A 56-Year-Old Male Patient With 21-Hydroxylase Deficiency Presenting With Fatigue: A Case Report

Congenital adrenal hyperplasia (CAH) results from 21-hydroxylase deficiency (21-OHD), which is the most frequent form of CAH and often presents with atypical symptoms. Patients with non-classic 21-OHD (NC-21-OHD) are particularly susceptible to diagnostic challenges, including misdiagnosis and underdiagnosis. This study reports a case of NC-21-OHD and underscores the associated challenges in its diagnosis, treatment, and clinical management.

This study reports a 56-year-old male patient who presented with fatigue lasting over a year. Initial ultrasound revealed a hypoechoic mass above the left kidney, and further evaluation, including renal tumor evaluation and computed tomography angiography, indicated thickening of the adrenal glands and multiple lesions. Endocrinological assessment revealed reduced luteinizing and follicle-stimulating hormone levels, along with elevated dehydroepiandrosterone sulfate and abnormal corticotropin, ultimately diagnosing the patient with primary adrenal insufficiency. Furthermore, genetic screening identified heterozygous mutations in the CYP21A2 (cytochrome P450, family 21, sub-family A, polypeptide 2) gene, confirming CAH due to NC-21-OHD. The patient was treated with hydrocortisone at a dosage of 20 mg twice a day.

Hydrocortisone therapy resulted in a significant alleviation of fatigue symptoms and a substantial reduction in 17α-hydroxyprogesterone (17-OHP) levels, thereby enhancing the patient's confidence in disease management.

This case emphasizes the significance of early recognition of nonspecific symptoms, prompt diagnosis, and timely treatment in managing CAH to enhance the overall quality of life and reproductive health in affected individuals.