Endocrine Abstracts

Congenital Adrenal Hyperplasia is a group of autosomal recessive disorders characterised by enzyme defects in the steroidogenic pathways involved in the biosynthesis of cortisol, aldosterone and androgens. 21-hydroxylase deficiency accounts for more than 90% of cases.Case history: 41-yr-old female was referred to Endocrinology with a serum testosterone of 14.3 nmol/l (0.20–2.86). She was a full term baby born to non...

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...

The Fibroblast Growth Factor 23 (FGF23) gene provides instructions for making a protein called FGF23. This protein is necessary in regulating the phosphate levels within the body. We present a case of an adult Caucasian man with persistent hypophosphatemia due to mutation in ENPP1.Case History: A 34 years old male presented with intermittent muscle pain, cramps and headaches. He also noticed episodic breathlessness and irritability. He had no hi...