Two Cases with 17-alpha Hydroxylase Deficiency Misdiagnosed as Primary Aldosteronism

Abstract

Aim: Lack of CYP17A1 prevents sex steroid biosynthesis, yielding a female phenotype in 46, XY males and sexual infantilism in both sexes; overproduction of 11-deoxycorticosterone (DOC) in the zona fasciculata typically causes mineralocorticoid hypertension. In this study, we report two cases of severe hypokalemia, hyperaldosteronism, and sexual infantilism. Case Presentation: Case 1 admitted severe hypertension and hypokalemia with female external genitalia with 46, XY. The patient also had right adrenal masses of 35*30 mm diameters. Case 2 was presented with delayed pubertal development with 46, XX genotype. In addition, she had severe hypertension and hypokalemia with nodular surrenal hyperplasia in her abdomen imaging. Methods: Further hormonal and biochemical results were followed as elevated adrenocorticotropic hormone (ACTH) levels, low serum cortisol, 17 hydroxy progesterone (17 OHP) and dehydroepiandrosterone sulphate (DHESO4) and estradiol (E2 ) levels in both cases. Results: Genetical analyses confirmed 17 OHP deficiency in both cases. Conclusion: The condition of patients with 17 alpha-hydroxylase deficiency may substantially resemble primary hyperaldosteronism and must be considered in patients as primary hypogonadism (and) associated with mineralocorticoid hypertension.