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Case 1: John is a 35-year-old executive of a manufacturing company who presented with infertility. He and his wife have had unprotected intercourse over the past 18 months and have not been able to conceive. John has known that he had small testes since college following a regular physical exam. He denies any childhood problems or developmental delay. He does not recollect being different from other boys around puberty. He did grow rapidly, with a height of 5 ft in 4th grade, and 6 ft in 6th grade. He is currently 6 ft 5 inches tall. He has noticed difficulty with erection and libido since age 30 and thought it was normal. He currently has a low libido and at times difficulty in achieving orgasm. His semen analysis 2 months ago revealed azoospermia. What additional testing would you recommend for John?

Infertility is defined as a failure to conceive after 12 months of unprotected intercourse 1-3 and it affects 10% to 15% of American couples. Infertility is a devastating disorder that affects equally men and women, and both male and female evaluations are necessary to optimize a couple's success for conception. Infertility can be syndromic, ie, expressed as part of a major genetic syndrome, or idiopathic, where the cause is unknown and usually confined to the gonads with no obvious extra-gonadal manifestation. A three-generation family pedigree is very helpful in detecting clues to heritable disorders. For example, a family history of infertility and anemia or cancer may indicate Fanconi syndrome, while a family history with infertility in the females and mental retardation among males may indicate the Fragile X syndrome. A detailed physical examination is important to rule out dysmorphic features, which may be an indication of syndromic cause of infertility.


The causes of male infertility include environmental exposures, anatomic obstruction, and genetic, infectious, and autoimmune disorders and other diverse etiologies.1 Male infertility has many psychological, economic, and social sequelae, including decreased quality of life, and can be associated with serious medical disorders.1,12

Among infertile men, almost 20% have azoospermia (no sperm in the ejaculate) or oligozoospermia/oligospermia (low-sperm concentration, less than 15 million sperm per milliliter of ejaculate), while another 20% have asthenospermia (sperm with low motility). Other sperm abnormalities include teratozoospermia (abnormal sperm morphology). Genetic factors are known to play an important role in male infertility, and at least 2300 testes genes may be involved in male fertility.


Studies in infertile men demonstrated that up to 20% carry constitutional chromosome aberrations.4,5 Genomic aberrations found in these patients include numerical abnormalities, such as Klinefelter syndrome and its variants; XYY karyotype; testicular disorders of sex development, such as XX males; structural chromosome rearrangements, including Robertsonian translocations, balanced reciprocal translocations and inversions; as well as submicroscopic ...

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