ESPE Abstracts

Background: Reports on obesity, high blood pressure and reduced insulin sensitivity in children with classical congenital adrenal hyperplasia (CAH) indicate an increased cardiovascular risk.Objective and Hypotheses: To evaluate potential mechanisms, we analysed various parameters of the carbohydrate metabolism in children and adolescents with CAH.Method: Out of 86 patients with classical CAH, n=41 (21 m, 20 f; ages: 6.9&#1...

Background: Low birth weight, unfavourable intrauterine conditions, and post-natal catch-up growth are associated with a subsequent impact on growth, pubertal development, and metabolic disturbances later in life. Although the start of puberty is genetically determined it might be altered due to environmental influences.Objectives: In a longitudinal study (birth to final height) we observed growth and pubertal development of genetically identical twins b...

Background: It has been reported that children with congenital adrenal hyperplasia (CAH) have higher BMI, increased body fat and greater waist-to-hip ratio (WHR) than control children.Objective and hypotheses: Recently it was speculated that the screening potential of waist-to-height ratio (WHtR) and waist circumference (WC) for cardio-metabolic risk in adults is higher than WHR and BMI.Method: To review this hypothesis, we studied...

Background: T1DM may influence growth and pubertal development and vice versa. Delayed pubertal development and reduced final height are known to be associated with inadequate metabolic control. Many factors including insulin resistance during puberty and insufficient adherence may be responsible for increasing HbA1c.Objective: Is pubertal growth spurt associated with an increase of HbA1c? Are there gender differences in metabolic control during...

Context: Analysis of steroids by gas chromatography – mass spectrometry (GC-MS) defines a subject’s ‘steroidal fingerprint’. Here, we clustered steroidal fingerprints to classify childhood obesity by ’steroid metabolomic signatures’.Methods: Urinary samples of 87 children (44 F) age 8.5–18.0 with obesity (BMI >97%) underwent solid phase extraction, enzymatic hydrolysis and derivatization. 31 steroids metabolites wer...

Background: Steroids are found in human blood predominantly as sulfated steroids. Conjugation of steroids increases their solubility in blood, facilitating their physiological regulation and excretion. Chromatographic separation and quantification of an extensive number of sulfated steroids is challenging. For instance, androgen sulfates are structurally related and their signals are very similar in mass spectrometry.Objective and hypotheses: Some of the...

Background: Type 1 diabetes mellitus (T1DM) is caused by autoimmunity against the pancreatic beta-cell. Although a significant number of T1DM patients develop further autoimmune disorders during lifetime, coexisting severe immunodysregulation is rare.Objective and hypotheses: Presuming autosomal-recessive inheritance in a complex immunodysregulation disorder including T1DM in two siblings born to consanguineous parents, we performed whole exome sequencin...

Background: Hematopoietic stem cell transplantation (HSCT) is associated with severe medical complications and variable outcome depending on the recipient’s disease stage and health condition. As serum-IGF 1 is decreased in patients with severe illness, after major surgery, in malnutrition, and other conditions that cause catabolic metabolism, it may serve as predictive biomarker for transplant outcome.Individuals and Methods: Based...

Initially discovered in the 1970s, the C21 steroidal acids α-cortolic acid, β-cortolic acid, α-cortolonic acid and β-cortolonic acid present the terminal oxidative products of cortisol metabolism. Undergoing renal elimination, these cortoic acids have been assumed to represent up to 25% of total urinary cortisol metabolites. However, their analysis has been difficult, only few data has been published in adults, and this class of steroids has beco...

Introduction: In children, estradiol (E2) concentrations are 1000-times lower in comparison to their precursors, the androgens. Depending on sex, age, and pathology, plasma concentrations vary in a broad range. The sensitive and specific determination of E2 is a particular challenge in pediatric endocrinology. Here we report a female patient aged 12 6/12 years and Tanner stage B1 with a presumed diagnosis of ovarian insufficiency. She showed a very high E2 con...