Be alert to hypertension caused by 17α-hydroxylase deficiency: two case reports in young patients

This article reports on two unrelated young female patients (gender assigned female at birth) who initially presented with hypertension. Patient 1 was admitted to the hospital with an acute cerebral infarction due to poorly controlled hypertension, while Patient 2 was a first-time visitor presenting with hypertension as the initial complaint. Physical examination on admission revealed absent breast development, feminized and immature external genitalia, and no history of menarche. Laboratory investigations showed markedly elevated adrenocorticotropic hormone (ACTH) levels, significantly decreased cortisol levels and a disrupted circadian rhythm. For sex hormones, progesterone was markedly elevated, follicle-stimulating hormone (FSH) and luteinizing hormone (LH) were mildly increased, while estrogen and testosterone levels were low. Combined with karyotype analysis and gene sequencing, Patient 1 was confirmed to have a karyotype of 46,XX, and Patient 2 had a karyotype of 46,XY. In addition, pathogenic allelic variants in the CYP17A1 gene (c.985_987delinsAA) differed between the two patients: Patient 1 harbored a heterozygous mutation, whereas Patient 2 had a homozygous mutation. Both patients were ultimately diagnosed with 17α-hydroxylase deficiency (17-OHD). During the 6-month follow-up after initiation of dexamethasone replacement therapy, the patients' blood pressure and serum potassium levels were well controlled. This case suggests that although 17-OHD is a rare disorder, clinicians should be alert to the possibility of 17-OHD in patients presenting with disorders of sex development or primary hypertension. Early and definitive diagnosis followed by appropriate glucocorticoid replacement therapy can significantly improve the patient's quality of life.