ESPE Abstracts

Background: Phosphoglucomutase 1 (PGM-1) deficiency is a congenital disorder of glycosylation caused by an impairment of glucose-1-phosphate and glucose-6-phosphate interconversion.The clinical phenotype of PGM1 deficiency is variable and includes several endocrine manifestations such as recurrent hypoglycemia and short stature, which may be associated with the decreased levels of growth hormone (GH), insulin like growth factor-1 (IGF1) ...

In children with X-linked hypophosphatemia (XLH), excess circulating fibroblast growth factor 23 (FGF23) causes hypophosphatemia with consequent rickets, skeletal deformities, and impairments in growth and mobility. Compared to continuation with conventional therapy (oral phosphate and active vitamin D [Pi/D]), switching to treatment with burosumab, a fully human monoclonal antibody against FGF23, showed significantly greater improvement in phosphate homeostasis, rickets sever...

Objectives: No validated achondroplasia (ACH)-specific patient reported outcome (PRO) or clinician-reported outcome (ClinRO) measures are available. A detailed review of generic PRO and ClinRO measures was performed to select relevant tools for further evaluation in a qualitative study.Methods: Published literature describing medical challenges and impacts among children with ACH was reviewed to identify important concep...

Introduction: Cardiovascular disease (CVD) is the major cause of morbidity and mortality in type 1 diabetes (T1D). Recent studies implicated deregulated phosphate homeostasis in the etiology of CVD. The objective of this study is to address the relationship between the phosphate-regulating hormone fibroblast growth factor 23 (FGF23) and cardiovascular risk factors in adults with and without type 1 diabetes (T1D).Methods:...

Iodine is an essential dietary micronutrient required for thyroid hormone synthesis and neurodevelopment in utero. Evidence of iodine insufficiency among British women is of particular concern in the context of pregnancy. The Mothers and Babies at Yorkhill (MABY) study is a Glasgow-based longitudinal cohort study assessing the iodine and thyroid status of pregnant women and their offspring.Pregnant women were recruited from antenatal clinics (20...

Daily injections are required for human growth hormone (GH) replacement therapy. Somapacitan is a long-acting GH derivative being developed for once-weekly dosing in adults and children using a proven protraction method, currently successfully in use to extend the half-life of insulin and glucagon-like peptide 1.To evaluate the efficacy and safety of three different once-weekly somapacitan doses compared with Norditropin®, a daily GH, ove...

Objectives: PATRO Children is an observational, international, longitudinal study of the long-term safety of a recombinant human growth hormone (rhGH; Omnitrope®, Sandoz). In particular, the study will assess the impact of rhGH on glucose metabolism and risk of malignancies. Long-term effectiveness is a secondary objective.Methods: The study population includes infants, children and adolescents receiving ...

Background: Hyperinsulinism/hyperammonaemia (HI/HA) syndrome is associated with postprandial hypoglycaemia and mild hyperammonemia. There is increased insulin release following protein ingestion, which is amenable to diaxozide therapy. While developmental delay and normoglycaemic seizures can also occur, hepatomegaly has not been reported. We report a child with HI/HA and hepatomegaly, mild learning difficulty and obesity, who was initially mistaken to have glycogen storage di...

Background: Two siblings of non-consanguineous parents presented with FGD, demonstrated by ACTH resistance with glucocorticoid but not mineralocorticoid deficiency. The proband presented at 21 months, unresponsive with hypoglycaemia (BGL 1.5 mmol/l). Endocrine evaluation subsequent to resuscitation indicated adrenal insufficiency with elevated ACTH. Hydrocortisone therapy was commenced. A sibling, 4 years younger than the proband had a short Synacthen test (SST) performed on d...

Background: Familiar isolated pituitary adenomas (FIPA) encompasses the familiar occurrence of isolated pituitary adenomas outside the setting of syndromic conditions such as MEN1 and Carney’s complex, and comprise about 2–3% of pituitary adenomas. About 20% of FIPA have mutations in the aryl hydrocarbon receptor interacting protein gene (AIP), usually associated with a worse outcome.Objective and hypotheses: Evaluate the presence of AIP gene m...