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Syndrom mężczyzny XX znany również jako Syndrom De La Chapelle, jest rzadką wrodzoną interpłciową przypadłością z 46 kariotypem XX (w innym przypadku kojarzone z płcią żeńską) ma męskie cechy fenotypowe, które mogą się różnić między przypadkami [1].
XX male syndrome, also known as de la Chapelle syndrome, is a rare condition in which an individual with a 46,XX karyotype develops a male phenotype. [2] Synonyms for XX male syndrome include 46,XX testicular difference of sex development (or 46,XX DSD) [3] [4] [5] [6]
A rare condition in which a person with two X chromosomes has male external genitalia and other features. Learn about the causes, symptoms, inheritance, and resources for this disease also known as De la Chapelle syndrome or XX, male syndrome.
2 sty 2024 · XX male syndrome also known as De la Chapelle syndrome/Testicular Disorder of Sex Development (DSD) is a rare genetic abnormality, identified by a partial or complete mismatch between phenotypic and genotypic gender of an individual.
30 lis 2022 · Also known as de La Chapelle syndrome, named after the first case reporting in 1964, few cases have been reported since then. Ninety percent of the XX males are sex-determining region of the Y chromosome (SRY) positive and the rest are SRY negative.
23 mar 2006 · XX male syndrome is a rare disorder with a frequency of 1 in 20 000–25 000 males (de la Chapelle, 1981). These exist in three clinical categories: XX males with normal genitalia; XX males with ambiguous genitalia; and XX true hermaphrodites with ovarian and testicular tissues (de la Chapelle, 1987). According to the presence or absence of the ...
31 paź 2020 · Among all cases of 46, XX testicular DSD, 80% originate from the translocation of Y chromosome material with the SRY gene during meiosis (de la Chapelle et al., 1990). The presence of the Y chromosome in DSD patients increases the risk for a gonadal tumor ( Pleskacova et al., 2010 ).
