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Results 1 - 10 of 17 for Abnormal external genitalia
  1. Sudden infant death with dysgenesis of the testes syndrome 
    ... Y chromosome in each cell, have underdeveloped or abnormal testes. They may also have external genitalia that appear female-typical or that do not look clearly male or clearly female. In affected infants who are ... with abnormal development of the brain, particularly the brainstem, which ...
    https://medlineplus.gov/...th-with-dysgenesis-of-the-testes-syndrome - Genetics
  2. Perrault syndrome 
    ... worsen over time.Females with Perrault syndrome have abnormal or missing ovaries (ovarian dysgenesis), although their external genitalia are normal. Severely affected girls do not begin ...
    https://medlineplus.gov/genetics/condition/perrault-syndrome - Genetics
  3. Aromatase deficiency 
    ... pattern (46,XY) and are born with male external genitalia. Some men with this condition have decreased sex drive, abnormal sperm production, or testes that are small or ...
    https://medlineplus.gov/genetics/condition/aromatase-deficiency - Genetics
  4. X-linked lissencephaly with abnormal genitalia 
    ... Another key feature of XLAG in males is abnormal genitalia that can include an unusually small penis (micropenis), undescended testes (cryptorchidism), or external genitalia that do not look clearly male or ...
    https://medlineplus.gov/...ked-lissencephaly-with-abnormal-genitalia - Genetics
  5. Müllerian aplasia and hyperandrogenism 
    ... system in females. This condition is caused by abnormal development of the ... external genitalia, and they develop breasts and pubic hair normally ...
    https://medlineplus.gov/.../mullerian-aplasia-and-hyperandrogenism - Genetics
  6. Frasier syndrome 
    ... 46,XY), they have gonadal dysgenesis, in which external genitalia do not look ... These abnormal gonads are nonfunctional and often become cancerous, so ...
    https://medlineplus.gov/genetics/condition/frasier-syndrome - Genetics
  7. CHARGE syndrome 
    ... penis (micropenis) and undescended testes (cryptorchidism). Abnormalities ... is an abnormal connection (fistula) between the esophagus and the trachea. ...
    https://medlineplus.gov/genetics/condition/charge-syndrome - Genetics
  8. 17 alpha-hydroxylase/17,20-lyase deficiency 
    ... with sexual development lead to abnormalities of the external genitalia. The most severely affected are born with characteristically female external genitalia and are generally raised as females. However, because ...
    https://medlineplus.gov/...-alpha-hydroxylase-17-20-lyase-deficiency - Genetics
  9. Campomelic dysplasia 
    ... Internal reproductive organs may not correspond with the external genitalia; the internal organs can be male (testes), female ( ... the two. For example, an individual with female external genitalia may have testes or a combination of testes ...
    https://medlineplus.gov/genetics/condition/campomelic-dysplasia - Genetics
  10. 46,XX testicular difference of sex development 
    ... male appearance. People with this condition have male external genitalia. They generally have small testes and may also ... hypospadias). A small number of affected people have external genitalia that do not look clearly male or clearly ...
    https://medlineplus.gov/...-testicular-difference-of-sex-development - Genetics
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