PEDIATRICS Vol. 93 No. 6 June 1994, pp. 992-995
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Do Young Boys With Fragile khgr Syndrome Have Macroorchidism?

Ave M. Lachiewicz MD1 and Deborah V. Dawson PhD2

1 Department of Pediatrics, Duke University Medical Center, Durham, NC
2 Department of Biometry, Duke University Medical Center, Durham, NC

Objective. Macroorchidism is one of the most well-described clinical characteristics of men with fragile khgr syndrome, but little information has been available regarding macroorchidism in prepubertal boys with fragile khgr. The purpose of this study was to learn whether macroorchidism is a characteristic of fragile khgr syndrome in prepubertal boys.

Methods. Clinical assessments were performed on 73 boys, 2.2 to 10.2 years, in whom fragile khgr either had been diagnosed or who had been referred for fragile khgr evaluations because of developmental delays. As part of these assessments, we measured testicular volumes using Prader orchiometer beads to find out if macroorchidism occurs before the onset of puberty.

Results. From 2.2 through 7 years, boys with fragile khgr have significantly larger mean testicular volumes than boys without fragile khgr, but macroorchidism (ge4.0 mL or ge2 times normal) only occurred in 1 of 27 boys with fragile khgr. From 8 to 10 years, all our patients with fragile khgr had clinically enlarged testicles (ge3.75 mL), and 7 of 9 boys with fragile khgr had macroorchidism (ge4.0 mL). The testicular volumes of control subjects were all le3.0 mL.

Conclusions. These findings suggest that macroorchidism occurs in some prepubertal boys with fragile khgr, but in this series it did not occur until age 6 and usually did not occur until after age 8.

Submitted on June 21, 1993
Accepted on October 28, 1993




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