DHH-associated 46,XY gonadal dysgenesis

DHH-associated 46,XY gonadal dysgenesis can be caused by a mutation in the desert hedgehog gene (DHH; MIM.605423) on chromosome 12q13.

See also

 46,XY pure gonadal dysgenesis

Synopsis

 phenotypic females
 46,XY
 complete gonadal dysgenesis (complete 46,XY pure gonadal dysgenesis)
 bilateral streaks
 infantile uterus
 bilateral fallopian tubes
 unilateral epididymis or bilateral epididymis
 possible gonadal tumors

• possible bilateral gonadoblastoma
• possible bilateral dysgerminoma
• possible immature teratoma

References

 Canto, P., Soderlund, D., Reyes, E., Mendez, J. P. Mutations in the Desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis. J. Clin. Endocr. Metab. 89: 4480-4483, 2004. [PubMed: 15356051]

 Fuqua, J. S., Sher, E. S., Fechner, P. Y., Ostrer, H., Oddeux, C., Schafer, A. J., Rosales, T. O., Migeon, C. J., Berkovitz, G. D. Linkage analysis of a kindred with inherited 46,XY partial gonadal dysgenesis. J. Clin. Endocr. Metab. 81: 4479-4483, 1996. [PubMed: 8954063]

 Jawaheer, D., Juo, S.-H. H., Le Caignec, C., David, A., Petit, C., Gregersen, P., Dowbak, S., Damle, A., McElreavey, K., Ostrer, H. Mapping a gene for 46,XY gonadal dysgenesis by linkage analysis. Clin. Genet. 63: 530-535, 2003. [PubMed: 12786760]

 Le Caignec, C., Baron, S., McElreavey, K., Joubert, M., Rival, J.-M., Mechinaud, F., David, A. 46,XY gonadal dysgenesis: evidence for autosomal dominant transmission in a large kindred. Am. J. Med. Genet. 116A: 37-43, 2003. [PubMed: 12476449]

 Nazareth, H. R. S., Moreira-Filho, C. A., Cunha, A. J. B., Vieira-Filho, J. P. B., Lengyel, A. M. J., Lima, M. C. H-Y antigen in 46,XY pure testicular dysgenesis. Am. J. Med. Genet. 3: 149-154, 1979. [PubMed: 474628]

 Ghosh, S. N., Shah, P. M., Gharpure, H. M. Absence of H-Y antigen in XY females with dysgenetic gonads. Nature 276: 180-only, 1978. [PubMed: #740033"]