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
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
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
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.