True hermaphroditism in 45,X/46,XY mosaicism.
This report discusses the clinical findings on two patients with 45,X/46,XY mosaicism, two boys presented with penile hypospadias and cryptorchidism. A dysgenetic ovary and a testis were found in one boy, and a dysgenetic ovary in the other. Both patients can be considered to be true hermaphrodites on the basis of histology and clinical and hormonal observations. 45,X/46,XY mosaics have a wide range of phenotypic appearances and their gonadal morphology can also show great differences. However, the incidence of true hermaphroditism in individuals with 45,X/46,XY mosaicism is low and the reports in the literature rare. It is likely that males with 45,X/46,XY who suffer only mild maldevelopment of the external genitalia will not be recognized. In all patients with penoscrotal hypospadias and cryptorchidism with 45,X/46,XY mosaicism, the possibility of true hermaphroditism should be considered.
Department of Pediatrics, Free University, Amsterdam, The Netherlands.
R K
RK
Linskens
R J
RJ
Odink
J C
JC
van der Linden
S
S
Ekkelkamp
H A
HA
Delemarre-van de Waal
D002648:Child; D002675:Child, Preschool; D003456:Cryptorchidism / Q000235:genetics; D012734:Disorders of Sex Development / Q000235:genetics* / Q000473:pathology; D005260:Female; D006060:Gonadal Dysgenesis, Mixed / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007021:Hypospadias / Q000235:genetics; D008297:Male; D009030:Mosaicism; D010053:Ovary / Q000002:abnormalities; D010641:Phenotype; D013737:Testis / Q000002:abnormalities; D014960:X Chromosome; D014998:Y Chromosome