Abstract
Serum testosterone levels increase during early infancy in boys. Testicular failure occurs in patients with Klinefelter's syndrome, but it is not known whether testicular function is impaired during early infancy in these subjects. In order to answer this question, we studied total testosterone (T), testosterone binding globulin (TeBG), and free testosterone (FT) plasma levels during the first year of life in an infant with Klinefelter's syndrome. The newborn had intrauterine growth retardation, persistent patent ductus arteriosus and bilateral undescended testes. Karyotype was 47 XXY. Developmental milestones were retarded. Ligation of the ductus was undertaken at age 1 yr and orchiopexy at age 2 9/12 yrs. Endocrine studies were compared with cross-sectional measurements obtained in normal male infants of the same age.
T, TeBG and FT levels were low from 1 to 4 months of age in the XXY infant. These results suggest that testicular failure may be present during early infancy in some patients with Klinefelter's syndrome. It is not known whether the low androgen levels observed in this patient are related to his genetic condition and/or his undescended testes.
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Young, I., Ratcllffe, S., Booth, J. et al. 505 ANDROGEN LEVELS IN AN INFANT WITH KLINEFELTER'S SYNDROME. Pediatr Res 19, 195 (1985). https://doi.org/10.1203/00006450-198504000-00535
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DOI: https://doi.org/10.1203/00006450-198504000-00535