2 documents found, page 1 of 1
Diagnosis of 17-alpha hydroxylase deficiency performed late in life in a patien...
Bouça, Bruno; Cascão, Mariana; Fiúza, Pedro; Amaral, Sara; Bogalho, Paula; Silva-Nunes, JoséPublisher Copyright: © 2023 the author(s).; 17-Alpha-hydroxylase deficiency (17OHD) is a rare autosomal recessive disease, representing 1% of cases of congenital adrenal hyperplasia. A 44-year-old female presented to the emergency department complaining of generalized asthenia and polyarthralgia for about 2 weeks. On examination, she was hypertensive (174/100 mmHg), and laboratory results revealed hypokalemia a...
Diagnosis of 17-alpha hydroxylase deficiency performed late in life in a patien...
Bouça, Bruno; Cascão, Mariana; Fiúza, Pedro; Amaral, Sara; Bogalho, Paula; Silva-Nunes, JoséSummary: 17-Alpha-hydroxylase deficiency (17OHD) is a rare autosomal recessive disease, representing 1% of cases of congenital adrenal hyperplasia. A 44-year-old female presented to the emergency department complaining of generalized asthenia and polyarthralgia for about 2 weeks. On examination, she was hypertensive (174/100 mmHg), and laboratory results revealed hypokalemia and hypocortisolism. She had an unch...