ESPE Abstracts

Background: ROHHADNET syndrome is characterised by rapid onset childhood obesity, hypoventilation, variable hypothalamic-pituitary and autonomic dysfunction, and neuroendocrine tumors in 30–40%. Autoimmunity and paraneoplastic syndrome have been proposed as possible pathophysiological mechanisms, but the exact aetiology remains unclear.Objective and hypotheses: We present the clinical course of ROHHADNET syndrome in a 17-year-old girl, with consecut...

Background: In diabetic athletes, glycogen depletion can contribute to the early development of starvation ketones as is demonstrated by our patient.Case presentation: Our patient, a 15-year-old male triathlete with type 1 diabetes for 5 years was referred to our tertiary center because of suboptimal regulation on continuous subcutaneous insulin infusion (CSII). He frequently awoke with nausea and ketosis, which was initially attributed to failure of ins...

Pediatric severe obesity is a major threat to health and longevity. Around 7% of children worldwide have early onset severe obesity before the age of 7. Pediatric obesity is caused by an interplay of multiple factors: lifestyle, environmental, sociocultural, psychological, biological and genetic factors. Endocrine, monogenetic or syndromal causes are rare, but currently underdiagnosed and important to identify for the need of specific treatment. Cardiovascular risk factors and...

This presentation briefly gives an overview of typical gynaecological issues and fertility options of transgender adolescents.Typical gynaecological complaints and treatment options will be addressed: e.g. amenorrhea induction prior to cross-sex hormones, irregular bleeding, dysmenorrhea, vaginal discharge but also the limitations of gynaecological examination in female asssigned adolescents.National and international organizations...

Central hypothyroidism can be best defined as lower than desirable thyroid hormone production and secretion because of insufficient stimulation of a normal thyroid gland by a defective pituitary or hypothalamus, resulting in a too low plasma or serum (free) thyroxine (FT4) concentration accompanied by a more or less normal thyrotropin (TSH) concentration. Central hypothyroidism can occur isolated or as part of multiple pituitary hormone deficiency and can be a congenital or ac...

Central hypothyroidism (CeH) can be defined as a lower than desirable secretion of thyroid hormone by a normal thyroid gland resulting from (quantitative or qualitative) insufficient TSH secretion. Causes are congenital and acquired functional or anatomic defects of the hypothalamus, pituitary gland or both. CeH can be difficult to diagnose, especially in children without a history of brain defects or brain damaging treatment (e.g. irradiation), and when plasma FT4 concentrati...

The aim of this presentation is to give an overview of motor disabilities in girls with Turner syndrome (TS), the impact on daily life and suggestions for treatment.Girls with TS show substantially lower performance in gross and fine motor function tests and motor milestones are achieved relatively late. Moreover, girls with TS frequently encounter problems in specific motor functioning i.e. oral-motor and visual-motor coordination, motor learning and pr...

Introduction: Growth hormone deficiency (GHD) is the most frequent endocrine deficit in childhood survivors of brain tumours. However, there is insufficient evidence to guide the timing of growth hormone replacement (GHR). At Great Ormond Street Hospital timing is based on clinical need rather than in relation to oncological treatment. Therefore, sufficient variability in GHR timing is available to analyze its effect on tumour progression and recurrence.<p...

Introduction: Growth hormone excess (GHE) in children with neurofibromatosis type 1 (NF-1) has been reported in some sporadic cases. Whether GHE stimulates progressive optic pathway glioma (OPG) growth is of concern. The prevalence of GHE in NF-1 has not been described and the scheme treatment has not been well characterized.Objective: To describe in children with NF-1/OPG and GH excess the treatment regimen and long term response to long- acting octeotr...

Background: TARTs mostly occur in congenital adrenal hyperplasia due to 21-hydroxylase deficiency, but were described in other forms of CAH. Elevated ACTH levels, may play a role in TARTs development. Here we describe the first child with undetected CYP11A1 deficiency who presented with TART.Case description: An 11 year old boy noticed left sided scrotal enlargement, without further complaints. Ultrasound showed a hydroc...