Endocrine Abstracts

Introduction: The 17 α-hydroxylase deficiency is a rare form of congenital adrenal hyperplasia. It is characterized by amenorrhea, impuberism, hypertension and hypokalemia. We report a case of 17α-hydroxylase deficiency in a patient with a 46,XX karyotype, which contrasted with the absence of Mullerian duct.Case report: An18-year-old female was referred for primary amenorrhea. Her parents were cousins. Her sister, who had the same features, die...