ESPE Abstracts

Introduction: Limited research has focused on the potential connection between thyroid function and attention-deficit/hyperactivity disorder (ADHD), particularly beyond prenatal effects. The few studies addressing children and adolescents have important methodological shortcomings, mainly when seeking to establish causality. To clarify this relationship, a combined epidemiological and genetic approach was adopted to overcome the methodological limitations of e...

Background: A fair number of epidemiological studies suggest that age at menarche (AAM) is associated with depression, but the reported effect sizes are small, and there is evidence of residual confounding. Moreover, previous Mendelian randomization (MR) studies to avoid inferential problems inherent to epidemiological studies have provided mixed findings.Methods: To clarify the causal relationship between age at menarch...

Background: POMC plays a major role in central body weight regulation. Recently we have shown that a POMC hypermethylation variant is significantly associated with obesity in children and adolescents (Kuehnen et al. PLoS Genetics 2012).Objective and hypotheses: Here we report about our extended studies to elucidate the mechanism behind the occurrence of the POMC hypermethylation variant in obese individuals.<p clas...

Background: We have identified a novel tandem duplication leading to ubiquitous expression of the agouti-signaling protein (ASIP) in a female patient with severe early onset obesity, red hair, tall stature, and insulin resistance (Kempf, E. et al, 2022). Due to the ectopic expression, ASIP - which normally is only expressed in the skin - can interact with the Melanocortin-4-Receptor receptor in the hypothalamus thereby causing the obesity phenotype. <p cla...

Background: There is preliminary evidence that adrenal steroids other than cortisol may be valuable biomarkers for major depressive disorder (MDD). So far, studies have been conducted in adults only, and conclusions are limited, mainly due to small sample sizes. Therefore, the present study was intended to assess whether adrenal steroids (progesterone, 17-hydroxyprogesterone, 21-deoxycortisol, 11-deoxycortisol, cortisol, cortisone, deoxycorticosterone, cortico...

Background: There is a distinct increase in the prevalence of depression with the onset of puberty. The role of peripubertal testosterone levels in boys in this context is insufficiently understood. Moreover, the number of CAG repeats of the androgen receptor gene (AR) and the depression status (subclinical vs. overt depression) may modulate the role of testosterone, but this has not yet been studied in a clinical sample.Methods:...

The steroid constellation in affective disorders suggests a stress-related pathogenesis or response and may pave the way for novel therapeutic strategies. In adolescents, previous studies have identified hypothalamic-pituitary-adrenal (HPA) axis dysregulation with hypercortisolemia. However, evidence so far is limited to a subset of the steroid spectrum, predominantly focusing on glucocorticoids. In order to gain a more holistic understanding, we analyzed urine metabolites of ...