ESPE Abstracts

Background: In children, congenital hyperinsulinism is the most common cause for endogenous hyperinsulinaemic hypoglycaemia (HH). Beyond infancy other diagnoses may be considered, such as insulinoma, an insulin-secreting neuroendocrine tumour (NET) arising mostly from the pancreas. The latter is a rare cause of HH in children. The estimated incidence of insulinoma is 1:250’000 person-years of all age groups with a median age at diagnosis of 47 years. Herein, we report an ...

Background: Adolescents with gender dysphoria (GD) are treated with gonadotropin-releasing hormone analogues (GnRHa) to prevent the development of characteristics of the undesired sex. Subsequently, sex steroids of the desired sex, cross sex hormones (CSH) are added. GnRHa treatment is generally considered to be safe in the treatment of precocious puberty in children. However, we observed that some adolescents with GD developed hypertension during GnRHa monotherapy (Klink D <e...

Background: During treatment of adrenal insufficiency (AI) with hydrocortisone (HC), cortisol concentrations are supra-physiological following doses, and low before doses. We speculated that this cortisol profile may result in periods of hyperglycaemia and hypoglycaemia. We describe glucose profiles in the first 18 children recruited to a study of metabolic and cardiovascular profiles in AI. Methods: Children with primar...

Background: Increased risk of cardiovascular disease and increased subclinical atherosclerosis have been reported in children with primary adrenal insufficiency (AI), including those with congenital adrenal hyperplasia (CAH), when compared to healthy children. Carotid intima media thickness (CIMT) can be used as an early marker of cardiovascular risk. The severity of adverse metabolic profile has been related to the total hydrocortisone dose and duration of tr...

Keywords: transgender, GnRH agonists, gender affirming hormones, final height, growth, pubertyBackground: Trans boys (TB) and trans girls (TG) who start medical gender-affirming treatment at Tanner stage 2-3 undergo early puberty suppression (ePS) with Gonadotropin-Releasing Hormone agonists (GnRHa) for several years and subsequently receive gender-affirming hormones (GAH), around 15-16 years. This treatment clearly inte...

Background: Prader-Willi Syndrome (PWS), is a rare complex, genetic neurodevelopmental disorder characterised by hypotonia, poor feeding, neonatal failure to thrive. Untreated, patients progress to hyperphagia and life-limiting extreme obesity. Growth hormone therapy (GHt) is currently the only licenced therapy in PWS. The consensus statement by Deal et al, suggested GH treatment at around 2-years before the onset of obesity. While there are no data to support...

Background/Introduction: Whole exome sequencing (WES) revolutionized clinical genetics in patients with differences of sex development (DSD). However, our ability to interpret WES data is limited by our incomplete understanding of the mechanisms involved in DSD. Thus, we created a methodology that scores potential candidates based on single cells transcriptomics of human male gonadal cells and applied it to WES data from a cohort of genetically male (46,XY) DS...

Introduction: Abdominal subcutaneous adipose tissue (SAT) is subdivided into two depots by the fascia of Scarpa. The deep SAT (dSAT) and superficial SAT (sSAT) are morphologically and metabolically distinct, with dSAT reportedly being more similar to visceral adipose tissue (VAT) in terms of elevating the risk for obesity-related complications. Conversely, sSAT appears to be more similar to lower-body SAT. The relationship between dSAT and metabolic disease ha...

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: The hypothalamic-pituitary-adrenal (HPA) axis may be suppressed at birth. In most infants this is tolerated well. HPA testing in infancy often generates ‘abnormal’ results although abnormalities of the HPA may not be identified and cortisol measurements often ‘normalise’ over time.[1]Aim: To contribute to the evidence base on neonatal HPA activity by reporting outcomes of infants age &...