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10 results
  1. Perrault Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK242617
    ... air conduction. Ovarian dysfunction in women with a 46,XX karyotype . The spectrum of ovarian dysfunction extends across a continuum from primary ovarian insufficiency (POI) to ovarian dysgenesis. POI is defined as cessation of menses before ...
  2. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... females may have abnormal development of the ovaries (ovarian dysgenesis). Specific changes in the brain as seen using ... with Perrault syndrome have abnormal or missing ovaries (ovarian dysgenesis), although their external genitalia are normal. Severely affected ...
  3. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... XX type, with deafness</other_name><other_name >Ovarian dysgenesis with sensorineural deafness</other_name></other_names></topic>< ...
  4. WNT4 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/wnt4
    ... TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 4; WNT4 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS; SERKAL Gene and ...
  5. Nonsyndromic 46,XX Testicular Disorders of Sex Development - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1416
    ... 46,XY DSD) and 46,XY complete gonadal dysgenesis (46,XY CGD) but not in individuals with a 46,XX testicular DSD. Normal gene product . SRY encodes a ...
  6. SRY gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/sry
    ... this condition have a female-typical chromosome pattern (46,XX karyotype) and tissue from both female and male reproductive organs (ovarian and testicular tissue). Other Names for This Gene ...
  7. Differences of sex development 
    https://medlineplus.gov/ency/article/001669.htm
    ... tumors in the mother. These are most often ovarian tumors. Mothers who have children with 46,XX DSD should be checked for this unless there ...
  8. NR5A1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/nr5a1
    ... of sex development MedlinePlus Genetics provides information about 46,XX ... gonadal dysgenesis. Affected individuals may have external genitalia that do ...
  9. Genetic Conditions: X 
    https://medlineplus.gov/genetics/condition-x
    ... linked severe combined immunodeficiency XX male syndrome, see 46,XX testicular ... dysgenesis, see Swyer syndrome Xylitol dehydrogenase deficiency, see Essential ...
  10. xmlmplus_topics_2024-05-04.xml 
    https://medlineplus.gov/xml/mplus_topics_2024-05-04.xml
    ... Defectos congénitos</language-mapped-topic><mesh-heading ><descriptor >Congenital Abnormalities</descriptor></mesh-heading><other-language >Spanish</other-language>< ...