ESPE Abstracts

Introduction: Prohormone convertases are a family of proteins that mediate the processing and activation of peptide hormones and neuropeptide precursors. Homozygous mutations of the PCSK1 gene result in prohormone convertase 1 deficiency that is characterized by diarrhea, hypoglycemia, multiple pituitary hormone deficiency beginning from neonatal period and obesity beginning after infancy.Case: A 35-day-old boy was referred to our hospit...

Hypoparathyroidism is treated with oral calcium carbonate and vitamin D analogues to increase serum calcium levels. Recombinant human parathyroid hormone (rhPTH) therapy can be considered in patients with poorly controlled hypocalcaemia or side effects to conventional treatment. Constipation, a known side effect of calcium carbonate, is often easily managed with simple laxatives. We describe resolution of severe constipation by changing conventional treatment to rhPTH. A femal...

Background: Medium chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive fatty acid β-oxidation defect. The enzyme is important in the breakdown of medium chain fats into acetyl-CoA to produce ketones, alternative energy source when glucose hepatic glycogen stores become depleted during prolonged fasting. In MCADD, during periods of fasting/ acute illness, there are insufficient ketones to compensate for the glucose energy deficit, ...

Background: PHP is a rare heterogeneous genetic disorder causing parathyroid hormone (PTH) resistance. This condition is caused by deficiency of the α subunit of the protein Gs, encoded by GNAS gene. Clinical classification is based on presence or absence of Albright hereditary osteodystrophy (AHO) and multiple or single hormone resistance, to PHP1a/1c and PHP1b respectively.Objective: To describe the clinical and practical management of a case of P...

Background: GH deficiency (GHD) occurs in one in 4000–one in 10 000 children, but can also be diagnosed in adults.1 GHD therapy typically requires injections over a period of years.2 Adherence to long-term GHT presents a challenge.Objective and hypotheses: This study describes the rates of adherence to GHT among patients with GHD.Method: Members who were continuously enrolled 6 months pre- and 12 months p...

Background: Autoimmune thyroid disease (AITD) is the most common thyroid disorder in the paediatric age range. However, the development of thyroid dysfunction in biochemically euthyroid children with positive TPOAbs and associated risk factors is unclear.Objective and hypotheses: To evaluate the evolution of children with positive TPOAbs and normal thyroid function and identify predictive factors for the development of thyroid dysfunction.<p class="a...

Background: The imbalance between oxidant-antioxidant status plays an essential role in the pathogenesis of many autoimmune diseases, including autoimmune thyroid disease (AITD). Studies have described that children with AITD have reduced superoxide dismutase (SOD), glutathione peroxidase (GPx), and significantly low zinc levels. This study assessed the effect of daily zinc supplementation for 12 weeks on thyroid auto-antibodies - thyroid peroxidase antibody (...

Background: Primary ovarian insufficiency (POI) is genetically mediated in up to 30% of cases. Many genes associated with POI have roles in early ovary developmental processes, including meiosis.Objectives: We investigated the genetic mechanism underlying early-onset POI in three young women presenting with absent puberty: two sisters from a consanguineous pedigree and a third unrelated proband.<st...

Background: Septo-optic dysplasia (SOD) is a highly heterogeneous condition with a variable phenotype, defined as two or more features of the classical triad: i) optic nerve hypoplasia, ii) midline brain defects, and iii) pituitary hormone abnormalities.Objective and hypotheses: To describe the clinical, endocrine, and neuroimaging features in eight children with SOD.Method: Eight (six males) consecutive patients, diagnosed with SO...

We present the case of a now 11 years old girl with the ultra-rare severe insulin resistance Rabson-Mendenhall syndrome due to the previously undescribed compound heterozygous mutations exon 16: c.2986A>G (Paternal) and intron 9: c.2029+1G>T (maternal) of the insulin receptor gene. The phenotypic findings were composed of dystrophy (birth weight 1970g, small for gestational age), hyperglycemia (up to 400mg/dl), severe acanthosis nigricans and mild cardiac septal hyperpla...