Felix , Bartmann Peter , Holterhus Paul-Martin , Kulle Alexandra , Gohlke Bettina

Objective: Low birthweight (bw) and unfavourable intrauterine conditions have been associated with metabolic and cardiovascular sequelae in later life. Although it is already well known that DHEAS is increased in formerly small-for-gestational-age singletons and in smaller twins compared to their normal-weight co-twin, less is known concerning other adrenal hormones. We analysed diurnal salivary profiles in prepubertal six to eight years old monozygotic twins ...

hrp0098t10 | Top 20 Posters | ESPE2024

Phenotypic and genotypic characterization and long-term follow-up of patients with thyroid hormone resistance

Van der Auwera Tessa , Breckpot Jeroen , Unuane David , Nauwynck Elise , Van Crombrugge Paul , Decallonne Brigitte , Rochtus Anne

Background: Resistance to thyroid hormone (RTHβ) is a rare disease caused by an inactivating mutation in the thyroid hormone receptor beta gene (THRB). This condition leads to elevated thyroid hormone levels with non-suppressed TSH levels. The clinical phenotype is highly variable, ranging from asymptomatic to signs of hyperthyroidism and/or hypothyroidism. This study analysed the genotype and phenotype of paediatric and adult patients followed in three B...

hrp0098p1-77 | Multisystem Endocrinology | ESPE2024

An atypical presentation of McCune Albright syndrome

Bonnet Nicolas , Laurent Romain , Van-Nieuwenhuyse Jean-Paul , Becker Marianne , De Beaufort Carine , Schierloh Ulrike , Witsch Michael , Ghaddhab Chiraz

McCune-Albright syndrome (MAS) is a rare genetic disorder caused by somatic activating mutations in the GNAS gene. Depending on the embryonic stages at which the mutation occurs, the phenotype of MAS may vary widely. Typical features include polyostotic fibrous dysplasia, café-au-lait skin lesions and multiple endocrinopathies, most frequently a peripheral precocious puberty. More rarely, patients have a liver involvement. We report the case of a 2 years-old boy with a ...

hrp0098p2-396 | Late Breaking | ESPE2024

Study of Novel Genetic Etiologies for Ovarian Dysgenesis reveals high prevalence of pathogenic variants in DNA damage response genes.

Florsheim Natan , Cohen Amitay , Abu-Libdeh Abdulsalam , Naugolni Larisa , Landau Zohar , Mendelson Espen , Renbaum Paul , Levy-Lahad Ephrat , Zangen David

Background: Ovarian Dysgenesis (OD) is a rare genetically heterogeneous XX Disorder of Sex Development. It presents clinically with primary amenorrhea, hypergonadotrophic hypogonadism and infertility. The genetic basis of OD remains unknown in 70% of cases. To identify novel genetic causes of OD, we are investigating families with one or more patients diagnosed with OD.Methods: Using a patient-based approach, WES was per...

hrp0095fc1.3 | Thyroid | ESPE2022

Meta-analysis of DNA methylation datasets identifies aberrant DNA methylation of thyroid function and development genes in Down syndrome

Lauffer Peter , Zwaveling-Soonawala Nitash , Li Shaobo , Bacalini Maria , Naumova Oxana , Wiemels Joseph , Boelen Anita , Henneman Peter , de Smith Adam , van Trotsenburg Paul

Down syndrome (DS) is characterized by a higher incidence of congenital hypothyroidism (CH) and a high prevalence of subclinical hypothyroidism (SH) early in life. Children and adults with DS have an increased risk of developing autoimmune thyroid disease, however CH and early SH cannot be explained by thyroid autoimmunity. The etiology of CH and early SH in DS remains to be elucidated. Considering the recently discovered genome-wide transcriptional and epigenetic alterations ...

hrp0095fc3.2 | Early Life and Multisystem Endocrinology | ESPE2022

Results from a Global, Multi-Center, Phase 2b Study (RIZE) in Congenital Hyperinsulinism: Characterization of a High Unmet Treatment Need and Glycemic Response to RZ358

Demirbilek Huseyin , Melikyan Maria , Galcheva Sonya , Dastamani Antonia , Thornton Paul , De Leon Diva , Raskin Julie , Roberts Brian , Hood Davelyn , O'Boyle Erin , Christesen Henrik

Background: Congenital Hyperinsulinism (CHI) is the most frequent cause of severe, persistent hypoglycemia in children. Persistent hypoglycemia places patients at risk for adverse clinical outcomes, and current guidelines recommend maintaining plasma glucose >3.9mmol/l. CHI patients often have substantial, residual hypoglycemia and fail to meet treatment goals with currently available standard of care (SOC) therapies. In this study, we aimed to characterize...

hrp0095rfc11.5 | Late Breaking | ESPE2022

Dasiglucagon Treatment Over 21 days in Infants with Congenital Hyperinsulinism Results in Glycaemic Stability and Reduces Requirement for Intravenous Glucose

Banerjee Indraneel , D. De Leon Diva , M. Kendall David , Birch Sune , Bøge Eva , Ivkovic Jelena , S Thornton Paul , Nurdan Ciftci , Huseyin Demirbilek

Background: Congenital hyperinsulinism (CHI) is a chronic and complex rare endocrinopathy with dysregulated insulin secretion causing severe and recurrent hypoglycemia resulting in adverse neurologic and developmental sequelae in children. Current treatment options are limited and often inadequate to treat CHI. Dasiglucagon (DASI), a glucagon analog administered by subcutaneous continuous infusion, has demonstrated reduction in glucose infusion rate (GIR) in P...