Abstract
In males, congenital adrenal hyperplasia due to 21 hydroxylase deficiency is associated to normal fertility or infertility caused by a hypogonadotrophic hypogonadism (HH) or gonadal damage caused by intratesticular adrenal remnants. We report a 29-year-old male with azoospermia, without any important personal or family background. Physical examination was normal, his height was 150 cm and his testicular volume was 10 ml (normal 15 to 25 ml). Laboratory showed a normal testosterone and FSH and LH in the low normal limit. These results discarded a HH, whose diagnostic requirements are a low testosterone and inadequately normal or low gonadotrophins. A testicular biopsy was informed as compatible with HH. A 21 hydroxylase deficiency was suspected and confirmed with extremely high levels of 17 hydroxyprogesterone at baseline and after stimulation with fast acting ACTH. Clomiphene citrate did not increase testosterone or gonatrophin levels. Testicular ultrasound discarded the presence of adrenal nodules. Betametasone therapy resulted in a normal testicular development, normalization of sperm count, reduction of 17 hydroxyprogesterone and testosterone levels with an ulterior rise of the latter. Spontaneous paternity was achieved twice. It must be remembered that in cases of azoospermia due to congenital adrenal hyperplasia, testosterone produced by adrenal glands hinders the laboratory diagnosis of HH.
Highlights
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency is associated to normal fertility or infertility caused by a hypogonadotrophic hypogonadism (HH) or gonadal damage caused by intratesticular adrenal remnants
We report a 29-year-old male with azoospermia, without any important personal or family background
It must be remembered that in cases of azoospermia due to congenital adrenal hyperplasia, testosterone produced by adrenal glands hinders the laboratory diagnosis of HH. (Rev Med Chile 2011; 139: 1060-1065)
Summary
Alteración de la fertilidad masculina por hiperplasia suprarrenal congénita. En la hiperplasia suprarrenal congénita ( HSC) clásica, el 25% presenta la forma virilizante pura, acelerándose crecimiento lineal y maduración ósea con posterior detención y talla baja; aumento de masa muscular y en el varón pubarquia sin incremento de tamaño testicular. En el varón con defecto menos severo del gen (HSC no clásica o de inicio tardío) se produce infertilidad o sospecha de tumor testicular por crecimiento de RTGS2. La HSC clásica por déficit de la 21 hidroxilasa cursa con 17 hidroxiprogesterona basal elevada y post estímulo con ACTH, androstenediona elevada, T elevada en el prepuber y normal en el post puberal, derivada de la interconversión periférica de la androstenediona suprarrenal. La fertilidad se altera por hipogonadismo hipogonadotropo (HH) secundario a la alteración hormonal de la HSC o daño testicular por crecimiento de RTGS. Presentamos un caso de infertilidad masculina debida a HSC que, tratado con glucocorticoides , normalizó función gonadal
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