ESPE Abstracts

Background: Adults with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHD) develop an adverse metabolic and cardiovascular risk profile. Both over- and undertreatment with glucocorticoids are associated with these adverse metabolic effects. There is limited data available of changes in cardiovascular parameters during lifetime.Objective: This study aimed to evaluate unfavorable changes in cardiovascu...

Introduction: The soluble leptin receptor (sLR) is the main binding protein of leptin in the serum. It reflects the amount of membrane-bound leptin receptors (LEPR) as the sLR is produced by proteolytic cleavage of the extracellular domain of membrane-bound LEPR. Low sLR but high leptin levels were measured in patients with severe obesity. In patients with monogenic obesity caused by biallelic LEPR variants, sLR levels were found to be either undetect...

Carney complex 1 (CNC, OMIM# 160980) is an autosomal-dominantly inherited complex tumor predisposition syndrome associated with skin pigment abnormalities and neoplasms of heart, endocrine glands and other organs. CNC is caused by heterozygous constitutional loss-of-function variants in the PRKAR1A-gene. PRKAR1A codes for the cAMP-dependent protein kinase type I-alpha regulatory subunit, an enzyme that represents an integral part of protein kinase A (PKA) tha...

Introduction: As of May 2021, German law protects children with differences of sex development (DSD), including females with congenital adrenal hyperplasia (CAH), from non-consensual genital surgery. Parents can consent only in emergencies; all other surgeries require the child's consent. Exceptions are allowed by law, with the approval of the family court following a positive decision by a multidisciplinary committee. If the family presents a positive de...

Background: Pubertal growth and adult height are important to many transgender adolescents undergoing medical transition. However, few studies are available on the impact of puberty suppression (PS) with GnRH analogues (GnRHa) and hormonal therapy (HT) with testosterone on growth. In this longitudinal cohort study, we investigated the effect of PS and HT on growth and adult height in transgender boys.Methods: A total of ...

Background: Measurement of salivary glucocorticoids is an accepted method for testing adrenal function and is gaining popularity as it offers a non-invasive collection technique, enabling sampling in the community or home environment, allowing tailored capture of steroid circadian rhythm and improved patient experience. However, there is little data on stability during home collection and sampling methods in young children. Current salivary collection techniqu...

Introduction: Action 4 Diabetes (A4D) is a UK non-profit organisation which has been providing free insulin and self-monitoring blood glucose test kits for children and young people (CYP) with type 1 diabetes (T1D) in Cambodia’s 2 large tertiary hospitals-Kantha Bopha II Hospital based in Phnom Penh (KB2H) and Jayavarman VII Hospital based in Siem Reap (J7H), since July 2018 and January 2020, respectively.Objective:</strong...

Shwachman-Diamond syndrome (SDS) is a rare congenital disease, which is caused by SBDS gene mutations. The main characteristics of SDS are pancreatic exocrine deficiency, hematological dysfunction, and skeletal growth failure. Emerging data from case reports and patient registries suggest, that SDS could also be associated with an increased risk for diabetes mellitus. Additionally, a small number of case reports in the literature describe a susceptibility to hypoglycaemia as a...

Introduction: As COVID-19 spread across Southeast Asia (SEA) in 2020-2021, healthcare systems in Cambodia, Laos and Myanmar braced as public health officials closed many outpatient diabetes clinics and healthcare professionals (HCPS) were redeployed to COVID-treatment zones. Action 4 Diabetes (A4D) is a UK non-profit organisation that has been providing free insulin and medical supplies to LMICs in SEA since 2016. With historically limited healthcare coverage ...

MicroRNAs (miRNAs) are small non-coding RNA molecules and play an important role in the post-transcriptional regulation of gene expression and thereby influence important cellular functions. In adipocytes, miRNAs regulate key processes such as differentiation, inflammation, metabolism, and adipokine secretion. Recently, we found that miR-27a is upregulated under proinflammatory conditions in human adipocytes. Thus, our goal was to better understand the function of miR-27a in a...