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Case Reports
A Case of 17α-hydroxylase/17,20-lyase Deficiency Diagnosed at 45 Years of Age with Hyperaldosteronism.
- Akira Ikeya, Miho Yamashita, Keisuke Kakizawa, Yuto Kawauchi, Akio Matsushita, Yasuko Fujisawa, Tsutomu Ogata, and Shigekazu Sasaki.
- 2nd Department of Internal Medicine, Hamamatsu University School of Medicine, Japan.
- Intern. Med. 2024 Nov 15; 63 (22): 307130763071-3076.
Abstract17α-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.
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