Genetic disorders in normally androgenized infertile men and the use of intracytoplasmic sperm injection as a way of treatment.

OBJECTIVE: To determine the incidence of chromosomal abnormalities in normally androgenized infertile men with no other recognized causes of infertility or who had ever been submitted to other unsuccessful methods of treatment. DESIGN: Collaborative retrospective study of clinical experience collected by an endocrinologist and a geneticist over a 5-year period. SETTING: Outpatients at an endocrinology clinic. PATIENT(S): Infertile male patients with azoospermia (n = 23), oligozoospermia (n = 66), and normozoospermia (n = 14) presenting normal (n = 85) or subnormal (n = 18) testicular volume. INTERVENTION(S): All patients were submitted to cytogenetic analysis. MAIN OUTCOME MEASURE(S): Two patients were referred to intracytoplasmic sperm injection (ICSI), and in one case, a successful gemellar pregnancy ended up uneventful. Children's genetic testing were not performed according to parents' request. RESULT(S): Abnormal karyotypes were found in 11 (10.6%) patients. Chromosomal abnormalities were found in 17.3% of the 23 azoospermic patients, in 10.6% of the 66 oligozoospermic patients, and in none of the 14 normozoospermic patients. These disorders were found only in patients with normal testicular volumes and no more than 10 x 10(6) spermatozoa per mL. CONCLUSION(S): A high incidence of chromosomal abnormalities was found in a selected group of normally androgenized infertile male patients. The elevated rate of fertilization achieved in one patient indicates that ICSI is, at the moment, the only choice for treatment of male infertility because of chromosomal abnormalities.

Male infertility due to congenital adrenal hyperplasia: testicular biopsy findings, hormonal evaluation, and therapeutic results in three patients.

Testicular biopsy in three infertile male patients with congenital adrenal hyperplasia showed different grades of germinal epithelium maturation, and no Leydig cells in the interstitium. In two patients with severe germinal cell hypoplasia, very low serum gonadotropins showed no response to luteinizing hormone-releasing hormone stimulation and responded to long-term clomiphene citrate administration. It is hypothesized that an increase of hypothalamic estrogen production because of local androstenedione aromatization might be responsible for the luteinizing hormone-releasing hormone block observed in these patients. All patients were submitted to adrenal suppressive therapy, and in two cases a return of the fertility status was obtained.