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.

引用

收藏

页码：3071 / 3076

页数：6

相关论文

共 50 条

[31] CYP17A1 gene mutations and hypertension variations found in 46, XY females with combined 17α-hydroxylase/17, 20-lyase deficiency [J].

Wang, Yue-Ping ;

Zhao, Yun-Jing ;

Zhou, Guang-Yu ;

He, Bing .

GYNECOLOGICAL ENDOCRINOLOGY, 2014, 30 (06) :456-460

[32] A novel CYP17A1 deletion causes a functional knockout of the steroid enzyme 17-hydroxylase and 17,20-lyase in a Turkish family and illustrates the precise role of the CYP17A1 gene [J].

Camats, Nuria ;

Ustyol, Ala ;

Atabek, Mehmet Emre ;

Dick, Bernhard ;

Flueck, Christa E. .

CLINICAL CASE REPORTS, 2015, 3 (10) :793-797

[33] Combined 17 Alpha-Hydroxylase/17,20-Lyase Deficiency due to a Homozygous 25 BP Duplication (NT 4157-4181) at Exon 5 in the CYP17 Resulting in a Premature Stop Codon Predicted by Molecular Modeling [J].

Martin, Regina M. ;

Oliveira, Paulo S. L. ;

Costa, Elaine M. F. ;

Arnhold, Ivo J. P. ;

Mendonca, Berenice B. .

ARQUIVOS BRASILEIROS DE ENDOCRINOLOGIA E METABOLOGIA, 2008, 52 (08) :1317-1320

[34] Congenital Adrenal Hyperplasia Owing to 17α-Hydroxylase/17,20 Lyase and P450 Oxidoreductase Deficiencies [J].

Flueck, Christa E. .

HORMONAL AND GENETIC BASIS OF SEXUAL DIFFERENTIATION DISORDERS AND HOT TOPICS IN ENDOCRINOLOGY, 2011, 707 :3-5

[35] Identification of a homozygous c.1039C>T (p.R347C) variant in CYP17A1 in a 67-year-old female patient with partial 17α-hydroxylase/17,20-lyase deficiency [J].

Yamagata, Satoshi ;

Kageyama, Kazunori ;

Usui, Takeshi ;

Saito, Kohei ;

Takayasu, Shinobu ;

Usutani, Mari ;

Terui, Ken ;

Daimon, Makoto .

ENDOCRINE JOURNAL, 2022, 69 (02) :115-120

[36] Clinical and Genetic Characteristics of 17 α-Hydroxylase/17, 20-Lyase Deficiency: c.985_987delTACinsAA Mutation of CYP17A1 Prevalent in the Chinese Han Population [J].

Xia, Junke ;

Liu, Furong ;

Wu, Jing ;

Xia, Yanjie ;

Zhao, Zhenhua ;

Zhao, Yongjiang ;

Ren, Huayan ;

Kong, Xiangdong .

ENDOCRINE PRACTICE, 2021, 27 (02) :137-145

[37] Revealing a New Homozygous Variant in CYP17A1 c.908G>A (p. Gly303Asp) by Genotyping a Chinese Patient with 46, XY 17a-Hydroxylase/17,20-Lyase Deficiency and Adrenal Space-Occupying Lesion [J].

Wang, Miao ;

Hu, Xuejian ;

Xu, Xiangyu ;

Chen, Hui ;

Xue, Jisu .

DISCOVERY MEDICINE, 2024, 36 (184) :1012-1019

[38] A Patient with Partial 17α-Hydroxylase Deficiency Initially Diagnosed with Asherman Syndrome and Pheochromocytoma [J].

Yu, Hongxiao ;

Liu, Xiping ;

Nie, Zhihua ;

Xia, Yanhua .

INTERNATIONAL HEART JOURNAL, 2024, 65 (01) :159-164

[39] Proteomics, modeling, and fluorescence assays delineate cytochrome b5 residues involved in binding and stimulation of cytochrome P450 17A1 17,20-lyase [J].

Tateishi, Yasuhiro ;

Webb, Stephany N. ;

Li, Bian ;

Liu, Lu ;

Rose, Kristie Lindsey ;

Leser, Micheal ;

Patel, Purvi ;

Guengerich, F. Peter .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2024, 300 (03)

[40] Case report: Management challenges of late diagnosed 17-alpha hydroxylase deficiency [J].

Ben Salah, Dhoha ;

Trimeche, Oumeyma ;

Elleuch, Mouna ;

El abed, Wafa ;

Salah, Ameni ;

Abdelhadi, Fatma ;

Kammoun, Hassen ;

Feki, Wiem ;

Mnif, Zeineb ;

Chaabouni, Khansa ;

Ayedi, Fatma ;

Mnif, Fatma ;

Rekik, Nabila ;

Mnif, Mouna ;

Charfi, Nadia ;

Hadj kacem, Faten ;

Abid, Mohamed .

CLINICAL CASE REPORTS, 2023, 11 (02)

← 1 2 3 4 5 →