PDF《Pure Gonadal Dysgenesis》

Gonadal Tumor and ti-Y Antigen in 46,XY Pure Gonadal Dysgenesis VERONIQUE AMICE, MD,**t JEAN AMICE, MD,* JEAN-PIERRE BERCOVICI, MD,t DENISE RIVIERE,'

AND MARIE-JOSE COROLLEUR, MDS Six cases of Swyer'

s syndrome (46,XY pure gonadal dysgenesis) are reported.

Three patients, without gonadal tumor, had female H-Y antigen. Three patients, after gonadal tumor ablation, had intermediate H-Y antigen levels. Repeated blood samples were obtained from two siblings. H-Y antigen level in the first sibling, who presented with a gonadoblastomaand underwent a gonadectomy before the H-Y assays, was intermediate, and did not show any significant variation for

21 months. H-Y antigen level in the second siblingshowed an increasein the malerange, presumably due to the presenceof gonadoblastomas. After resection of the tumors, H-Y antigen level became intermediate.These findings suggest a relation between the tumorization potentiality of the gonadal remnants and the H-Y antigenlevels in 46,XY pure gonadal dysgenesis. Cancer 57:1313-1317, 1986. HE FREQUENT ASSOCIATIONof gonadal tumors and T forms of gonadaldysgenesishas been noted in many case reports. A genetic constitution with a Y sex chro- mosome, as exemplified by pure 46,XY gonadal dys- genesis(Swyer'

ssyndrome)'

and mixed gonadaldysgenesis (Sohval'

ssyndrome)2highly increasesthe risk of neoplasia in these dysgenetic gonads (estimated to be 25%).3Go- nadoblastoma, dysgerminoma and, more rarely, em- bryonal carcinoma have been found to be associatedwith pure 46,XY gonadal dysgenesis. This syndrome was de- scribed in

1955 by Swyer.'

Swyer'

s syndrome is charac- terized by a female, but eunuchoidal, phenotype that in- cludes: primary amenorrhea;

tall height;

female external genitalia;

female, but infantile, internal genitalia with streak gonads;

and adnexal remnants (uterussometimes absent) in association with a 46,XY karyotype? The genetic mechanism capableof preventingtesticular differentiation in these patients remains to be clarified. The H-Y antigen level is measured in such patients be- cause this minor histocompatibilityantigen seemsto play a role in testicular organizati~n.~?~ H-Y antigen was dis- covered by Eichwald and associates7;

they noted that fe- From the *Laboratoire d'

Histologie, Embryologie et Cytogkn&

tique, Facultk de MCdecine, the tService d'

Endocrinologie, Centre Hospitalier Rkgional et Universitaire Morvan, and the 4Laboratoire d'

Anatomie pathologique, Facult6 de MMecine, Brest, France. Addressfor reprints: VConique Amice, MD, Laboratoired'

Histologie, Embryologieet Cytogknktique,FacultC de Midecine,

22 Avenue Camille Desmoulins,

29279 Brest Cedex, France. The authors thank the Centre rigional de Transfusion sanguine de Rennes, the Centre dkpartemental de Transfusion sanguinede Brest, Dr. Rio (Rennes), Dr. Cordier (Laval) and Dr. Calvez (St. Bneuc) for their cooperation. Accepted for publication June 25, 1985. male CS7B1/6mice rejected skin grafts from syngenic males, and the phenomenon was attributed to a specific male antigen.The detection of the H-Y antigen has been achieved using a number of serologicmethods.'

This an- tigen has since been called: serologically detected male predominant antigen (SDMP)by M. T. Zenzes because low titers of H-Y antigen have been detected in fertile fern ale^.'

,'

^ Consequently, its morphogenetic effects dur- ing embryonic life seem to depend on a threshold, in as- sociationwith the other factors of gonadal organogenesis (gonadosteroids,mulleroinhibin, ere.).It islikely that the structural gene(s) for H-Y antigen is located on an auto- some, activated by a Y-linked regulatory gene in normal 46,XY males, and inactivated by an X-linked regulatory locus in normal 46,XX females. Currently, as a result of studies on patients with X or Y chromosomal dele- tions,I2the repressor gene is attributed to the short arm of the X chromosome, and the activator geneto the short arm of the Y chromosome. H-Y antigen is important in normal male differentia- tion, and we postulate that it is likely to be connected not only with gonadal tumorization but also with some viril- ization signs, such as clitoromegaly, in patients with 46,XY pure gonadal dysgenesis. Table