Genetic and Clinical Characteristics of 185 Japanese Children With 46,XY Differences of Sex Development
The proportion of monogenic disorders in Japanese 46,XY DSD patients was approximately 26%. Monogenic disorders were frequent among patients with severe undermasculinization of the external or internal genitalia.
Authors
- Hirofumi Ohashi
- Hiroshi Asanuma (ORCID: https://orcid.org/0000-0001-6699-4616)
- Masanori Adachi (ORCID: https://orcid.org/0000-0003-4747-3983)
- Ayuko S. Suwanai
- Hidenori Haruna
- Tomohiro Ishii (ORCID: https://orcid.org/0000-0001-7360-2465)
- Satoshi Narumi (ORCID: https://orcid.org/0000-0002-0940-4517)
- Naoko Amano
- Takeshi Sato (ORCID: https://orcid.org/0000-0002-0535-2975)
- Tomonobu Hasegawa (ORCID: https://orcid.org/0000-0002-0143-3989)
- Koji Muroya (ORCID: https://orcid.org/0000-0002-1810-9894)
- Mie Hayashi (ORCID: https://orcid.org/0000-0002-0633-4373)
Institutions
- Keio University (JP)
- Juntendo University (JP)
- Saitama Children's Medical Center (JP)
- Kanagawa Children's Medical Center (JP)
- National Center For Child Health and Development (JP)
Publication Details
- Journal
- The Journal of Clinical Endocrinology & Metabolism
- Published
- 2024-11-21
- DOI
- https://doi.org/10.1210/clinem/dgae813
- Citations
- 4
- Primary Topic
- Sexual Differentiation and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.94
Funders
- Eli Lilly and Company
- Kawano Masanori Memorial Public Interest Incorporated Foundation
- JCR Pharmaceuticals
- Ministry of Health, Labour and Welfare
- Novo Nordisk Pharma