ESPE Abstracts

Background: The incidence of Graves’ disease in patients aged <15 years is estimated at 0.9 per 100,000. Parental anxiety around definitive treatment, timing of this around schooling and clinician confidence in long-term medical treatment often results in prolonged medical management. This audit aimed to assess the rates of remission, timing of definitive treatment and long-term medical management in children managed for Graves’ at a UK tertiary...

Background: Hypopituitarism in children is a complex condition and its hierarchical evolution at different developmental windows is unpredictable. Magnetic resonance imaging (MRI) is helpful but largely a subjective assessment of anomalies of the hypothalamo-pituitary (H-P) structures. We aimed to test the utility of a quantitative measure of pituitary and stalk in predicting neuroendocrine phenotypes.Patients and Methods:</stron...

Background: Hypothalamic dysfunction (HD) is life-threatening but precise diagnostic tools are lacking. Normal hypothalamic anatomy is difficult to delineate on MRI. Damage to the area is inferred from a visible lesion, but how widely it disturbs signalling connections or correlates with symptoms is unclear. Furthermore, in congenital/syndromic diseases the hypothalamus appears normal even in cases with clear HD. We aimed to develop novel clinical and radiolog...

Introduction: Coffin-Siris Syndrome (CSS) is a rare multisystem genetic disorder which arises from genetic abnormalities within genes encoding for the SWI/SNF complex (ARID1A, ARID1B, DPF2, SMARCA4, SMARCB1, SMARCA2, SMARCE1). Endocrinopathies have been associated with CSS, including idiopathic short stature, hyperinsulinism, obesity, growth hormone deficiency, and cryptorchidism. Here, we describe the endocrine features of a series of children with S...

Introduction: Ectopic posterior pituitary (EPP) is a neuroimaging diagnosis frequently identified together with other hypothalamo-pituitary (H-P) abnormalities [hypoplastic anterior pituitary and thin interrupted stalk -Pituitary Stalk Interruption Syndrome (PSIS)] and associated with variable endocrine phenotypes evolving over time. We aim to describe the spectrum of hormonal deficiencies and neuroimaging abnormalities in a large cohort of children with EPP.<...

Background: The diagnosis of GH deficiency is challenged by the suboptimal accuracy of GH stimulation tests. Overnight GH sampling (OGS) may be useful in the diagnosis of growth disorders.Objectives: To establish if 1) the reduced number of spontaneous overnight GH profile peaks (SOGPP) is associated with hypothalamo-pituitary (H-P) abnormalities on MRI, 2) these children benefit from GH treatment....

Background and aim: Phenotypes of Hypothalamo-Pituitary (H-P) dysfunction are heterogenous and unpredictable. Through novel neuroimaging segmentation, we quantified anatomical alterations of each discrete component (hypothalamus, stalk, and pituitary) to better elucidate the origin and phenotype of different congenital and acquired HP disorders.Methods: We compared 66 patients (35M/31F) aged 12.4 &pm; 3.1 years, followed...

Background: Hypothalamo-posterior-pituitary (HPP) disorders are complex, life-threatening, and often of uncertain pathogenesis. Oxytocin and AVP/copeptin share production and storage sites, but they are difficult to measure in biological fluids. Correlation with HPP neuroimaging abnormalities has not been previously determined.Aim: To correlate unstimulated plasma copeptin/oxytocin with hypothalamic volumes/PP location i...

Introduction: Congenital adrenal hyperplasia (CAH) describes a rare group of inherited conditions caused by enzyme defects within the steroid biosynthesis pathway. 21-hydroxylase deficiency accounts for approximately 95% of cases. The prevalence of even rarer forms of CAH varies according to geographical location and ethnicity.Aims: To report the clinical characteristics of rare forms of CAH under the care of a tertiary ...

Context: Biallelic RNPC3 variants have been reported in a few patients with growth hormone deficiency, either in isolation or in association with central hypothyroidism, congenital cataract, neuropathy, developmental delay/intellectual deficiency, hypogonadism and pituitary hypoplasia.Objective: To describe a new case with syndromic congenital hypopituitarism and diffuse brain atrophy due to RNPC3 mutations and to compar...