ESPE Abstracts

Background: Pituitary gland duplication is a very rare developmental abnormality. It is often associated with other midline anomalies including cleft palate, spinal cord and corpus callosum defects, termed duplication of the pituitary gland-plus syndrome. Of the only 40 cases reported in the literature, most are in females and are often associated with precocious puberty. Duplication of the pituitary gland may arise from blastogenesis defects, with splitting o...

We characterised the phenotype of PHP patients at two UK tertiary care centres and investigated phenotype-genotype correlations.Method: Retrospective review of case notes for patients with PHP at two UK tertiary care centres.Results: 55 patients, from 41 kindreds, were identified; 32 with PHP1a, 23 with PHP1b. The PHP1a cohort (56% female, 69% White), currently aged 16.7+/-10.6 years, presented at ...

Introduction: Patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) have specific plasma and urinary steroid patterns, with 11-oxygenatedC19 steroids established as key adrenal-specific androgens. Monitoring glucocorticoid (GC) replacement remains a challenge in the absence of reliable biomarkers.Aim: To reassess the urinary steroid profile of children with CAH in relation to plasma ...

Introduction: Congenital adrenal hyperplasia (CAH) is associated with long-term health problems. However, little is known about co-morbidities and their onset in children and young persons (CYP).Objective: To establish the health status of CYP with CAH across the United Kingdom.Methods: A multi-centre prospective study recruited 102 patients with 21-hydroxylase deficiency targeting...

Background: Patients with autosomal dominant hypocalcemia type 1 (ADH1), due to germline gain-of-function calcium-sensing receptor (CASR) mutations, have hypocalcemia and seizures, hyperphosphatemia, hypercalciuria and inappropriately low parathyroid hormone (PTH) concentrations. Treatment for ADH1 comprises calcium and vitamin D analogs, however, their use predisposes to nephrocalcinosis and renal impairment. In contrast, recombinant human PTH(1-34) may incre...

Introduction: Glucocorticoid treatment remains a challenging aspect in the management of congenital adrenal hyperplasia (CAH). Current strategies for monitoring treatment are suboptimal and rely largely on frequent blood tests, which are traumatising in children and young persons (CYP). Recent evidence indicates a crucial role of 11-oxygenatedC19 androgens in the pathogenesis of CAH.Aim: To explore the use of 11-oxygenat...

Background: The variation in the provision of services in secondary and tertiary care for children and young people living with CAH in the United Kingdom is unknown. We aimed to conduct a nationwide service evaluation to inform from both the patient and clinician perspective.Methods: We conducted an anonymous multicentre survey using online questionnaires for clinicians and CAH patients/carers. Clinical leads from UK cen...

Background: Recurrence of craniopharyngiomas influences mortality. Apart from the extent of surgical resection, few clinical parameters have been consistently shown to be associated with recurrence. Radical resection is difficult due to infiltration of surrounding tissue and unacceptable morbidity. Predictors of recurrence are therefore needed.Aim: To establish a multinational cohort of patients with craniopharyngioma an...

Introduction: The reported occurrence and management of acute adrenal insufficiency (AI) – related adverse events (AE) vary widely between centres and may depend on available resources.Aim: To use the data within the I-CAH Registry to understand the association between the occurrence and management of AI related AE, their management and the availability of local resources.Methods:</st...

Background: Pediatric growth hormone deficiency (pGHD) is associated with growth attenuation/deceleration, short stature, delayed bone maturation, and metabolic defects. Daily recombinant human growth hormone (rhGH) treatment promotes linear growth and increases growth rate; however, it may present a substantial burden for patients and caregivers. This may lead to low adherence, limiting the clinical effect of treatment. This study assesses the health-related ...