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

被引：0

作者：

Ikeya, Akira ^{[1
,2
]}

Yamashita, Miho ^{[3
]}

Kakizawa, Keisuke ^{[1
]}

Kawauchi, Yuto ^{[1
]}

Matsushita, Akio ^{[1
]}

Fujisawa, Yasuko ^{[4
]}

Ogata, Tsutomu ^{[4
,5
]}

Sasaki, Shigekazu ^{[1
,6
]}

机构：

[1] Hamamatsu Univ Sch Med, Dept Internal Med 2, Hamamatsu, Japan

[2] Futagawa Hosp, Dept Internal Med, Toyohashi, Aichi, Japan

[3] Hamamatsu Univ Sch Med, Int Ctr, Hamamatsu, Shizuoka 4313192, Japan

[4] Hamamatsu Univ Sch Med, Dept Pediat, Hamamatsu, Japan

[5] Hamamatsu Univ Sch Med, Dept Biochem, Hamamatsu, Japan

[6] Nagoya City Univ, Dept Diabet & Endocrinol, Mirai Kousei Hosp, Nagoya, Japan

来源：

INTERNAL MEDICINE | 2024年 / 63卷 / 22期

关键词：

17; alpha-hydroxylase/17; 20-lyase deficiency; congenital adrenal hyperplasia (CAH); CYP17; hypertension; hyporenin; hyperaldosteronism; 17-HYDROXYLASE; MUTATIONS;

D O I：

10.2169/internalmedicine.3084-23

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

17 alpha-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 17 alpha-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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页码：3071 / 3076

页数：6

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