Mixed gonadal dysgenesis and cell line differentiation. Case presentation and literature review.
A male patient with mixed gonadal dysgenesis, involving a streak gonad on the right and a histologically normal testis in the left, was found to have a 45,X/46,X,dic(Yp) chromosome constitution on peripheral blood cultures. Fibroblasts grown from both gonads showed the "normal" testicular tissue to have e 45,X/46,X,dic(Yp), whereas the cells from the streak gonad were all 45,X. The structure of the dic(Yp) chromosome was confirmed using non-isotopic in situ hybridization with Y centromere and Yp specific probes. On hormonal stimulation, testosterone levels rose by 50%. The "normal" testis was left in situ, but close follow up will be required in view of the malignant potential.
Sugarman
I D
ID
Department of Paediatric Surgery, Southampton General Hospital, England.
Crolla
J A
JA
Malone
P S
PS
D002454:Cell Differentiation; D006060:Gonadal Dysgenesis, Mixed / Q000196:embryology* / Q000235:genetics / Q000473:pathology; D006801:Humans; D017403:In Situ Hybridization; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D009095:Mullerian Ducts; D013737:Testis / Q000002:abnormalities; D014998:Y Chromosome