ESPE Abstracts

Background and Methods: PCOS is common and associated with significant comorbidity. However, its pathogenesis is complex and poorly understood. We have developed new methods for deep phenotyping discovery proteomic profiling of urine, aiming to identify disease mechanisms, drug targets and novel non-invasive biomarkers for PCOS in adolescents. Here, we present the baseline proteomic data from our prospective, longitudinal study (n=40). We undertook proteomic analysis ...

Introduction: The human adrenal gland originates from the adrenogonadal primordium at around 4 weeks post conception (wpc) and undergoes marked developmental changes throughout the first half of pregnancy. Several key aspects of adrenal maturation are well-established, such as the formation of a large inner fetal zone (FZ) and synthesis of dehydroepiandrosterone, but many other processes contributing to adrenal gland development and function in humans are stil...

Background: Congenital Hyperinsulinism International (CHI) is an international non-profit organization focused on improving the lives of patients and families living with hyperinsulinism (HI). Despite many advances in the care of patients with HI, long term neurologic outcomes have not significantly improved, highlighting the need for CHI’s goals for robust and rapidly translatable research. We describe the development of a collaborative research network...

Background: TSH-secreting pituitary adenomas are rare, accounting for less than 2% of all pituitary adenomas. Their diagnosis may be difficult when a coexistence of other diseases masks the typical clinical and biochemical manifestations of TSH-hypersecretion.Objective: To report a case of a TSH-adenoma without signs/symptoms of hyperthyroidism due to underlying autoimmune thyroid disease.Results: Patient is a 17 year old male who ...

Background: Severe short stature is considered when height falls below −4 SDS. When infants with extreme short stature are evaluated, often multidisciplinary input is required, before a formal diagnosis is met.Objective and hypotheses: We want to learn from delayed diagnosis of child with panhypopituitarism and review subsequent difficulties in starting GH treatment.Method: Retrospective review of notes, investigations and pa...

Background: Neonatal hyperthyrotropinaemia (HT) is defined by elevated TSH and normal fT4. HT is an increasingly common diagnosis and may be transient or permanent. There is a often a diagnostic dilemma whether to treat to prevent subclincal hypothyroidism or to wait thereby avoiding the risks of iatrogenic hyperthyroidism.Objective and hypotheses: To examine a large population of infants referred to a tertiary centre over one year and determi...

NMDA (N-Methyl-D-aspartic acid) receptors have been shown to control the timing of sexual maturation in laboratory animals. Therefore, variants in genes impacting NMDA receptor signaling might be predicted to affect human puberty. We studied an extended family with extremely delayed puberty (menarche at 16.5 - 18 years for female family members and pubertal onset at 16 years for male family members). Exome sequencing revealed a rare missense variant (F900V) in DLG2, w...

Objectives: To discuss all challenges involved with providing children (including the very young) and adolescents with diabetes (CwD) with the latest appropriate technology, such as automated insulin delivery systems (AIDs), to manage their blood glucose and help improve their quality of life and suggest ways in which access to new types of devices available to adults can be improved for children with T1D.Methods: In con...

Introduction: Prader-Willi Syndrome (PWS) is a complex neurodevelopmental genetic disease comprising multiples cognitive, behavioural and endocrine abnormalities. This rare syndrome is one of the most common known reasons of syndromic obesity, a major cause of morbimortality among this population. In the last 20 years, substantial improvements have been made regarding the diagnosis, treatment and management of patients with PWS. Along those progresses, national policies were d...

Standard management of Adrenal Insufficiency (AI) in children is with hydrocortisone (HC). Under or over-treating impacts on growth and quality of life. Until recently, treatment involved dissolving 10mg HC tablets in water; this is time consuming and may give inaccurate doses. We have offered HC granules (Alkindi) to all new patients ≤6-years since January 2019 and 22 patients who were currently dissolving HC tablets. We have reviewed our patients’ experience with Al...