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At a glance

Azoospermia or severe oligospermia in otherwise normal men caused by androgen insensitivity.

Incidence

May account for up to 10% cases of male infertility.

Genetic inheritance

X-linked recessive but more frequently sporadic.

Pathophysiology

Androgen resistance occurs because of an abnormality of the androgen receptor of the target cells (principally the testes). A history of infertility with severe oligospermia or azoospermia in phenotypically normal individuals occurs as a consequence of the depression of the dihydrotestosterone (DHT)-binding capacity.

Diagnosis

Some affected men come from families with Reifenstein Syndrome (male pseudohermaphrodism with hypospadias, hypogonadism, gynecomastia, normal XY karyotype, and pedigree consistent with X-linked recessive inheritance). The majority of patients have no family history. In the process of evaluating adolescents in a family with Reifenstein Syndrome or when investigating male infertility, normal or higher plasma levels of testosterone are found with increased plasmatic levels of luteinizing hormone and markedly depressed DHT-binding capacity of cultured genital-skin fibroblasts.

Clinical aspects

Normal male external genitalia with normal wolffian duct structures, occasional gynecomastia, and sometimes minimal male beard and body hair. Infertility is a result of absence or deficiency of sperm production.

Anesthetic considerations

No anesthetic considerations specifically related to the Infertile Male Syndrome.

Other conditions to be considered

Other forms of receptor anomalies, especially the following:

  • Complete Androgen Insensitivity Syndrome: X-linked pseudohermaphrodism caused by defective or deficient androgen receptor proteins. Usually not recognized until puberty because there is primary amenorrhea. Patients develop female secondary sex characteristics (unopposed action of adrenal estrogens), but pubic and axillary hair is scant and the vagina is atrophic. Although there is no cervix and uterus, examination finds epididymides, seminal vesicles, and prostate.

  • Klinefelter Syndrome (47-XXY; XXY): Characterized by male sterility. Symptoms include muscle weakness, gigantism, poor coordination, alopecia, hypogonadism, male breasts, and no libido. About 10% of Klinefelter cases are found by prenatal diagnosis. The first clinical features may appear in early childhood or, more frequently, during puberty. The lack of secondary sexual characteristics and aspermatogenesis later in young adulthood confirms the diagnosis. It is important to notice that there is no relationship between the presence of small testes and Klinefelter as only 25% of the affected males have the disease. About 64% of affected individuals are never recognized.

  • Reifenstein syndrome (Partial Androgen Insensitivity Syndrome; PAIS): People with PAIS may have both male and female physical characteristics. These may include: 1) abnormal male genitals, hypospadias, small penis, small scrotum undescended testis, breast development in males at time of puberty, decreased body hair and beard but normal pubic hair presence. Sexual dysfunction and infertility are both characteristics of this medical condition.

References

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Aiman  J, ...

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