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...

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Detalles Bibliográficos
Autores principales: Bouça, Bruno, Cascão, Mariana, Fiúza, Pedro, Amaral, Sara, Bogalho, Paula, Silva-Nunes, José
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2023
Materias:
Unique/Unexpected Symptoms or Presentations of a Disease
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

Internet

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

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