ESPE Abstracts

Background: Glucokinase (GCK) acts as the glucose sensor of β-islet cells, regulating insulin secretion in response to changing glucose concentrations. Homozygous GCK mutations are a rare cause of permanent neonatal diabetes. Heterozygous mutations lead to GCK MODY, causing mild hyperglycaemia, not usually requiring treatment.Case: The index case was born to consanguineous parents at 36+2 weeks gestation, weighing 1610 g (0.4th centile). Hy...

Background: Homozygous mutations in STAT5B result in GH insensitivity and immune dysfunction. Heterozygous dominant negative mutations have not been described.Aims and objectives: To characterize genomic STAT5B DNA in two families exhibiting short stature.Methods: Sanger sequencing of STAT5B from genomic DNA. Mutant STAT5B constructs were expressed in HEK293 cells.Results: ...

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...

Background & Objective: Recombinant human insulin like growth factor 1 (rhIGF1) therapy is the only treatment available for primary IGF1 deficiency and related disorders. However, it’s efficacy in promoting growth is controversial and needs cautious monitoring for adverse effects. The aim of this study was to determine the long-term efficacy and safety profile of rhIGF1 therapy.Methods: Retrospective review of a...

Background: Glucocorticoids play an important role in the developing fetus; the most important of which is lung maturation by increasing surfactant production and release. Glucocorticoid receptor (GR) functioning changes throughout the fetal period, especially during the transition to extrauterine life. Given the importance of glucocorticoids in lung development and functioning, studying glucocorticoid sensitivity (GS) in this population would be helpful, especially in the pre...

Background: Graft versus host disease (GVHD) is a complex disease resulting from donor T-cell recognition of a genetic disparate recipient, which is unable to reject donor cells after allogeneic transplant. Glucocorticoids (steroids) are the mainstay of acute GVHD therapy. Glucocorticoid resistance has been characterized in several inflammatory conditions including asthma, rheumatoid arthritis, systemic lupus, erythematosus, ulcerative colitis, and Crohn’s disease. Glucoc...

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 ...

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 ...

Background: Characterization of testicular adrenal rest tumours (TART) are one of the major long-term complications in congenital adrenal hyperplasia (CAH) patients. Although several adrenal-like properties have been assigned to these benign lesions, the exact etiology has not been established yet.Objective and Hypotheses: The aim of this study was to analyze several (steroidogenic) characteristics of TART tissue which may be classified as adrenal cortex...

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...