ESPE Abstracts

Background: Hypothalamic hamartomas(HH) are rare heterotopic congenital malformations causing central precocious puberty(CPP) and/or resistant epilepsy whose natural history is unknown.Aim: To describe clinical and imaging features, and the risk of developing endocrine deficits, particularly after surgery.Method: Retrospective case note and imaging review of all HH diagnosed by MRI between 30.08.1991 and 24.11.17, analysed by initi...

Background: Hypothalamic hamartomas(HH)-rare heterotopic congenital malformations (incidence 1:200 000)-present with central precocious puberty (CPP) or gelastic seizures (GS) but their natural history and best treatment strategy are unknown. Given their proximity to the hypothalamus–pituitary axis, wider endocrine dysfunction may be expected.Objective and hypotheses: To describe clinical features and any evolving endocrinopathies in HH patients, by...

Background: Transsexuality during childhood/adolescence is a complex condition usually ending in dysphoria (GD). The prevalence of transgenderism is increasing in Pediatrics. In the process of sexual reassignment, a correct pharmacological treatment and the knowledge of possible consequences are necessary.Objetive: The objective of this study is to present the evolution of the physical and analytical characteristics and side effects in Transgender childr...

Sex-steroid hormones such as testosterone and estradiol play a key role in sexual differentiation during gestation but exert also strong effects on the body and the brain during puberty or even in adulthood. In addition, influences on cognition and emotional processing are frequently reported. The investigations of transgender people undergoing cross-sex hormone therapy provide a unique model for studying those effects on gray and white matter brain structure in vivo by using ...

Background and aims: The introduction of next-generation sequencing (NGS) as an essential tool for the routine molecular diagnosis of DM has highlighted the under-diagnosis of monogenic diabetes mellitus (MonDM). Accurate molecular diagnosis of the MonDM subtype has important implications for prognosis and choice of treatment, family counseling and health management, enabling precision medicine. The main objective was to clinically and molecularly characterize...

Background: In gender dysphoric adolescents GnRH agonists can be used to suppress pubertal development of the natal sex. Subsequently cross sex hormones can be given to induce pubertal development of the experienced gender. Only few data are available on the safety of this treatment. Lipid levels are known to increase during puberty and pubertal suppression may alter this increase. In gender dysphoric male-to female (MtF) adults oestrogens has been shown to result in a more fa...

Background: Current guidelines recommend that gender dysphoric adolescents be treated with puberty suppression using gonadotropin releasing hormone analogues (GnRHa) followed by cross sex hormones. However limited data are available on the safety and side effects of this treatment. In adults changes in adrenal steroids have been observed during cross sex hormone treatment.Objective and hypotheses: We aimed to investigate the effect of GnRHa and cross sex...

Background: Transgender adolescents may be treated with gender affirming hormone therapy (GAHT) consisting of gonadotropin-releasing hormone agonists (GnRHa) and cross-sex hormones. Limited data are available regarding the metabolic effects of GAHT in adolescence.Objective: To evaluate the lipid profiles and HbA1c in transgender adolescents after one year of cross-hormone treatment.Patients...

Background: PanEuropean(SIOP) trials of treatment for childhood brain cancers (medulloblastomas/PNET) showed a 5% survival advantage with ‘sandwich’ gonadotoxic chemotherapy (CT) over surgical excision, neuraxial radiation and tumour boost (RT) alone. But this was tempered by a reduced quality of survival at 7 years.Objective: To assess the long term prevalence of subfertility after CT with/without neuraxial radiation.<p class="a...

Background: Recent research has demonstrated earlier testicular and pubertal development in Western boys. New ultrasound-based references of testicular growth in Norwegian boys are now available. Population specific references for FSH, LH and sex steroid hormones have not been previously available in Norwegian children and adolescents.Objective and hypotheses: We aimed to provide an elaborate description of pubertal development in a sample of contemporar...