A 45,X/46,XY DSD (Disorder of Sexual Development) case with an extremely uneven distribution of 46,XY cells between lymphocytes and gonads
| Autor: | Michiyo Okada, Takumi Akashi, Risa Nomura, Kenichi Kashimada, Michiko Kajiwara, Masaki Sekine, Tsutomu Ogata, Kentaro Miyai, Makoto Ono, Iichiro Onishi, Shuki Mizutani, Mana Sato |
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| Jazyk: | angličtina |
| Rok vydání: | 2015 |
| Předmět: |
Genetics
education.field_of_study endocrine system Endocrinology Diabetes and Metabolism Population XY karyotype Fish analysis Biology Peripheral blood FISH (fluorescence in situ hybridization) Andrology Endocrinology mosaicism chimerism SRY Pediatrics Perinatology and Child Health Original Article Development of the gonads education 45 X/46 XY DSD (disorder of sexual development) |
| Zdroj: | Clinical Pediatric Endocrinology |
| ISSN: | 1347-7358 0918-5739 |
| Popis: | In 45,X/46,XY DSDs, the proportion of the two cell lineages is uneven in different organs and tissues, and 45,X and 46,XY cells can be found throughout the body. The gonadal development of 45,X/46,XY patients depends on the population of 46,XY cells in the gonads and the clinical features are variable. We had a 45,X/46,XY DSD patient whose 46,XY population in peripheral blood was extremely low, less than 0.2%, and was not detected by FISH analysis. However, the patient showed bilateral testicular development and more than 50% of the cells in the gonads had the 46,XY karyotype. This case suggests that a drastically imbalanced distribution could occur in 45,X/46,XY DSD cases. |
| Databáze: | OpenAIRE |
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