ESPE Abstracts

Background: Congenital hyperinsulinism is the most common cause of persistent hypoglycaemia in early infancy. Mutations in the HNF4A gene lead to transient hyperinsulinism in early infancy and maturity-onset diabetes of youth (MODY1), later in life. Fanconi syndrome is a generalised dysfunction of the renal proximal tubule with a loss of glucose, amino acids, phosphate, low molecular weight proteins, bicarbonate and urate, causing growth failure and rickets in childho...

Background: Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a rare autosomal recessive condition characterized by cortisol deficiency and elevated ACTH secretion, resulting in excess androgen production. This exposure to excess androgens contributes to advanced skeletal maturation and reduced growth in puberty. Data from the I-CAH registry were analyzed to identify growth-related characteristics of children and adolescents with...

Background: Access to transgender healthcare for adolescents varies largely across Europe (and beyond), depending on the regulations and healthcare system of the country where they live. In some countries, obtaining transgender healthcare can be almost impossible. Specifically, the age at which puberty suppression (PS) and subsequent gender-affirming hormones (GAH) are offered can vary widely. Medical treatment for adolescents with gender incongruence (GI) is ...

Background: We present the case of a 7-year old girl presenting with undulant ACTH independent Cushing syndrome (CS).Case presentation: The patient presented at a secondary care centre with hyperphagia, fatigue and 8 kg weight increase 4 weeks after an upper airway infection. The parents described a similar episode with spontaneous regression 12 months before. At physical examination she showed a cushingoid habitus with ...

Background: Biochemical ratios of precursor-to-product urinary steroid metabolites have been proposed as surrogate markers of steroidogenic enzyme activity to aid the differential diagnosis of inborn disorders of steroidogenesis. Using ratios rather than total amounts facilitates analysis of single spot urine samples, more convenient than 24-h urine collections for young children. Previous studies examining the utility of these biochemical ratios have been lim...

Background: Isolated aldosterone synthase deficiency is a rare autosomal recessive disorder caused by pathogenic variants in CYP11B2. To date, more than forty different pathogenic variants in the CYP11B2 gene causing isolated aldosterone synthase deficiency have been identified. We report on a novel pathogenic CYP11B2 variant.Case report: The second child (male) of consanguineous, healthy parents, presented shortly after...

Introduction: Childhood obesity is associated with alterations in hypothalamus-pituitary-adrenal axis activity. We tested the hypothesis that multiple alterations in the metabolism of glucocorticoids are required for the development of hypertension in children who become overweight.Methods: Timed spot urine for targeted gas chromatography-mass spectrometry steroid metabolome analysis was collected from (1) overweight/hyp...

Background: Classic Congenital Adrenal Hyperplasia (CAH) needs life-long treatment of glucocorticoids. Compliance with long-term medication is still challenging, particularly in developing countries. However, there has been no prospective study about the strategy to improve compliance in CAH and its relationship with hormonal control and quality of life (QoL) in CAH, especially in underprivileged countries such as Indonesia. This study aimed to determine the r...

Introduction: Classic congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency results in impaired synthesis of gluco- and often also of mineralocorticoids. Early treatment with glucocorticoids and mineralocorticoids prevents life-threatening crises. In some centres, additional salt is prescribed in the first year. However, until now the use of salt is controversial and not proved to result in better outcome in studies.<s...

Background: Reaching a definitive diagnosis in individuals with XY DSD is challenging and the time taken to reach a diagnosis is an important clinical benchmark that has not been sufficiently explored in this group of conditions.Objective: To evaluate the diagnostic process with a focus on the time to diagnosis in children with XY DSD reported via the e-reporting platform (e-REC) of the European Registries for Rare Endoc...