Classic and non-classic 21-hydroxylase deficiency can be discriminated from P450 oxidoreductase deficiency in Japanese infants by urinary steroid metabolites

We previously reported a two-step biochemical diagnosis to discriminate classic 21-hydroxylase deficiency (C21OHD) from P450 oxidoreductase deficiency (PORD) by using urinary steroid metabolites: the pregnanetriolone/tetrahydrocortisone ratio (Ptl / the cortisol metabolites 5α- and 5β-tetrahydrocort...

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Detalles Bibliográficos
Autores principales: Koyama, Yuhei, Homma, Keiko, Fukami, Maki, Miwa, Masayuki, Ikeda, Kazushige, Ogata, Tsutomu, Murata, Mitsuru, Hasegawa, Tomonobu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2016
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4860514/
https://www.ncbi.nlm.nih.gov/pubmed/27212795
http://dx.doi.org/10.1297/cpe.25.37

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4860514/
https://www.ncbi.nlm.nih.gov/pubmed/27212795
http://dx.doi.org/10.1297/cpe.25.37

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