All males showed cryptorchidism (86% bilateral). Small testes and scrotal hypoplasia were observed in 76% and 69%, respectively. Micropenis was seen in 36%. Twenty-two of 29 males had spontaneous onset of puberty at 14.0±3.2 years but it was incomplete in all cases. Specifically, pubertal changes past Tanner 2-3 genital stages were rarely observed.

In females there was hypoplasia of the labia minora and/or of the clitoris in 71% and 69% of cases. Thirty-four of 39 females had spontaneous onset of puberty at 12.6±2.7 years, with very slow progression. Menarche occurred at a mean age of 17.3±5.2 years in 44% of cases over 14 years of age. Primary amenorrhea was diagnosed in 56%. Menstrual cycles were seldom regular and secondary amenorrhea occurred in 33% who had spontaneous menarche. Of note, premature pubarche occurred in 12 subjects (6 males) and true precocious puberty in 3. It is suggested that premature pubarche might have been related to obesity. Genital and pubertal abnormalities were evenly distributed among subjects with microdeletion and UPD-imprinting defects. Treatment of various types for hypogonadism was discussed, including the use of dihydrotestosterone transdermally. However, no systematic trials on treatment with sex hormone treatment in adolescents or adults are available.

Crino A et al. Eur J Pediatr 2003;162:327-333.

Editor’s Comment: This paper provides interesting information concerning genital abnormalities in individuals diagnosed with PWS, confirmed with genetic testing. The large number of subjects in this descriptive study and the careful presentation of the findings should assist all who work with these patients and who must counsel them and their families in regard to expectations for pubertal development and fertility. It is interesting that sexual precocity was observed at a frequency that should be considered high in this group. This suggests that examination of the genitalia should be performed at each clinical visit. Whether or not current treatment with exogenous GH, which has been shown to significantly alter body composition in PWS, will affect pubertal development remains to be shown.