A Patient with Partial 17α-Hydroxylase Deficiency Initially Diagnosed with Asherman Syndrome and Pheochromocytoma

• Published in: International Heart Journal Vol. 65; no. 1; pp. 159 - 164
• Main Authors: Yu, Hongxiao, Liu, Xiping, Nie, Zhihua, Xia, Yanhua
• Format: Journal Article
• Language: English
• Published: Japan International Heart Journal Association 31.01.2024; Japan Science and Technology Agency
• Subjects: Adrenal cortex; Adrenal glands; Biopsy; Computed tomography; Emergency medical care; Genetic analysis; Hypertension; Hypokalemia; Hypomenorrhea; Infertility; Mutation; Patients; Pheochromocytoma; Hypertension; Hypokalemia; Hypomenorrhea
• ISSN: 1349-2365; 1349-3299
• DOI: 10.1536/ihj.22-407

This study present a case of a 49-year-old woman who suffered from resistant hypertension, hypokalemia, hypomenorrhea, and infertility. She was hospitalized 6 years earlier for hypomenorrhea and abdominal pain at the Xiamen Maternity and Child Health Hospital, where she was diagnosed with Asherman syndrome. During hospitalization, a computed tomography examination revealed an adrenal mass. She was referred to Xiamen University Affiliated Zhongshan Hospital for pheochromocytoma and underwent surgical resection of the left adrenal gland. The adrenal cortex adenoma was confirmed by pathological biopsy. Six years later, the patient also presented with hypertension and hypokalemia to our emergency department. A diagnosis of 17α-hydroxylase deficiency was established through the analysis of clinical and laboratory characteristics. The genetic analysis of CYP17A1 revealed compound heterozygous mutations, 1 of which was a mutation of c.1226 C>G, and the other c.297+2T>C.