ESPE Abstracts

Background: The human foetal adrenal (FA) undergoes vast physiological changes as pregnancy progresses. Original descriptions of FA development emerged following morphometric studies from spontaneous/medical terminations. These revealed the greatest increase in FA size was during the first trimester. Recently, sonographic evaluation of human FA volume and length has led to the creation of normal FA growth centiles and correlations between FA size and estimated foetal weight (E...

Adrenoleukodystrophy (ALD) is an X-linked, metabolic disorder caused by genetic deficiency of peroxisomal ALD protein resulting in accumulation of very-long chain fatty acids (VLCFA) primarily in the adrenal cortex and central nervous system. Approximately 35–40% of boys with ALD develop cerebral ALD (CALD), which causes rapidly progressive cerebral demyelination, loss of neurologic function, and death. Disease progress can be halted by allogeneic hematopoietic cell trans...

Introduction: Childhood prolactinomas often occur as aggressive macro (1–4 cm) or giant (>4 cm) tumours, with little consensus regarding timing of optimal therapies.Aim: To highlight the phenotype and treatment outcome of childhood macroprolactinomas.Subjects and methods: Case-note review of 10 (five male) children (<18 years) (presenting to our centre between 2009 and 2017 with hyperprolactinaemia due to macro/giant-p...

Background: Nonsurgical development of nasal cerebrospinal fluid (CSF) leaks may occur in the setting of pituitary adenomas, especially following a favorable response of invasive prolactinomas to initiation of Dopamine Agonist (DA) therapy, but this has not previously described in children.Case description: A girl of Srilankan origin, aged 13.8 years, whose parents spoke no English, presented with headaches and secondary amenorrhea. Pituitary MRI reveale...

Background: Measurement of salivary glucocorticoids is an accepted method for testing adrenal function and is gaining popularity as it offers a non-invasive collection technique, enabling sampling in the community or home environment, allowing tailored capture of steroid circadian rhythm and improved patient experience. However, there is little data on stability during home collection and sampling methods in young children. Current salivary collection techniqu...

The CYP19A1 gene product cP450aromatase enzyme is responsible for estrogen synthesis and androgen/estrogen equilibrium in many tissues; placenta and gonads are being the leading tissues. cP450aromatase deficiency has important effects on clinical phenotype due to excessive amount of androgen accumulation and insufficient estrogen synthesis in the pre- and postnatal periods. We identified a new point mutation in the CYP19A1 gene causing aromatase deficiency in three Turkish fam...

Background: Craniopharyngiomas are the commonest pituitary tumours of childhood. Though benign histologically, their localisation and invasive tendency can cause significant neuroendocrine morbidity and late mortality.Objective and hypotheses: To prospectively determine risk factors for neuroendocrine morbidity by longitudinal survival analysis.Method: All children with craniopharyngioma newly presenting to our quaternary centre be...

Background: Paediatric HPAT, though generally benign, incurs significant neuro-endocrine morbidity. Their management is unclear and the paediatric neuro-oncology or adult pituitary forum at which they are discussed lack pituitary or age-specific expertise respectively. The UK National HPAT Interest Group has pioneered a monthly, multi-site, interdisciplinary, video conferencing decision-making forum, to garner necessary experience and evidence of outcomes to assist worldwide r...

Background: Childhood tumours of the hypothalamic pituitary axis (HPATs) are very rare and hence any single centre experience is limited. Without evidence-based guidance, treatment is individualised on a case basis. Survival rates are high, but at the expense of significant morbidity. Centralised care or wider multi-professional consultation may improve neuroendocrine and visual outcomes.Objective and hypotheses: i) To facilitate multi-professional dialo...

Background: Cushing’s syndrome (CS) in children remains a challenge to diagnose and exclude. Published diagnostic guidelines for CS are heavily based upon adult data. The use of 24-h urinary free cortisol (UFC) measurements in the diagnosis of adult CS may have limited use. There is little data on the utility of 24-h UFC in children.Objective and hypotheses: We hypothesised that 24-h UFC is a robust and reliable screening test in children. The study...