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Diagnosis of 17-alpha hydroxylase deficiency performed late in life in a patient with a 46,XY karyotype
SUMMARY: 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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Bioscientifica Ltd
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10337863/ https://www.ncbi.nlm.nih.gov/pubmed/37199305 http://dx.doi.org/10.1530/EDM-22-0338 |