Coproporphyrinogen Oxidase Deficiency Causes Primary Adrenal Insufficiency and 46,XY DSD
We provided genetic evidence linking CPOX deficiency and PAI with 46,XY DSD, suggesting that the heme synthesis pathway plays an important role in human steroidogenesis.
Authors
- Kosei Hasegawa (ORCID: https://orcid.org/0000-0002-1751-6527)
- Tomohiro Ishii (ORCID: https://orcid.org/0000-0001-7360-2465)
- Yusuke Kawashima (ORCID: https://orcid.org/0000-0002-9779-8199)
- Satoshi Narumi (ORCID: https://orcid.org/0000-0002-0940-4517)
- Ryuji Fukuzawa (ORCID: https://orcid.org/0000-0002-3996-3117)
- Tomonobu Hasegawa (ORCID: https://orcid.org/0000-0002-0143-3989)
- Osamu Ohara (ORCID: https://orcid.org/0000-0002-3328-9571)
- Misa Honda
- Yoshimitsu Goto
Institutions
- Keio University (JP)
- Okayama University Hospital (JP)
- Keio University Hospital (JP)
- Kazusa DNA Research Institute (JP)
- Japanese Red Cross Nagoya Daini Hospital (JP)
- International University of Health and Welfare (JP)
Publication Details
- Journal
- The Journal of Clinical Endocrinology & Metabolism
- Published
- 2025-06-06
- DOI
- https://doi.org/10.1210/clinem/dgaf329
- Citations
- 1
- Primary Topic
- Neonatal Health and Biochemistry
- Type
- article
- Field-Weighted Citation Impact
- 3.49