TURNER'S PHENOTYPE IN THE MALE

The clinical and laboratory findings in four males with the Turner9s phenotype are reported. Three of the four patients had some evidence of testicular deficiency. Biopsy in one instance revealed abnormal spermatogenesis, thickening of the tubular basement membrane, interstitial fibrosis, and absence of Leydig cells. The dermatoglyphic findings in three of the four patients were in keeping with those previously reported in females with Turner9s syndrome. No chromosome abnormality could be demonstrated, and extensive cytological investigations in one patient failed to produce evidence of sex chromosome mosaicism. Review of the literature suggests that only in a few cases is the Turner9s phenotype in the male connected with a sex chromosome aberration. The majority of cases occur sporadically and only exceptionally can a genetic transmission be suspected.