ESPE Abstracts

Introduction: Type 1 diabetes mellitus (T1DM) is commonly associated with other organ – specific autoimmune disorders. Autoimmune thyroid disease (AITD) is the most common comorbid autoimmune condition in patients with T1DM. The occurrence of both T1DM and AITD is defined as Autoimmune Polyglandular Syndrome type 3 variant (APS3v). We sought to clarify thyroid autoimmunity in a cohort of Malaysian patients with T1DM.Methods<...

Background: Hypophysitis is a rare inflammatory condition of the pituitary that can mimic a neoplastic lesion. Histopathology subtypes include lymphocytic, granulomatous, xanthomatous, plasmacytic or a mixed picture. Among these, xanthomatous hypophysitis (XH) is the least common with an unknown aetiology. Unlike lymphocytic hypophysitis, which is believed to be autoimmune in origin, XH is rarely reported to be associated with other autoimmune diseases and res...

Introduction: Osteogenesis imperfecta (OI), is a genetically heterogeneous connective tissue disorder associated with skeletal fragility, deformity, and growth deficiency. Intravenous bisphosphonate therapy is the mainstay of medical treatment of this condition. Given the paucity of data from Asia we sought to evaluate the genetic epidemiology and the response to pamidronate therapy in a cohort of Malaysian patients.Method: Genetic analysis was performed...

Background and hypotheses: Congenital hypothyroidism due to thyroid dysgenesis (CHTD) is a disorder with a prevalence of one in 4,000 live births, the cause of which remains unknown. The most common diagnostic category is thyroid ectopy, which occurs in up to 80% of CHTD cases. CHTD is predominantly not inherited and has a high discordance rate (>92%) between monozygotic (MZ) twins. The sporadic nature of CHTD might be explained by somatic events such as autosomal monoalle...

Anthropometric somatotype components show significant resemblance in monozygotic (MZ) and dizygotic twins (DZ) twins within each sex with a greater resemblance within MZ twin pairs than within DZ twin pairs. In many studies a significant positive correlation was found between the parental height and the height of girls with TS.This girl with Turner syndrome {46, X, i(Xq) presented at the age of 7.5 years for evaluation of her short stature. Her clinical ...

Context: Congenital hypothyroidism from thyroid dysgenesis (CHTD) is mainly a sporadic and non-syndromic condition occurring in 1:4,000 live births. In contrast to rare cases of syndromic monogenic CHTD, non-syndromic (NS) CHTD shows low familial recurrence risk (~2%) and low concordance rate between MZ twins, suggesting a two-hit scenario combining post-zygotic events with either a de novo monogenic mutation or incomplete penetrance of polyg...

Congenital hypothyroidism from thyroid dysgenesis (CHTD) is mainly a sporadic and non-syndromic condition occurring in 1:4,500 live births. In contrast to rare cases of syndromic monogenic CHTD, non-syndromic (NS) CHTD shows low familial recurrence risk (~2%) and low concordance rate between MZ twins, suggesting a two-hit scenario combining post-zygotic events with either a de novo monogenic mutation or incomplete penetrance of polygenic inherited variants,. As this l...

Background: T1D concordance in MZ twins being ~40%, non-heritable factors play a major causal role in this autoimmune disease. T1D has recently increased in young European children. Collecting prospective environmental data in a cohort of millions children-years starting soon after birth seems unpracticable. Retrospective case-control studies are an alternative, provided biased controls and recall bias can both be avoided.Objectives: To develop a ‘v...

Background: Few data exist for young children regarding the proper site for insulin catheter insertion for pump (CSII) users.Objective and hypotheses: To evaluate the proper site for catheter insertion in very young children (<8 year old) with T1D and CSII.Method: The study comprised 10 children [7 females, median age 4.43 years (range 2.3–7.18), median disease duration 1.65 years] with T1D who were on CSII. Ultrasound mea...

Background: T1D concordance in MZ twins being ~40%, non-heritable factors play a major causal role in this autoimmune disease. T1D has recently increased in young European children. Collecting prospective environmental data in a cohort of millions children-years starting soon after birth seems unpracticable. Retrospective case–control studies are an alternative, provided biased controls and recall bias can both be avoided.Objectives: To develop a &#...