Reported Fertility in Men With 21Hydroxylase Deficiency

Fertility can be documented by studying child rate or by indirect methods, such as the semen analysis or measurement of serum follicle-stimulating hormone (FSH) and luteinizing hormone (LH) levels.

Reports on child rate in males with CAH are rare. Jaaskelainen et al. (2) found a child rate of 0.07 in the complete Finnish male CAH population, compared to 0.34 in age-matched Finnish males. Other authors reported parenthood only as additional information in smaller and selected patient populations. Urban et al. (3) described 14 fathers in 20 male patients (aged 18 to 37 yr), Wusthof et al. (4) reported paternity in 6 of 53 adult patients; Cabrera et al. (5) in 2 of 30 patients (aged 17 to 43 yr).

The results from the semen analysis are more frequently reported but usually only in a subgroup of the study population, because not all patients are willing to provide a semen sample for analysis. The semen analysis was normal in 8 of 10 patients studied by Urban et al. (3) (total patient group 20) but in only 8 of 53 patients reported by Wusthof et al. (4) (total patient group 53), 7 of 16 patients from Cabrera et al. (5) (total patient group 30), and 4 of 11 patients reported by Stikkelbroeck et al. (6) (total patient group 17). Taking the results of these last three studies, 80 of the 100 patients agreed to provide semen for analysis. Of these 80 patients, only 19 (24%) had normal semen quality. Most reports on semen analysis, however, are results of single samples. This represents a limited assessment of semen quality, because the (daily) variability in semen quality is substantial based on data from healthy men (7). In addition, fertility in CAH males may change throughout the years. This is illustrated by two men in the study by Cabrera et al. (5), who had previously fathered a child but were later judged to be infertile based on semen analysis.

Measurements of serum FSH and LH levels are also used to assess fertility. A decreased FSH level may indicate hypogonadotropism (especially when associated with decreased LH levels), whereas a strongly elevated FSH level implies severe Ser-toli cell damage. Jaakelainen et al. (2) found no differences in the LH, FSH, and inhibin levels in 16 male patients with CAH and controls. In three other studies with 55 patients, abnormal FSH values were found in 13 men (24%): decreased levels in 4 (with LH decrease in 2 of them) and increased FSH levels in 9 patients (with LH increase in 2 of them) (3,5,6).

In summary, there is substantial evidence that fertility can be impaired in male patients with CAH. This finding raises the question to what extent male subfertility in the general population is caused by undiagnosed CAH. Ojeifo et al. (8) investigated basal and ACTH-stimulated serum 17-hydroxyprogesterone levels in a population of 50 males with idiopathic infertility and compared the results with those of 25 controls. No differences in basal or stimulated levels were found, and they concluded that 21-hydroxylase deficiency is a rare cause of idiopathic male infertility.

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