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


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


X-linked recessive but more frequently sporadic.


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.


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.


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.


No anesthetic considerations specifically related to the infertile male syndrome.


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.

Aiman J, Griffin JE, Gazak JM, et al: Androgen insensitivity as a cause of infertility in otherwise normal men. N Engl J Med 300:223, 1979.  [PubMed: 759869]
Dejager S, Bry-Gauillard H, Bruckert E, et al: A comprehensive endocrine description of Kennedy's disease revealing androgen insensitivity linked to CAG repeat length. J Clin Endocrinol Metab 87:3 893, 2001.
Griffin JE, Mc Phaul MJ, Russel DW, et al: The androgen resistance syndromes: Steroid 5-reductase 2 deficiency, testicular feminization and related disorders, in Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York, McGraw Hill, 1995, p 2981.

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