ESPE Abstracts

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...

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...

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...

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 ...

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...

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 ...

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...

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 ...

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...

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...