Partial androgen insensitivity syndrome; Incomplete male pseudohermaphroditism
Symptoms:
Abnormal male genitals, including undescended testes; a small scrotum, with a line down the middle (bifid) or incompletely closed; a small penis; and hypospadias (the urethra exits the body on the side of the penis, not the tip)
Breast development in males at time of puberty
Infertility
Decreased body hair and beard with normal pubic and armpit hair
Signs and tests:
Male chromosomes -- X,Y
High testosterone and luteinizing hormone level in blood
Low or absent sperm count
Testicular biopsy shows no mature sperm despite normal precursors
Decreased or absent vas deferens (the tubes through which sperm exit the testes)
Partial development of female gonads/sex organs
Decreased ability to bind androgen in cell culture tests
Mutations in the androgen receptor gene can be tested for diagnosis, carrier detection and prenatal diagnosis.
Family history of affected males who share a common, unaffected female relative consistent with X-linked recessive inheritance
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