A Patient with Partial 17α-Hydroxylase Deficiency Initially Diagnosed with Asherman Syndrome and Pheochromocytoma.
Int Heart J
; 65(1): 159-164, 2024 Jan 31.
Article
em En
| MEDLINE
| ID: mdl-38148007
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Feocromocitoma
/
Neoplasias das Glândulas Suprarrenais
/
Hiperplasia Suprarrenal Congênita
/
Ginatresia
/
Hipertensão
/
Hipopotassemia
Limite:
Child
/
Female
/
Humans
/
Middle aged
/
Pregnancy
Idioma:
En
Revista:
Int Heart J
Assunto da revista:
CARDIOLOGIA
Ano de publicação:
2024
Tipo de documento:
Article
País de publicação:
Japão