17α-HYDROXYLASE/17, 20-LYASE DEFICIENCY: CLINICAL AND MOLECULAR CHARACTERIZATION OF EIGHT CHINESE PATIENTS.

Abstract

OBJECTIVE:

17α-hydroxylase/17, 20-lyase deficiency (17OHD) is caused by mutations in the cytochrome P450 17A1 (CYP17A1) gene. To better understand 17OHD, a rare disease, we described the clinical features and performed CYP17A1 gene analysis in 8 affected Chinese patients.

METHODS:

Patients with complete (7/8) or partial (1/8) 17OHD were derived from 6 families. The diagnosis was established according to their clinical, biochemical, hormonal, and radiological characteristics. Long-term follow-up of some patients was also designed.

RESULTS:

Patients with 17OHD suffered from varying degrees of hypokalemia and hypertension. Symptoms in female patients with partial 17OHD manifested as secondary amenorrhea, recurrent ovarian cysts, elevated estradiol level, and lower follicle-stimulating hormone and luteinizing hormone levels; primary amenorrhea was typical in patients with complete 17OHD. Adrenal masses and decreased bone mineral density (BMD) were discovered in 2 patients, respectively. During long-term follow-up, 4 patients developed low BMD, while 3 individuals underwent respiratory infections and recurrent urinary tract infections. CYP17A1 gene analysis revealed 7 different kinds of mutation, including 1 novel mutation, L266V.

CONCLUSION:

The clinical characteristics of partial 17OHD were different from those of complete 17OHD. Low BMD and infections were common in patients with 17OHD on long-term steroid treatment. Seven mutations were identified in the CYP17A1 gene, and 1 was novel.

ABBREVIATIONS:

ACTH = adrenocorticotropic hormone BMD = bone mineral density CAH = congenital adrenal hyperplasia CT = computed tomography DEXA = dual-energy X-ray absorptiometry DEX = dexamethasone 17OHD = 17α-hydroxylase/17, 20-lyase deficiency.

• Authors: Chaoming Wu, Shanshan Fan, Yanying Qian, Yingying Zhou, Jian Jin, Zhijuan Dai, Ling Jiang
• Journal: Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists (Endocr Pract) Vol. 23 Issue 5 Pg. 576-582 (May 2017) ISSN: 1530-891X [Print] United States
• PMID: 28225307 (Publication Type: Case Reports, Journal Article)

Chemical References

• Adrenocorticotropic Hormone
• Follicle Stimulating Hormone
• CYP17A1 protein, human
• Steroid 17-alpha-Hydroxylase

Topics

• 46, XX Disorders of Sex Development (genetics, pathology)
• Adolescent
• Adrenal Hyperplasia, Congenital (diagnosis, genetics, pathology)
• Adrenocorticotropic Hormone (blood)
• Adult
• Amenorrhea (genetics, pathology)
• China
• DNA Mutational Analysis
• Female
• Follicle Stimulating Hormone (blood)
• Gonadal Dysgenesis, 46,XY (genetics, pathology)
• Humans
• Steroid 17-alpha-Hydroxylase (genetics)
• Young Adult