ESPE Abstracts

Introduction: 46, XY DSD leave lifelong implications on parents and patients. Documented scientific literature on children with 46, XY DSD is scares in Sri Lanka. This study assesses the psychosocial wellbeing of parents and the quality of life in children with 46 XY DSD.Objective: To assess the psychosocial wellbeing of parents and the quality of life in children with 46, XY DSD attending the endocrine clinics at Lady R...

Introduction: Intensive insulin therapy with multiple daily injections (MDI) gives better glycaemic control than conventional biphasic insulin regimen in children with type 1 Diabetes mellitus. Though MDI regimen is widely practiced in other countries, this is not so in Sri Lanka.Objective: Effect on glycaemic control and BMI of children with TIDM after the change of insulin regimen to MDI from twice daily insulin regime. Methodology</st...

Background: The increased risk for congenital heart malformations in Turner syndrome (TS) is well established with a prevalence ranging from 17 to 45%. The associated cardiac anomalies and normal parameters for aortic dimensions in TS have not been previously reported from Sri Lanka.Objective and hypotheses: To document parameters for aortic dimensions and describe structural and functional cardiac abnormalities in a cohort of children with TS.<p cla...

Conclusions: Iodine nutrition status in children in both groups was optimal, based on urinary iodine concentration. Furthermore, there was no significant association between iodine intake and autoimmune thyroiditis....

Background: Evaluation of the external genitalia is very important in the routine neonatal examination, since abnormalities of the genitalia give clues to underlying endocrine disorders or serious structural malformations. This is the first report regarding the stretched penile length (SPL) of newborns from Sri Lanka.Objective and hypotheses: The objectives of the study were to document the SPL of healthy term neonates born following an uncomplicated del...

Background: Neonatal diabetes (NDM) is a rare form of monogenic diabetes which usually presents before 6 months of age. Both transient and permanent NDM have been described.Objective: To report the molecular genetics and clinical characteristics of patients with NDM from a single centre in Sri Lanka.Method: Retrospective analysis of clinical and molecular genetic data from patients referred to Lady Ridgeway Hospital Endocrinology u...

Background: Genetic defects in NKX2.1 (chromosome 14q13) are associated with hypothyroidism, choreo-athetotic movements and respiratory distress, known as the “Brain-Lung-Thyroid syndrome”.Objective and hypotheses: To identify the genetic basis of a disorder compatible with the “NKX2.1 syndrome” and extra features outside the typical triad.Patients and methods: 10-year old girl with congenital ...

Background: Thyroid hormone resistance (THR) is a rare genetic disorder that may be caused by thyroid hormone (TH) cell transporter defects or metabolism defects, but most cases are caused by an inherited mutation in the TH receptor beta (THRB) gene. The reduced responsiveness of target tissues to TH is characterized by elevated TH and a normal or elevated thyroid-stimulating hormone (TSH) level. Differentiating between THR and TSH-producing pituitary...

Background: Cornelia de Lange (CdLS) syndrome (OMIM #122470) is a complex disease, characterized by distinctive facial features, failure to thrive, microcephaly, intrauterine growth retardation and anomalies in multiple organ systems. The complexity and severity of the endocrine commitment is variable. NIPBL, SMC1A, SMC3, RAD21 and HDAC8 genes, all involved in the cohesin pathway, have been identified to cause CdLS. There are few published studies on the endoc...

Capillary hyperglycemia in critically ill infants is a situation with numerous interfering factors, from acute illnesses to concomitant use of medications and may or may not be a manifestation of endocrinological urgency. Clinical case: Female patient, 2 months old, with failure to thrive, hepatomegaly without cholestasis, polyuria and compensated metabolic acidosis. On admission, capillary blood glucose levels above 200 mg/dL were measured even without concomitant use of cort...