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; Shigekazu Sasaki

doi:10.2169/internalmedicine.3084-23

CASE REPORTS

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, Shigekazu Sasaki

Author information

Akira Ikeya
2nd Department of Internal Medicine, Hamamatsu University School of Medicine, Japan
Department of Internal Medicine, Futagawa Hospital, Japan
Miho Yamashita
International Center, Hamamatsu University School of Medicine, Japan
Keisuke Kakizawa
2nd Department of Internal Medicine, Hamamatsu University School of Medicine, Japan
Yuto Kawauchi
2nd Department of Internal Medicine, Hamamatsu University School of Medicine, Japan
Akio Matsushita
2nd Department of Internal Medicine, Hamamatsu University School of Medicine, Japan
Yasuko Fujisawa
Department of Pediatrics, Hamamatsu University School of Medicine, Japan
Tsutomu Ogata
Department of Pediatrics, Hamamatsu University School of Medicine, Japan
Department of Biochemistry, Hamamatsu University School of Medicine, Japan
Shigekazu Sasaki
2nd Department of Internal Medicine, Hamamatsu University School of Medicine, Japan
Department of Diabetes and Endocrinology, Nagoya City University Mirai Kousei Hospital, Japan

Keywords: 17α-hydroxylase/17,20-lyase deficiency, congenital adrenal hyperplasia (CAH), CYP17, hypertension, hyporenin, hyperaldosteronism

JOURNAL OPEN ACCESS

2024 Volume 63 Issue 22 Pages 3071-3076

DOI https://doi.org/10.2169/internalmedicine.3084-23

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Abstract

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.

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