ESPE Abstracts

Background: Thyrotoxic crisis is a rare, emergent complication of paediatric hyperthyroidism. A rare neurological manifestation of thyrotoxicosis is thyroid myopathy.Objective and hypotheses: We report the case of a female teenager who presented to the Emergency Department with thyrotoxic crisis and lower extremity weakness. Our objective is to discuss the course of thyrotoxic crisis and review potential rare neurological manifestations of thyrotoxicosis...

Introduction: Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare cause of childhood hyperthyroidism caused by an activating variant of the thyroid stimulating hormone receptor (TSHR) gene. This disorder may occur as a result of an autosomal dominant inheritance or sporadically through de novo variation. The severity of hyperthyroid symptoms is variable and phenotype differences have been described in subjects harbouring the same mutati...

Introduction: Type 1 diabetes has a major impact on not only the person diagnosed, but also their families/carers. Diabetes control is affected by many factors. Our diabetes patient cohort has a very high level of social burden which we feel impacts significantly on the management of their diabetes.Methods: We performed a retrospective analysis of all young people supported by the Evelina London Children’s Hospital diabetes team in 2017 looking at a...

Background: Congenital heart defects are found in 50% of girls with Turner syndrome (TS). The evaluation of cardiovascular system is an important element in the diagnostic work-up of TS and is of particular significance of cardiologic monitoring, safety aspects of rGH treatment and any pregnancy planning.Objective and hypotheses: Assess the cardiovascular system in TS girls with magnetic resonance imaging of the heart and aorta (CMR and angioMR).<p c...

Introduction: Pituitary gigantism is caused by a somatotroph pituitary tumor that occurs before epiphyseal closure and is associated with increased morbidity due to the systemic effects of chronic hormonal excess. It is an extremely rare disease, with an estimated incidence of 8 per million person-years. Therapeutic modalities for pituitary gigantism are the same as those for acromegaly and include surgery, medication and radiation. Medical treatment plays an ...

Introduction: Growth arrest-specific 6 (Gas6) is a vitamin K-dependent protein produced by several types of cells including adypocytes and regulates their homeostasis. Previous studies indicate that Gas6 signaling may be involved in the pathogenesis of obesity and its complications, including systemic inflammation and insulin resistance. However, little is known about the clinical significance of the Gas6 system in childhood obesity. The aim of the study was t...

Background: Thyroid nodules are quite common in the adult population (13%)but are relatively rarely diagnosed in childhood (0.2-5%).There is a significantly higher risk of malignancy of paediatric thyroid nodules than that in adult patients. The authors of this publication present the observations of the occurrence, diagnosis, and treatment of patients with thyroid nodules in the Department of Pediatric Endocrinology and Diabetology, Medical University...

Background: Gonadotropin-releasing hormone (GNRH) and its receptor (GNRHR) are central regulators of puberty. Loss-of-function mutations of the GNRH-GNRHR signaling pathway are associated with congenital hypogonadotropic hypogonadism, but no mutations were reported so far in patients with central precocious puberty (CPP). Animal data demonstrate the importance of microRNAs in pubertal timing regulation. Among others, miR200b regulates Gnrh1 gene expression in GnRH neu...

Objective: Early genital surgery has been the routine practice in virilized girls with severe forms of CAH for many years. During the last decade studies have shown genital surgery to have unsatisfactory effects on genital sensation and sexuality, and the current practice with early surgery has been questioned by patients and support groups as well as by clinicians and researchers. As surgery has been postponed in only few girls, published data on the effect of hydrocortisone ...

Background: Congenital hypogonadotropic hypogonadism (HH) is a rare but clinically and genetically heterogeneous disease characterized by an absent or incomplete puberty and infertility. The association of HH with hyposmia or anosmia is defined as Kallmann syndrome. Molecular genetic testing of HH is valuable, as it can prompt the treatment in adolescence.Objective and hypotheses: To identify causative variants in genes associated with HH in a cohort of ...