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.

• Authors: Gamze Akkus
• Journal: Endocrine, metabolic & immune disorders drug targets (Endocr Metab Immune Disord Drug Targets) Vol. 23 Issue 11 Pg. 1449-1454 ( 2023) ISSN: 2212-3873 [Electronic] United Arab Emirates
• PMID: 37032508 (Publication Type: Case Reports)
• Copyright: Copyright© Bentham Science Publishers; For any queries, please email at [email protected].

Chemical References

• Mineralocorticoids

Topics

• Humans
• Male
• Female
• Hypokalemia (complications)
• Mineralocorticoids
• Sexual Infantilism
• Hyperaldosteronism (diagnosis, complications)
• Hypertension (diagnosis)
• Diagnostic Errors (adverse effects)