Heliyon · 5 authors, 1 centre
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This case report describes a 39-year-old female with 46,XY karyotype and 17α-hydroxylase deficiency (17OHD) who was misdiagnosed for over 20 years. The patient presented with severe hypertension, hypokalemia, sexual infantilism, and a homozygous CYP17A1 mutation (c.1319G>A, p.Arg440His). Clinicians should consider 17OHD in patients with hypertension, hypokalemia, and delayed puberty to enable early diagnosis and prevent cardiovascular complications.
**Background:** 17α-hydroxylase deficiency (17OHD) is a rare autosomal recessive form of congenital adrenal hyperplasia (CAH) caused by mutations in the CYP17A1 gene encoding P450c17. This enzyme is essential for cortisol and sex steroid synthesis. Deficiency leads to impaired cortisol production, compensatory ACTH elevation, and overproduction of deoxycorticosterone (DOC), causing hypertension, hypokalemia, and suppressed renin and aldosterone. Sex steroid deficiency results in sexual infantilism and delayed puberty. The incidence of 17OHD is approximately 1 in 1,000,000, and it accounts for about 1% of CAH cases. Lack of awareness often leads to misdiagnosis and delayed treatment.
**Methods:** This is a case report of a 39-year-old female patient (social gender) admitted for evaluation of hypertension discovered over 20 years. She underwent comprehensive clinical evaluation including blood pressure measurement, laboratory tests (electrolytes, hormones, 24-hour urine catecholamines), imaging (carotid ultrasound, echocardiography, gynecological ultrasound, adrenal and renal artery CT angiography), peripheral blood karyotype analysis, and genetic testing for CYP17A1 mutations.
**Key Results:** The patient had a 46,XY karyotype and a homozygous missense mutation in CYP17A1: c.1319G>A (p.Arg440His). Blood pressure was elevated (upper extremity ~160/110 mmHg, lower extremity ~190/110 mmHg). Laboratory findings included: low renin (recumbent <0.5 uIU/ml, vertical <0.5 uIU/ml), low aldosterone (recumbent 2.02 ng/dl, vertical 2.61 ng/dl), low testosterone (<0.13 ng/ml), low estradiol (<10 pg/ml), elevated FSH (72.93 mIU/ml) and LH (16.08 mIU/ml), low cortisol (8 AM 0.50 ug/dl, 4 PM 0.34 ug/dl, 0 AM 0.06 ug/dl), elevated ACTH (8 AM 113.14 pg/ml, 4 PM 82.73 pg/ml, 0 AM 40.84 pg/ml), and hypokalemia (lowest 3.39 mmol/L). Imaging showed absent uterus, thickened left adrenal artery, and increased basal septal thickness (12 mm). The patient had Tanner stage I breast development, no axillary or pubic hair, and delayed bone age (epiphysis not closed at age 38). After treatment with hydrocortisone acetate 20 mg twice daily and nifedipine sustained release 30 mg once daily, blood pressure was controlled at approximately 145/95 mmHg.
**Clinical Implications:** This case highlights the importance of considering 17OHD in patients with hypertension, hypokalemia, and delayed puberty or primary amenorrhea. Early diagnosis through genetic testing and karyotype analysis can prevent long-term cardiovascular and cerebrovascular complications. Treatment includes lifelong glucocorticoid replacement to suppress ACTH and DOC, and antihypertensive agents if needed. Multidisciplinary collaboration is essential for management. The patient was misdiagnosed for over 20 years, underscoring the need for increased clinician awareness of rare causes of hypertension.