In male patients with 21-hydroxylase deficiency, as in affected females, adrenal androgens may suppress the hypothalamic-pituitary-gonadal axis, both directly and after conversion to estrogens, thereby leading to hypogonadotropic hypogonadism (12-14).
Augarten et al. described a patient who was referred for secondary infertility and was diagnosed with nonclassic 21-hydroxylase deficiency, as was his daughter (58). Serum FSH and LH levels were decreased and unresponsive to GnRH stimulation. Treatment with prednisone resulted in a decrease in the serum levels of 17-hydrox-yprogesterone and of androgens and restored a normal response to GnRH. After 4 mo of treatment, successful conception occurred (58).
Wischusen et al. described a patient with partial 21-hydroxylase deficiency, azoospermia, small testes, normal to high serum testosterone levels, and suppressed serum levels of gonadotropins. After treatment with glucocorticoids for several months, the semen quality improved, and he fathered a child (59).
Bonaccorsi et al. presented three cases of male infertility resulting from 21-hydrox-ylase deficiency with low serum gonadotropin levels that were unresponsive to GnRH stimulation in two patients (12). Unresponsiveness to GnRH was proposed to result from increased hypothalamic estrogen production from local aromatization of androstenedione, leading to GnRH suppression.
Cabrera et al. described 5 patients (out of a group of 30 patients) with poor adrenal control and suppressed gonadotropin levels; azoospermia was documented in 3 of the patients (5).
The cases described illustrate that hypogonadotropic hypogonadism may occur in males with undiagnosed 21-hydroxylase deficiency or as a result of poor adrenal control. Most reports show reversible hypogonadotropism and improved fertility after increasing glucocorticoid therapy.
Small testes are incidentally reported in males with CAH, especially in poorly controlled patients, who had low FSH levels (12,14,59). In 101 patients, described in four recent studies, 6 patients had small testes, as measured by ultrasonography (2,5,6,9). Plasma FSH levels in these 6 patients were normal in 2 (5), decreased in 2 (5), just above the normal range in 1 (6), and not documented in 1 (9). Therefore, small testes have been observed in patients with CAH, but not frequently, and they are generally found in men with low FSH levels (hypogonadotropism). Testicular volume is relevant with respect to fertility, because it is positively correlated with semen quality (60,61).
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