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Clinical characteristics of 5 patients with 17α-hydroxylase deficiency and LC-MS/MS method for the measurement of steroid hormones / 中华内分泌代谢杂志
Chinese Journal of Endocrinology and Metabolism ; (12): 132-138, 2022.
Article in Chinese | WPRIM | ID: wpr-933379
ABSTRACT

Objective:

To analyze clinical characteristics of 17α-hydroxylase deficiency, and to facilitate the understanding and management of the disease.

Methods:

A retrospective analysis of the clinical characteristics and biochemical results of 5 cases with 17α-hydroxylase deficiency diagnosed and treated from 2018 to 2020.

Results:

All 5 patients were female as social gender, and reached adulthood upon first clinic visit to our department and got diagnosed. All 5 cases had hypertension, hypokalemia, bilateral adrenal hyperplasia or adenoma, osteoporosis, and typical hormone changes related to steroid synthesis.

Conclusion:

Steroid hormone tests with liquid chromatography tandem mass spectrometry(LC-MS/MS) enable early diagnosis of 17α-hydroxylase deficiency, assessment of the type and degree of enzyme deficiency, and choice of treatment. For such patients, it is necessary to give appropriate anti-osteoporosis therapy.

Full text: Available Index: WPRIM (Western Pacific) Type of study: Screening study Language: Chinese Journal: Chinese Journal of Endocrinology and Metabolism Year: 2022 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Type of study: Screening study Language: Chinese Journal: Chinese Journal of Endocrinology and Metabolism Year: 2022 Type: Article