ESPE Abstracts

Background: Androgens are steroid hormones necessary for human sex development. Testosterone (T) and the more potent dihydrotestosterone (DHT) are maybe the best known androgens, which exert their effect by binding and activating the androgen receptor. Steroid reductases 5α (SRD5As) catalyse the conversion of T to DHT in the classic androgen production pathway, or from 17-hydroxyprogesterone to 17OH-dihydroprogesterone, and androstenedione to androstanedione in alternate ...

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...

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...

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...

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...

Introduction: Steroidogenic factor1 (SF1/NR5A1) regulates adrenal and sex development and function. SF1 mutations manifest with a broad phenotype; generally in 46,XY individuals with disorders of sex development (DSD) and in women with ovarian insufficiency. So far, no genotype–phenotype correlation has been found. We hypothesized that the broad phenotype of SF1 mutations may be due to a second hit in a gene with similar function. Liver receptor homolog-1 (LRH1/<...

Background: For young adults with type 1 diabetes, transition from a paediatric setting to an adult care setting is a vulnerable period with risks for gaps in care. These emerging adults need to develop skills for managing their diabetes yet it is often challenging to cover all anticipatory guidance topics related to type 1 diabetes. In the context of a structured transition clinic, we hypothesized that by leveraging teens’ facility with technology and marketing/design we...

Introduction: Following the onset of the COVID-19 pandemic in early spring 2020, there was a need to identify the burden of this infection on people with rare endocrine conditions. The European Registries For Rare Endocrine Conditions (EuRRECa) was launched in 2018 in collaboration with Endo-ERN, ESPE and ESE to support the needs of the wider endocrine community. The project consists of an e-reporting (e-REC) platform that allows monthly reporting of new clini...

Introduction: The ESPE e-learning web-portal (www.espe-elearning.org) was developed to address gaps in education in pediatric endocrinology and diabetes and was first published online in 2012. Since then, it has been utilized in different settings and applications. Here, we present its utilization in a series of e-learning and e-consultation webinars in collaboration with the Indonesian Pediatric Society (IDAI- Ikatan Dokter Anak Indonesia).<p class="abste...

Background: The rapidly increasing T1D incidence in European children suggests the recent emergence or extension of predisposing E factors, or the decrease of protective E factors acting during pregnancy, infancy or early childhood. E research has preferentially focused on specific candidate factors, such as hygiene hypothesis, enteroviruses, alimentation, in cohort or case-control studies. The risk of bias is a major concern in E studies.Objectives: To ...