ESPE Abstracts

Background: Congenital hyperinsulinism is genetic disorder characterized by dysregulation of insulin secretion and it is the most common cause of persistent hypoglycaemia in infancy. The incidence in individuals of northern European extraction is approximately 1:30,000 live births. Published data on the diagnosis and management of congenital hyperinsulinsim in resource limited setting is scarce.Objective and hypotheses: To describe the clinical presentat...

Introduction: The incidence of type 1 and type 2 diabetes mellitus in children and adolescent has been on the rise for the last decades. While the reasons behind these are not known, one possible explanation for the emergence of type 2 diabetes in children is the increase of obesity and decreasing physical activity. Adolescents are at the cross roads between childhood and adulthood and that makes classification of their diabetes mellitus at presentation a diagnostic challenge....

Background: Vitamin D deficiency is a common problem in paediatrics caused by a number of factors ranging from malnutrition, limited exposure to sunlight, chronic illness and chronic medications.Objective and hypotheses: We report on a rare case of Primary Intestinal Lymphangiectasia (PIL) presenting in a tertiary centre in Botswana with Vitamin D deficiency and failure to thrive.Method: A 2 m...

Background: Diabetes mellitus is not characteristic of Beckwith Wiedeman Syndrome (BWS). If anything, BWS is associated with hypoglycaemia secondary to hyperinsulinaemia. A case of permanent neonatal diabetes mellitus and BWS have never been reported from our setting.Objective and hypotheses: To report on a 17 years old boy with BWS diagnosed with permanent neonatal diabetes mellitus at 4 months of age and to determine the molecular genetics study which ...

Background: Access to essential medicines remains suboptimal in Africa. The World Health Organisation (WHO) maintains two non-binding essential medicine lists (EML) (for children and for adults). Individual countries refer to these lists to prepare national EMLs.Objective and hypotheses: To determine which medicines commonly used in pediatric endocrinology and diabetes are included in the WHO and national EMLs in the WHO African region. We hypothesize th...

Background: Pelvic ultrasound is used for the diagnosis and follow-up of girls with precocious puberty (PP). This tool may be somewhat misleading, because during treatment some patients may persist with pubertal uterine and ovarian anatomy. Oestrogens decrease the resistance of the uterine arteries, so Doppler evaluation of these vessels might be a useful complementary exam to determine the effects of treatment in these patients.Objective and hypotheses:...

Objectives and Study: Insulin-like growth factor I (IGF-I) regulates fetal and infant growth and is influenced by nutrition during infancy. Breast fed children have lower IGF-I levels than formula fed infants and the reason is partly explained by lower levels of protein and higher level of polyunsaturated fatty acids (PUFA) in breast milk compared to formula. Environmental factors, such as nutrition, have long-lasting influences on hormone secretion and on future metabolic hea...

Background: Pseudohypoparathyroidism type Ib (PHP-Ib) is due to a maternal loss of GNAS exon A/B methylation and leads to decreased expression of the stimulatory G protein (Gsα) in specific tissues. Evidence suggests an increased incidence of imprinting disorders in children conceived by Assisted Reproductive Technologies (ART). Nevertheless, no associations between ART and PHP – Ib have been found to date.Clinical case: 7.4-years-old male with...

Background: Preterm newborns are at risk of becoming transiently hypothyroxinaemic, which has been associated with neurodevelopmental impairments in childhood. It is not known whether these associations persist into adulthood.Objective and hypotheses: We studied the relation between transient hypothyroxinaemia of prematurity and IQ, neuromotor functioning and problem behaviour at young adult age.Method: This was a prospective study...

Background: Maternal diabetes is a pathologic state that increases the incidence of complications in both the mother and the foetus. Patients with diabetes mellitus (DM) may exhibit reproductive abnormalities, including PCOS and hypogonadotropic hypogonadism. Diabetes during pregnancy is an endocrine disruptor and studies performed in animal models have shown abnormalities in gonadal function in the offspring, but it is unknown whether pre-gestational (PGDM) and gestational di...