A novel homozygous CYP17A1 mutation causes partial 17 α-hydroxylase/17,20-lyase deficiency in 46,XX: a case report and literature review
Aim: 17 α-hydroxylase/17,20-lyase deficiency (17-OHD) is an extremely rare autosomal recessive disorder that typically causes hypertension, hypokalaemia, primary amenorrhoea, and the absence of secondary sex characteristics in 46,XX individuals. Partial 17-OHD is even rarer than complete 17-OHD and...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Taylor & Francis Group
2023-12-01
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| Series: | Blood Pressure |
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| Online Access: | http://dx.doi.org/10.1080/08037051.2023.2195008 |
| _version_ | 1797676815146287104 |
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| author | Heye Chen Yingting Chen Hongxian Mao Huaying Huang Xueyong Lou |
| author_facet | Heye Chen Yingting Chen Hongxian Mao Huaying Huang Xueyong Lou |
| author_sort | Heye Chen |
| collection | DOAJ |
| description | Aim: 17 α-hydroxylase/17,20-lyase deficiency (17-OHD) is an extremely rare autosomal recessive disorder that typically causes hypertension, hypokalaemia, primary amenorrhoea, and the absence of secondary sex characteristics in 46,XX individuals. Partial 17-OHD is even rarer than complete 17-OHD and is prone to missed diagnosis due to its subtler symptoms. The aim of this study was to help early detection and diagnosis of partial 17-OHD. Methods: We present a case of a 41-year-old female (46,XX) patient with partial 17-OHD caused by a novel missense CYP17A1 mutation, c.391 A > C (p.T131P). This patient experienced hypertension, hypokalaemia and adrenal hyperplasia, but did not present with primary amenorrhoea or absence of secondary sex characteristics. Initially, she was misdiagnosed and underwent right and left adrenalectomy, but the procedures were ineffective. Afterward, she received a one-month treatment of 0.5 mg dexamethasone, which greatly relieved her symptoms. Additionally, we reviewed reports of thirteen other patients with partial 17-OHD in 46,XX individuals from the literature, totalling fourteen probands. Results: We found that primary amenorrhoea, hypertension, hypokalaemia, and ovarian cysts accounted for 15.4%, 42.9%, 38.5%, and 72.7% of these patients, respectively. In contrast, elevated serum progesterone was present in all patients. Conclusion: Based on our literature review, the absence of primary amenorrhoea, hypertension or hypokalaemia cannot rule out suspicion for 17-OHD in 46,XX individuals. However, an elevation in serum progesterone levels is a highly sensitive indicator for diagnosing 17-OHD. |
| first_indexed | 2024-03-11T22:35:48Z |
| format | Article |
| id | doaj.art-556f749a959141e8b12c3811aa999b00 |
| institution | Directory Open Access Journal |
| issn | 0803-7051 1651-1999 |
| language | English |
| last_indexed | 2024-03-11T22:35:48Z |
| publishDate | 2023-12-01 |
| publisher | Taylor & Francis Group |
| record_format | Article |
| series | Blood Pressure |
| spelling | doaj.art-556f749a959141e8b12c3811aa999b002023-09-22T13:57:06ZengTaylor & Francis GroupBlood Pressure0803-70511651-19992023-12-0132110.1080/08037051.2023.21950082195008A novel homozygous CYP17A1 mutation causes partial 17 α-hydroxylase/17,20-lyase deficiency in 46,XX: a case report and literature reviewHeye Chen0Yingting Chen1Hongxian Mao2Huaying Huang3Xueyong Lou4Department of Endocrinology and Metabolism, Affiliated Jinhua Hospital, Zhejiang University School of MedicineDepartment of Endocrinology and Metabolism, Affiliated Jinhua Hospital, Zhejiang University School of MedicineDepartment of Endocrinology and Metabolism, Affiliated Jinhua Hospital, Zhejiang University School of MedicineDepartment of Endocrinology and Metabolism, Affiliated Jinhua Hospital, Zhejiang University School of MedicineDepartment of Endocrinology and Metabolism, Affiliated Jinhua Hospital, Zhejiang University School of MedicineAim: 17 α-hydroxylase/17,20-lyase deficiency (17-OHD) is an extremely rare autosomal recessive disorder that typically causes hypertension, hypokalaemia, primary amenorrhoea, and the absence of secondary sex characteristics in 46,XX individuals. Partial 17-OHD is even rarer than complete 17-OHD and is prone to missed diagnosis due to its subtler symptoms. The aim of this study was to help early detection and diagnosis of partial 17-OHD. Methods: We present a case of a 41-year-old female (46,XX) patient with partial 17-OHD caused by a novel missense CYP17A1 mutation, c.391 A > C (p.T131P). This patient experienced hypertension, hypokalaemia and adrenal hyperplasia, but did not present with primary amenorrhoea or absence of secondary sex characteristics. Initially, she was misdiagnosed and underwent right and left adrenalectomy, but the procedures were ineffective. Afterward, she received a one-month treatment of 0.5 mg dexamethasone, which greatly relieved her symptoms. Additionally, we reviewed reports of thirteen other patients with partial 17-OHD in 46,XX individuals from the literature, totalling fourteen probands. Results: We found that primary amenorrhoea, hypertension, hypokalaemia, and ovarian cysts accounted for 15.4%, 42.9%, 38.5%, and 72.7% of these patients, respectively. In contrast, elevated serum progesterone was present in all patients. Conclusion: Based on our literature review, the absence of primary amenorrhoea, hypertension or hypokalaemia cannot rule out suspicion for 17-OHD in 46,XX individuals. However, an elevation in serum progesterone levels is a highly sensitive indicator for diagnosing 17-OHD.http://dx.doi.org/10.1080/08037051.2023.2195008hypertensioncyp17a117 α-hydroxylase/17,20-lyase deficiencynovel mutationscongenital adrenal hyperplasia |
| spellingShingle | Heye Chen Yingting Chen Hongxian Mao Huaying Huang Xueyong Lou A novel homozygous CYP17A1 mutation causes partial 17 α-hydroxylase/17,20-lyase deficiency in 46,XX: a case report and literature review Blood Pressure hypertension cyp17a1 17 α-hydroxylase/17,20-lyase deficiency novel mutations congenital adrenal hyperplasia |
| title | A novel homozygous CYP17A1 mutation causes partial 17 α-hydroxylase/17,20-lyase deficiency in 46,XX: a case report and literature review |
| title_full | A novel homozygous CYP17A1 mutation causes partial 17 α-hydroxylase/17,20-lyase deficiency in 46,XX: a case report and literature review |
| title_fullStr | A novel homozygous CYP17A1 mutation causes partial 17 α-hydroxylase/17,20-lyase deficiency in 46,XX: a case report and literature review |
| title_full_unstemmed | A novel homozygous CYP17A1 mutation causes partial 17 α-hydroxylase/17,20-lyase deficiency in 46,XX: a case report and literature review |
| title_short | A novel homozygous CYP17A1 mutation causes partial 17 α-hydroxylase/17,20-lyase deficiency in 46,XX: a case report and literature review |
| title_sort | novel homozygous cyp17a1 mutation causes partial 17 α hydroxylase 17 20 lyase deficiency in 46 xx a case report and literature review |
| topic | hypertension cyp17a1 17 α-hydroxylase/17,20-lyase deficiency novel mutations congenital adrenal hyperplasia |
| url | http://dx.doi.org/10.1080/08037051.2023.2195008 |
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