17α-hydroxylase/17,20-lyase Deficiency Diagnosed at 45 Years of Age with Hyperaldosteronism

• Published in: Internal Medicine Vol. 63; no. 22; pp. 3071 - 3076
• Main Authors: Ikeya, Akira, Yamashita, Miho, Kakizawa, Keisuke, Kawauchi, Yuto, Matsushita, Akio, Fujisawa, Yasuko, Ogata, Tsutomu, Sasaki, Shigekazu
• Format: Journal Article
• Language: English
• Published: Japan The Japanese Society of Internal Medicine 15.11.2024; Japan Science and Technology Agency
• Subjects: 17α-hydroxylase/17,20-lyase deficiency; Adrenal Hyperplasia, Congenital - complications; Adrenal Hyperplasia, Congenital - diagnosis; Adrenal Hyperplasia, Congenital - genetics; Case Report; Children; congenital adrenal hyperplasia (CAH); CYP17; Female; Humans; Hydroxylase; hyperaldosteronism; Hyperaldosteronism - complications; Hyperaldosteronism - diagnosis; Hyperplasia; Hypertension; hyporenin; Menstruation; Middle Aged; Steroid 17-alpha-Hydroxylase - genetics; hyperaldosteronism; CYP17; congenital adrenal hyperplasia (CAH); 17α-hydroxylase/17,20-lyase deficiency; hyporenin; hypertension
• ISSN: 0918-2918; 1349-7235; 1349-7235
• DOI: 10.2169/internalmedicine.3084-23

17α-hydroxylase deficiency is a type of congenital adrenocortical hyperplasia that is typically diagnosed in childhood or adolescence. It manifests as hypertension with gonadal dysfunction as the primary symptom. We herein report 17α-hydroxylase/17,20-lyase deficiency (17OHD) diagnosed at the age of 45 years. The patient presented with hypertension, irregular menstruation, and hyperaldosteronism. The clinical manifestations of 17OHD vary based on the specific variant pattern of CYP17A1. In this case, the variant was c.157_159 TCC del p. Phe53del, which has been frequently reported in Japan. The enzymatic deficiency due to this variant is partial, leading to a delay in making a correct diagnosis.