Three misdiagnoses before a final diagnosis of 17α-hydroxylase/17,20-lyase deficiency: A case report

17α-hydroxylase/17,20 lyase deficiency (17OHD) is a rare autosomal recessive disorder that accounts for only 1% of all congenital adrenal hyperplasia. It has a high rate of misdiagnosis and mistreatment. However, the cases of repeated misdiagnosis and 3 times of mistreatment are extremely rare, which has important significance in medical education.

In this report, a 54-year-old female patient was transferred to the renal department due to proteinuria on physical examination. Enhanced adrenal computed tomography showed right adrenal hyperplasia with multiple nodules, likely adenoma. Blood tests showed low levels of renin, cortisol, estradiol, and androgens, and elevated levels of adrenocorticotropin. Uterine ultrasound indicated a rudimentary uterus. Genetic testing identified heterozygous variants of C.118A>T and C.316T>C in the CYP17A1 gene.

After revising the diagnosis of primary amenorrhea, adrenal adenoma, and chronic nephritis, 17OHD was finally confirmed.

The patient received maintenance treatment with hydrocortisone (10 mg at 6 am and 10 mg at 2 pm).

Postreatment, blood pressure, potassium levels, and urine protein normalized, with stable cortisol levels.

This case illustrates the importance of early and correct diagnosis of 17OHD through the patient's tortuous medical experience, and all treatments should be very cautious before the accurate diagnosis of 17OHD. The possibility of 17OHD should be considered in patients with hypertension, hypokalemia, and insufficient puberty. When adult 17OHD patients cannot tolerate long-acting glucocorticoids, they can be replaced with hydrocortisone therapy.