High prevalence of reduced fecundity in men with congenital adrenal hyperplasia.
BACKGROUND
Testicular adrenal rest tumors (TARTs) are regarded to contribute to the high prevalence of subfertility in males with congenital adrenal hyperplasia (CAH).


OBJECTIVE
Our objectives were to evaluate reduced fecundity and its possible causes in well-controlled adult males with CAH, and to investigate diagnostic tools for improved treatment monitoring with respect to fertility outcomes.


METHODS
In a cross-sectional study at the Department of Endocrinology at the University Hospital München, Germany, 22 adult male CAH patients (15 salt wasting and seven simple virilizing, age 19-48 yr) were clinically assessed according to their hormonal control. We performed testicular ultrasound (22 of 22), magnetic resonance imaging (18 of 22), and a semen analysis (19 of 22) in the participants.


RESULTS
All patients had a pathological semen analysis. TART prevalence was 10 of 22 (eight salt wasting, two simple virilizing). Poor therapy control was present in five patients, and all five had TARTs. Of the other 17 well-controlled patients with normal or suppressed adrenal androgens and 17-hydroxyprogesterone levels, five presented with TARTs. There was a significant correlation between sperm concentration and functional testicular volume (r = 0.70; P = 0.002), TART volume (r = -0.70; P = 0.036), as well as inhibin B levels (r = 0.75; P < 0.0001), respectively. In several men, hormonal control parameters suggested hypogonadism, with glucocorticoid overtreatment as a relevant factor for poor semen quality.


CONCLUSIONS
Poor semen parameters are common in male CAH patients. TARTs, most likely reflecting undertreatment, as well as inhibin B are important indicators of fecundity. On the other hand, long-term glucocorticoid overtreatment also seems to contribute to low semen quality.
Reisch
Nicole
N
Endocrinology and Metabolism, University Hospital München, D-80336 München, Germany. nicole.reisch@med.uni-muenchen.de
Flade
Linda
L
Scherr
Michael
M
Rottenkolber
Marietta
M
Pedrosa Gil
Francesco
F
Bidlingmaier
Martin
M
Wolff
Hans
H
Schwarz
Hans-Peter
HP
Quinkler
Marcus
M
Beuschlein
Felix
F
Reincke
Martin
M
D000312:Adrenal Hyperplasia, Congenital / Q000150:complications* / Q000453:epidemiology*; D000314:Adrenal Rest Tumor / Q000097:blood / Q000000981:diagnostic imaging; D000328:Adult; D015331:Cohort Studies; D005298:Fertility / Q000502:physiology*; D005640:Follicle Stimulating Hormone / Q000097:blood; D006728:Hormones / Q000097:blood / Q000378:metabolism; D006801:Humans; D007248:Infertility, Male / Q000453:epidemiology* / Q000209:etiology*; D007265:Inhibins / Q000097:blood; D007985:Leydig Cells / Q000502:physiology; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D008875:Middle Aged; D012463:Saliva / Q000737:chemistry; D012661:Semen / Q000737:chemistry / Q000166:cytology; D013076:Sperm Count; D013091:Spermatogenesis; D013737:Testis / Q000000981:diagnostic imaging; D013739:Testosterone / Q000097:blood; D016896:Treatment Outcome; D014463:Ultrasonography; D055815:Young Adult
D006728:Hormones; C422364:inhibin B; D013739:Testosterone; D007265:Inhibins; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone