Reifenstein syndrome

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Male reproductive system

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Reifenstein syndrome

• 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

• 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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