ESPE Abstracts

Background: Automimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is an extremely rare autoimmune condition caused by AIRE (autoimmune regulator) gene mutations and characterised by a classic triad of 1) chronic mucocutaneous candidiasis, 2) hypoparathyroidism and 3) adrenal insufficiency. APECED can involve any endocrine or non-endocrine organ. Consequently, clinicians need to be mindful of the great variability in presentation. Although ad...

Introduction: In Qatar, the prevalence of metabolic syndrome (MetS) in children and adults is increasing in parallel with the markedly increasing trends in obesity rates. We studied the prevalence of different components of MetS, measure plasma atherogenic indexes (AIP), and linear growth in young obese nondiabetic children (< 5 years) in comparison to older obese children (6-12 years).Methods: We analyzed the anthrop...

Langerhans cell histiocytosis (LCH) is a rare disorder of unknown etiology affecting the mononuclear phagocyte system. It is characterized by clonal uncontrolled proliferation and accumulation of immature dendritic cells in different organs. Affected cells express CD1-alpha and/or CD207 (Langerin) on immunohistochemistry. Although bone is the most commonly affected organ (80%), all other organs can be affected either alone or in combination. LCH is classified into Single syste...

Introduction: PTEN Hamartoma Tumor Syndrome (PHTS) is a rare disease with dominant inheritance characterized by benign (hamartoma) and malignant tumors (breast, endometrium, thyroid). Mutations in the tumor suppressor gene phosphatase and tensin homologue (PTEN) gene are responsible for the etiology.Objective: In this case report, we present an 11-year-old male who was being monitored due to follicular thyroid cancer, an...

It is noted that patients with heart disease (HD) are likely to develop abnormal glucose metabolism and this metabolic deterioration usually occurs after middle age. However, we recently had two patients with congenital HD, who developed type 2 diabetes mellitus (DM) in their adolescence.The first patient underwent Fontan operation at 2 years of age for single ventricle and pulmonary atresia. His paternal grandfather had type 2 DM. He noticed polydipsia and polyuria at 15 year...

Objectives: To investigate prognostic markers (age, initial hearing level, karyotype, chronic hormonal therapies, and presence/absence of a mid-frequency dip influence) for hearing loss (HL) in Turner syndrome (TS).Design: Longitudinal cross-sectional and retrospective study.Study Population: 61 TS females (age range 4 - 45 yrs), diagnosed by cytogenetic analysis (49,2% monosom...

Introduction: Wolfram syndrome (WS) is a rare progressive neurodegenerative disease that shows autosomal recessive inheritance characterized by diabetes insipidus, diabetes mellitus (DM), optic nerve atrophy and deafness. WFS1 gene encoding a protein, wolframin, which is essential to the function of the endoplasmic reticulum, is identified as main causative gene of the disease. We report here a sibling case suspected WS with insulin-dependent DM and optic atrophy in early chil...

Background: Advances in genetic analysis techniques has greatly contributed to recent discovery of causative genes associated with overgrowth with intellectual disability (OGID). Tatton-Brown-Rahman syndrome (TBRS) (OMIM #615879) was one of them, characterized by tall stature, a distinctive facial appearance, and intellectual disability. This syndrome was first reported in 2014. Thus, long-term clinical courses are unknown. We present our Japanese case with OGID who was diagno...

Background: Statural overgrowth in SOTOS syndrome is well recognised. However excessive growth away from the usual growth trajectory should prompt assessment for other causes of growth acceleration.Case: TE was referred for a growth assessment at 6.8 years as he appeared to have grown more in the previous year. He was 142.9 cm (Ht SDS +4.32), weight 44.4kg (BMI SDS +2.85). He had no formal genetic diagnosis except that he was clearly dysmorphic with glob...

Background: There is growing evidence of a correlation between fat and bone metabolism at both the clinical and molecular levels, although the systemic regulators have not been clearly identified. The receptor activator of nuclear factor kB ligand (RANKL) and its soluble decoy receptor, osteoprotegerin (OPG), are involved in bone resorption and vascular calcification. OPG levels has been related with insulin resistance in adult obese subjects.Objective a...