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: Kawauchi, Yuto, Ikeya, Akira, Sasaki, Shigekazu, Ogata, Tsutomu, Yamashita, Miho, Matsushita, Akio, Fujisawa, Yasuko, Kakizawa, Keisuke
• 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

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...