Diagnosis of 17-alpha hydroxylase deficiency performed late in life in a patient with a 46,XY karyotype
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 hype...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Bioscientifica
2023-06-01
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| Series: | Endocrinology, Diabetes & Metabolism Case Reports |
| Online Access: | https://edm.bioscientifica.com/view/journals/edm/2023/2/EDM22-0338.xml |