Abstract
Patients with Down syndrome are reported to have delayed puberty and abnormal sexual development. However, the role of institutionalized life has not always been considered. For this reason, we studied a group of patients who were raised in their family environment (age range: 1 month to 24 years). Two of the male subjects had abnormal sexual differentiation, one with hypospadias, and one with bilateral cryptorchidism. None had significantly delayed puberty.
Serum gonadotropin levels were determined in the sexually mature male subjects (> 16 years). Serum levels of FSH in all subjects (mean 15.6, range 12.3-22.3 mIU/ml) were above the range for normal adult men (0.6-11.2 mIU/ml), but serum levels of LH (mean 14.3, range 9.1-21.6 mIU/ml) were above normal (3.0-12.0 mIU/ml) only in about one half of the subjects.
In male infants with Down syndrome (≤ 6 months), serum FSH levels (mean 4.2, range 0.6-8.8 mIU/ml) and serum LH levels (mean 7.6, range 5.8-9.1 mIU/ml) were all in the normal range for this age group. However, plasma testosterone levels (mean 22, range 0-44 ng/dl) were all inappropriately low despite normal LH values.
In summary, our data suggest that 1) the underlying defect in abnormal sexual development in patients with Down syndrome is primary gonadal failure, and 2) this defect is already present in the first year of life.
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Hsiang, H., Berkovitz, G. & Migeon, C. 161 GONADAL FUNCTION IN PATIENTS WITH DOWN SYNDROME. Pediatr Res 19, 630 (1985). https://doi.org/10.1203/00006450-198506000-00181
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DOI: https://doi.org/10.1203/00006450-198506000-00181