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"]