ESPE Abstracts

Background: Congenital Hyperinsulinism International (CHI) is an international non-profit organization focused on improving the lives of patients and families living with hyperinsulinism (HI). Despite many advances in the care of patients with HI, long term neurologic outcomes have not significantly improved, highlighting the need for CHI’s goals for robust and rapidly translatable research. We describe the development of a collaborative research network...

Background: Mutations in the gene HSD17B3 encoding the 17-beta hydroxysteroid dehydrogenase 3 enzyme cause testosterone insufficiency leading to XY DSD. In this study the clinical characteristics and molecular etiology of 3 new severe XY DSD cases from consanguineous families are elucidated.Clinical report: Three female patients (2 sisters and a single unrelated female) presented at ages 0.1, 8 and 0.7 years with ambiguo...

Background: Hetero- and homozygous mutations in Steroidogenic Factor1 (SF1, NR5A1) cause 46,XY and 46,XX disorders of sex development (DSD), azoospermia, and primary ovarian insufficiency. NR5A1 is also involved in embryonic spleen development, by transactivation of T-cell Leukemia Homeobox 1 (TLX1). Hypo- or asplenism have occasionally been observed in DSD patients with NR5A1 mutations.<p clas...

Background: Thyroglobulin (Tg) is exclusively synthesised by thyroid tissue and a potentially useful aid to diagnosis in congenital hypothyroidism (CH). However, its role has yet to be fully evaluated.Objective: To examine the sensitivity and specificity of Tg in helping define the etiology of CH.Patients and methods: Tg was measured in a single laboratory by Immulite 2000 chemiluminescent immunometric assay (CVs 9.8, 5.7 and 5.7% ...

Background: Usually a diet plan includes meals with suitable glycaemic index together with sophisticated insulin delivery for balanced sacharides-insulin intake. Nevertheless, the need of controlled sugar release is urged in specific day-to-day life situations, especially for young children with diabetes. Nocturnal hypoglycaemia, parental fear of insufficient snack intake in nursery, sports with prolonged race periods and others are amongst these life situations.<p class="...

Introduction: Primary ovarian Insufficiency (POI) occurring in youth is a devastating condition. POI is characterized by at least 4 months of disordered menses in association with menopausal follicle stimulating hormone (FSH) levels. The most common causes of POI in adolescence are iatrogenic and chromosomal abnormalities. Data are scarce regarding the incidence of POI in adolescents.Objectives: We aimed to estimate the incidence and the distribution of ...

Short stature is diagnosed when height is significantly below the average of the general population for that person’s age and sex. To elucidate the factors that modify disease severity/penetrance in short stature, we have studied a three-generation family with SHOX deficiency. We have found that the retinoic acid degrading enzyme CYP26C1 is a modifier for SHOX deficiency phenotypes towards the more severe clinical manifestations (Leri-Weill dyschondrosteosis) and confirme...

Background: Children born small for gestational age (SGA) are at increased risk of coronary heart disease and type 2 diabetes in adulthood, due to reprogramming of endocrine and metabolic functions. Dysregulation of specific miRNAs in response to genetic and environmental factors contribute to aberrant gene expression patterns underlying metabolic dysfunction.Objective and hypotheses: We aimed to identify miRNAs associated with increased risk of obesity ...

Background: Multiple anterior pituitary hormone deficiency (MPHD) may present in the newborn period or in early infancy with hypoglycemia, prolonged cholestatic jaundice micropenis, undescended testes due to GH, ACTH, and LH deficiency. Central hypothyroidism is becoming manifest later, less severe than primary hypothyroidism, usually without intellectual impairment. A male patient was admitted to our clinic with severe short stature at the age of 2 years, born with normal len...

Background: Radioactive iodine (RAI) therapy has become the preferred treatment for Graves’ disease in children. Its use has found favour due to the risk of adverse effects in medical management and the invasiveness of thyroidectomy. Side effects of RAI in adults are well-documented and include dry mouth, sore throat, and neck pain. With its relatively recent application to paediatric patients, there is not a complete understanding of adverse effects in the paediatric pop...