ESPE Abstracts

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...

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...

The human fetal adrenal comprises the fetal zone which produces adrenal androgens (predominantly DHEA and DHEAS) and the definitive zone which will give rise to the adult adrenal cortex after birth. Together with the fetal liver and the placenta, it forms the fetal-placental unit which produces a variety of estrogens from androgen precursors. Although steroid production by the fetal adrenal seems not essential for fetal survival during pregnancy, steroid biosynthetic defects (...

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 ...

Background: Hb E/β-thalassemia is the most common β-thalassemia disorder in Southeast Asia. Children with Hb E/β-thalassemia vary greatly in red cell transfusion requirement. Some are transfusion dependent (TD) whereas others are non-TD (NTD). Iron-overload associated with transfusion dependency causes endocrinopathies such as delayed puberty, short stature and low bone mass. The prevalence of these complications are high in TD patients with iron overload. While...