Endocrine Abstracts

Introduction: Congenital hypothyroidism is caused by abnormal development or function of the thyroid gland. Early detection through heel prick screening and treatment prevents irreversible adverse neuro developmental outcome. The national screening program for congenital hypothyroidism in the UK has extremely low false positive rates. We describe 4 siblings with falsely raised TSH related to maternally transmitted macroTSH.Case s...

Introduction: Congenital hypothyroidism (CH) is defined as thyroid hormone deficiency which is present at birth. Thyroid hormones are crucial for early neurodevelopment. Untreated severe CH results in major neurological deficits. Therefore, if treatment is initiated early, these deficiencies can be prevented. Newborn screening for CH was first initiated in Sri Lanka in September 2010.Methods: A retrospective cohort study...

Background: Thyroid hormones are essential for the adequate growth and development of the kidney and also target changes in glomerular and tubular functions and electrolyte and water homeostasis. Hyperthyroidism leads to an increase in glomerular filtration rate (GFR) and renal blood flow with converse effects seen in hypothyroidism. In turn, the kidneys are responsible for the metabolism and elimination of thyroid hormones and thus renal disease can lead to s...

Introduction: The presence of heterophilic antibodies resulting in assay interference could lead to falsely high or low values in biochemical investigations. We present a case of a 5-year-old girl who had persistently high level of TSH despite Levothyroxine treatment.History: A five-year girl was found to have an elevated plasma TSH level (24.29 mU/L) with normal Free T4 (both measured using Abbott Alinity immunoassay) w...

Introduction: Congenital nephrotic syndrome (CNS) is defined as heavy proteinuria starting within three months after birth. It affects approximately 1 to 3 per 100 000 children worldwide. The classical form is the Finnish type, caused by mutations in the nephrin gene. Approximately 50 percent of all nephrotic patients have low total thyroxine (T4) concentrations resulting from urinary losses of T4-binding globulin (TBG) and other thyroid hormone-binding protei...