Endocrine Abstracts

Thyroid hormone is absolutely necessary for early brain development. Incidence of thyroid disorders in infancy is 1:4,000. Thyroid hormones can be deficient through hormone synthesis and action or very rarely through defective transport. Some new and exciting transporters for tri-iodothyronine (T3) have recently come to light. MCT 8 gene encodes the protein that transports T3 into neurons. Its mutation result in inability of T3 to enter a devel...

Isolated hyperreninemic hypoaldosteronism presents in infancy with failure to thrive, hyponatremia, hyperkalemia, markedly elevated plasma renin activity, and low or inappropriately normal aldosterone. It is usually caused by mutations in the CYP11B2 gene encoding aldosterone synthase. Patients have normal cortisol levels and no features of congenital adrenal hyperplasia. We report a patient who presented with hyperreninemic hypoaldosteronism in early infancy.<p class="abs...