ESPE Abstracts

Introduction: Patients carrying homozygous IGF1 loss-of-function mutations are extremely rare and show severe pre- and postnatal growth failure, microcephaly, developmental delay, retrognathia and sensorineural deafness. Heterozygous variants in IGF1 appear to be more common in short stature, but only few cases have been reported in detail. Therefore, clinical features and growth response to recombinant human growth hormone (rhGH) therapy are...

Introduction: Adrenarche is characterized by the activation of androgen precursors which are released from the zona reticularis of the adrenal gland. Dehydroepiandosterone (DHEA) is a weak androgen and its conversion to slightly more potent androgens such as Dehydroepiandosterone- sulfate (DHEA-S) is thought to be responsible for the clinical signs of adrenarche. Premature adrenarche is one of the most common endocrine abnormalities causing concern among perip...

Background: There is a clear need for improved patient-centric approaches in the treatment of chronic conditions, including paediatric growth hormone deficiency (GHD). Greater understanding of the patient’s treatment journey has the potential to inform clinical decisions and to improve clinical- and patient-reported outcomes. Connected Health (CH) combines state-of-the-art technologies, tools, methodologies and analytics to create new patient-centric hea...

Introduction: Craniopharyngioma, a benign tumor, develops in the sellar/parasellar region. Diagnosis is usually late. Symptoms include severe headaches and vomiting, visual impairment, visual and olfactory hallucinations and at least one hormonal deficiency. Celiac disease is caused by an immune reaction triggered by gluten in the small intestine. Over time, due to inflammation, it causes malabsorbtion which can affect growth in children.<p class="abstext"...

Objective: The purpose of this study was to describe baseline data on etiological diagnosis of Disorders of Sex Development (DSD) in Kenyan children and adolescents.Methods: This retrospective study included 71 patients diagnosed with DSD who presented at ages 0–19 years from January 2008 to December 2015 at the Kenyatta National (KNH) and Gertrude’s Children’s (GCH) Hospitals.Results: Thirty-nine (54.9%) children ha...

Study Objective: To describe the clinical presentation and characteristics of DSD in Kenyan children and adolescents.Methodology: This retrospective observational study was carried out at Kenyatta National hospital and Gertrude’s Children’s Hospitals involving 71 patients age 0–19 years with DSD enrolled in the clinics between January 2008 to December 2015.Results: The mean age at the time of diagnosis was 2.7 years ...

Introduction: Hyperostosis-hyperphosphataemia syndrome (HHS) is a rare autosomal recessive condition caused by inactivating mutations in the GALNT3 gene, characterised by elevated serum phosphate and 1,25(OH)2 vitamin D, increased urinary tubular reabsorption of phosphate and hyperostosis of long bones.Case report: A 15-year-old boy (weight +1.05 SD; height −0.1 SD) with consanguineous parents of Palestinian descent, presented w...

Background: Vitamin D deficiency has been found to occur in peoples of all ages worldwide, including those living in sunny climates. Sun exposure is the main source of this vitamin for many people but its utilization is influenced by many factors such as lifestyles and availability of sunlight. The breastfeeding infant is particularly at increased risk of deficiency because of its dependence on maternal stores.Objective and hypotheses: The hypothesis for...

Introduction: The prevalence of diabetes in Trinidad and Tobago (T&T) exceeds 12%. Monitoring of HbA1c is standard of care to assess diabetes control but assay reliability requires high precision and standardization to either DCCT or IFCC values and results should be monitored through proficiency testing (PT). In T&T a developing country there is no existing data on HbA1c precision and accuracy. Johns Hopkins Medicine International and the Diabetes Diagnostic Laborator...

Background: The incidence of perinatal stress hyperinsulinism (PSHI) requiring diazoxide treatment is estimated to be 1:12,000 (Hoe et al., 2006). Diazoxide is used to treat PSHI, but it has been shown to have adverse effects including pulmonary hypertension. Gray et al, reported that of 1.25 million infants admitted to NICUs for hypoglycemia over a period of 18 years, only 1066 received diazoxide suggesting 1:1172 babies had HI however 92% o...