hrp0098p3-273 | Late Breaking | ESPE2024

A rare cause of acute salt wasting crisis in infancy: Case report of Type 1 aldosterone synthase deficiency with CYP11B2 mutation

Yee Chan Ka , Ming Wong Lap

Background: Aldosterone is a steroid hormone synthesized in the zona glomerulosa of the adrenal cortex. It is important for homeostasis of plasma sodium and potassium levels. Isolated aldosterone synthase deficiency can result in acute salt-losing crisis, severe hyperkalemia, metabolic acidosis, and failure to thrive.Case presentation: An 18-day-old boy, born to consanguineous parents, presented to our hospital for failu...

hrp0098p3-198 | Pituitary, Neuroendocrinology and Puberty | ESPE2024

A baby grown up with central hypothyroidism

Chung Yau Ho , Yan Chan Suk , Yee Chan Ka

We report a 12-year-old boy who has grown up with central hypothyroidism diagnosed since newborn. The boy was born at 41 weeks of gestation with birth weight of 3520 gram. Newborn screening detected abnormal thyroid function – Cord blood TSH 0.86 mIU/L and free T4 6.76 pmol/L, day 6 TSH 0.63 mIU/L and free T4 9.65 pmol/L. History revealed no history of maternal thyroid disease nor family history of thyroid disease, no drugs or herbs intake during pregnancy, and no sympto...