ESPE Abstracts

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...

Hypopituitarism is genetically heterogeneous disorder that can affect solely the pituitary gland and its target organs, or it can present with craniofacial, brain, and/or neurosensory abnormalities. Mutations in over thirty genes are reported to cause hypopituitarism and growth insufficiency, yet most cases are unexplained. Mutations in the transcription factor PROP1 are the most common known cause of hypopituitarism in humans. Using Prop1 mutant mice we discovered th...

Introduction: Osteonecrosis can be a debilitating consequence of treatment for acute lymphoblastic leukaemia (ALL), most commonly affecting patients aged between 10 and 20 years at diagnosis of malignancy. Patients may have asymptomatic lesions that spontaneously regress, and little is known about the natural history of lesions. There is also limited understanding of the relationship between osteonecrosis and other markers of bone health.Aims: The aims o...

Introduction: Hyperostosis-hyperphosphataemia syndrome (HHS) is a rare autosomal recessive condition caused by inactivating mutations in the GALNT3 gene, characterised by elevated serum phosphate and 1,25(OH)2 vitamin D, increased urinary tubular reabsorption of phosphate and hyperostosis of long bones.Case report: A 15-year-old boy (weight +1.05 SD; height −0.1 SD) with consanguineous parents of Palestinian descent, presented w...

Background: Congenital multiple pituitary hormone deficiency (MPHD) arises from defects in pituitary development and is sometimes associated with craniofacial abnormalities. Mutations in the transcription factor PROP1 are the most common known genetic cause of the disorder. In this case the course of disease is progressive, and can lead to life threatening adrenal insufficiency.Objective and hypotheses: Our objective is to understand the role of PROP1 in...

Background: Many epidemiological studies have found high prevalence of vitamin D deficiency in children with type 1-diabetes mellitus (T1D). 1,25(OH)2D is a potent immune-modulator that also enhances the production and secretion of several hormones, including insulin. The association of low serum 1,25(OH)2D levels with high glucose level and diminished insulin sensitivity suggests that vitamin D may modulate insulin metabolism.Aim and objectives: To scre...

Introduction: Glucocorticoid replacement has been the main focus of research in congenital adrenal hyperplasia (CAH). However, few studies have focused on mineralocorticoid replacement.Aim: Evaluation of mineralocorticoid replacement in a large cohort (n=124) with CAH recruited retrospectively over a 10-year (2010-2020) period.Methods: We recruited 124patients (71female, 5...

Introduction: Ectopic posterior pituitary (EPP) is a radiological diagnosis likely caused by a migration defect that occurs during pituitary development. We aim to describe the clinical characteristics and hormonal deficiencies seen in patients with EPP.Method: Longitudinal observational study performed in a single [HK1] [NM2] centre from 1993-2020. As per MRI findings, cases were divided into three cohorts 1) C1: EPP on...

Background: Pituitary apoplexy is a clinical syndrome caused by haemorrhage of the pituitary gland, typically characterised by acute confusion, headache, vomiting and visual disturbance. It is regarded as a medical emergency. It is rare in childhood and adolescence, occurring in association with pituitary tumours. We report an unusual case of pituitary apoplexy associated with a cerebral infarction secondary to internal carotid artery compression.<p class=...

Background: Oxidative stress has been implicated in the development and progression of complications in type 1 diabetes (T1DM). Vitamin E (α-tocopherol) undergoes β-oxidation of its chomanol ring and the resulting metabolite α-TLHQ has been proposed as a potential biomarker of oxidative stress. HbA1c relates in T1DM to microvascular complications predominantly although the end-points are late in disease development. The oxidative stress process may act independe...