A patient with primary amenorrhoea and hypertension: 17 á hydroxylase deficiency – a rare cause of congenital adrenal hyperplasia

A 26 year old girl, who is a product of a consanguineous marriage, presented with hypertension and hypokalaemia. She had a history of primary amenorrhoea with absent secondary sexual characteristics. Laboratory investigations revealed low levels of serum cortisol and low 17hydroxyprogesterone levels with high ACTH levels. Furthermore her adrenal androgens and oestradiol were low with elevated gonadotrophins. Chromosomal analysis revealed a male karyotype of 46, XY. All these clinical and laboratory data were consistent with the diagnosis of congenital adrenal hyperplasia (CAH) due to 17 alpha hydroxylase deficiency in a genotypic male. She was started on steroid replacement therapy while monitoring blood pressure, serum potassium levels and ACTH levels.

Sri Lanka Journal of Diabetes, Endocrinology and Metabolism 2015; 5: 38-41