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

Int Heart J. 2024 Jan 31;65(1):159-164. doi: 10.1536/ihj.22-407. Epub 2023 Dec 27.

Abstract

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.

Keywords: Hypertension; Hypokalemia; Hypomenorrhea.

Publication types

  • Case Reports

MeSH terms

  • Adrenal Gland Neoplasms* / complications
  • Adrenal Gland Neoplasms* / diagnosis
  • Adrenal Gland Neoplasms* / genetics
  • Adrenal Hyperplasia, Congenital* / diagnosis
  • Adrenal Hyperplasia, Congenital* / genetics
  • Child
  • Female
  • Gynatresia*
  • Humans
  • Hypertension*
  • Hypokalemia*
  • Menstruation Disturbances
  • Middle Aged
  • Mutation
  • Pheochromocytoma* / complications
  • Pheochromocytoma* / diagnosis
  • Pheochromocytoma* / genetics
  • Pregnancy