ESPE Abstracts

Background: A 60-day-old infant with genital ambiguity was assessed in the multidisciplinary urogenital clinic. The baby was born full term and weighed 3.4 kg at birth. The antenatal history was noncontributory. On physical examination, there was no obvious dysmorphic features. On genitourinary exam, there was a well developed scrotum that was bifid, with rugae and pigmentation. There was penoscrotal transposition. His phallus was of a normal breadth and length with ventral cu...

Background: Graves’ disease (GD) involves autoimmunity against TSH receptor (TSHR) bearing cells, leading to hyperthyroidism and often orbitopathy. When hyperthyroidism is treated with radioactive iodine (RAI), exacerbation of the orbital disease can occur.Objective and hypotheses: We hypothesized that RAI has immune effects affecting the balance between auto-reactive T cells and T cells with regulatory properties.Method: We m...

Diabetes mellitus is a chronic disease. The risk of microvascular complications is correlated with hemoglobin A1c (HbA1c) level [1] Educating the diabetic patient to keep an HbA1c below 7% reduce the risk of long-term complications. We report the case of a 15 years old teenager, with chronical headache, referred for diabetes mellitus with a fasting glycemia of 83 mg/dl (normal < 100) and an HbA1C of 8.3% using an Ion-exchange High Performance Liquid Chromatography (HPLC, Ad...

Background: Silver-Russell syndrome (SRS) is a heterogeneous syndrome characterized by severe intrauterine and postnatal growth retardation and typical dysmorphic features. The major abnormality is the hypomethylation of paternal allele of 11p15 imprinting centre region 1. In 10% of cases a maternal uniparental disomy of chromosome 7 (UPD7) can be detected. Speech delay and learning difficulties have been reported in these patients.Objective and hypothes...

Context: Silver-Russell syndrome (SRS) is a rare imprinting disorder responsible for foetal and postnatal growth restriction. It is a clinical diagnosis based on Netchine-Harbison clinical scoring system in patients presenting with ≥ 4 items out of 6. Some of the items in this score are not assessable until the age of two years, such as growth retardation or feeding difficulties and body asymmetry can be difficult to identify in the first months of life. Ch...

Background: Daily r-hGH injection has been safely and effectively used in paediatric patients with GHD for more than 30 years. However, little information is available describing the burden and life impacts experienced by paediatric patients related to daily r-hGH injections.Objective: To identify the burden and impacts of a daily r-hGH injection regimen on the lives of paediatric GHD patients.Methods: A retrospective meta-analysis...

Background: Vitamin D deficiency in children is a common cause of rickets, and a potential risk factor for extraskeletal adverse health outcomes. Its prevalence in Haiti has not been assessed.Objective and hypotheses: To examine the prevalence of vitamin D deficiency in dark-skinned young children in Haiti.Method: Cross-sectional study of healthy Haitian children 9 months to 6 years across thr...

Background: Children living with paediatric endocrine conditions in resource-poor countries experience inequitable rates of preventable mortality and morbidity. Reducing preventable mortality will help member states committed to delivering on the United Nations’ Sustainable Development Goals 3.2.1, 3.2.2 and 3.4. CLAN (Caring & Living As Neighbours) has been improving health outcomes for children living with CAH in resource poor countries since 2004,...