The Y-chromosome-located SRY gene encodes a small testis-specific protein containing a DNA- -binding motif known as the HMG (high mobility group) box. However, mutations in SRY are not frequent especially in cases of 46,XY partial gonadal dysgenesis. Several sex-determining genes direct the fate of the bipotential gonad to either testis or ovary. In addition, heterozygous small deletions in 9p can cause complete and partial XY gonadal dysgenesis without other symptoms. Human DMRT1 gene, which is located at 9p24.3, is expressed in testis and ovary and has been considered, among others, a candidate autosomal gene responsible for gonadal dysgenesis. In this report we describe a nucleotide insertion in DMRT1 3'UTR in a patient of XY partial gonadal dygenesis. The 3'UTR+11insT is located within a conserved motif important for mRNA stabilization. © ABE&M todos os direitos reservados.548749753Hughes, I.A., Disorders of sex development: A new definition and classification (2008) Best Pract Res Clin Endocrinol Metab, 22, pp. 119-134Andrade, J.G., Guerra-Júnior, G., Maciel-Guerra, A.T., 46,XY and 45,X/46,XY testicular dysgenesis: Similar gonadal and genital phenotype, different prognosis (2010) Arq Bras Endocrinol Metabol, 54, pp. 331-334Michala, L., Goswami, D., Creighton, S.M., Conway, G.S., Swyer syndrome: Presentation and outcomes (2008) BJOG, 115, pp. 737-741Ribeiro-Scolfaro, M., Cardinalli, I.A., Stuchi-Perez, E.G., de Mello, M.P., Assumpção, J.G., Baptista, M.T.M., Morphometry and histology of gonads from 13 children with dysgenetic male pseudohermaphroditism (2001) Arch Pathol Lab Med, 125, pp. 652-656Berta, P., Hawkins, J.R., Sinclair, A.H., Taylor, A., Griffiths, B.L., Goodfellow, P.N., Genetic evidence equating SRY and the testis- -determining factor (1990) Nature, 348, pp. 448-450Knower, K.C., Kelly, S., Harley, V.R., Turning on the male-SRY, SOX9 and sex determination in mammals (2003) Cytogenet Genome Res, 101, pp. 185-198Tagliarini, E.B., Assumpção, J.G., Scolfaro, M.R., Mello, M.P., Maciel-Guerra, A.T., Guerra, G., Mutations in SRY and WT1 genes required for gonadal development are not responsible for XY partial gonadal dysgenesis (2005) Braz J Med Biol Res, 38, pp. 17-25Biason-Lauber, A., Control of sex development (2010) Best Pract Res Clin Endocrinol Metab, 24 (2), pp. 163-186Veitia, R.A., Nunes, M., Quintana-Murci, L., Rappaport, R., Thibaud, E., Jaubert, F., Swyer syndrome and 46,XY partial gonadal dysgenesis associated with 9p deletions in the absence of monosomy- 9p syndrome (1998) Am J Hum Genet, 63, pp. 901-905Calvari, V., Bertini, V., de Grandi, A., Peverali, G., Zuffardi, O., Ferguson-Smith, M., A new submicroscopic deletion that refines the 9p region of sex reversal (2000) Genomics, 65, pp. 203-212Raymond, C.S., Shamu, C.E., Shen, M.M., Seifert, K.J., Hisch, B., Hodgkin, J., Evidence for evolutionary conservation of sex-determining genes (1998) Nature, 391, pp. 691-694Pask, A.J., Behringer, R.R., Renfree, M.B., Expression of DMRT1 in the mammalian ovary and testis--from marsupials to mice (2003) Cytogenet Genome Res, 101, pp. 229-236Raymond, C.S., Parker, E.D., Kettlewell, J.R., Brown, L.G., Page, D.C., Kusz, K., A region of human chromosome 9p required for testis development contains two genes related to known sexual regulators (1999) Hum Mol Genet, 8, pp. 989-996Furlong, R.A., Lyall, J.E., Lush, M.J., Affara, N.A., Ferguson-Smith, M.A., Four dinucleotide repeat polymorphisms on chromosome 9 (D9S143-146) (1992) Hum Mol Genet, 1, p. 447Cheng, H.H., Ying, M., Tian, Y.H., Guo, Y., McElreavey, K., Zhou, J.R., Transcriptional diversity of DMRT1 (dsx- and mab3-related transcription factor 1) in human testis (2006) Cell Res, 16, pp. 389-393Lu, H., Xiao, H., Liao, Z., Yiqing, G., Hanhua, C., Rongjia, Z., Multiple alternative splicing of mouse Dmrt1 during gonadal differentiation (2007) Biochem Biophys Res Commun, 352, pp. 630-634Smith, P.J., Zhang, C., Wang, J., Chew, S.L., Zhang, M.Q., Krainer, A.R., An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers (2006) Hum Mol Genet, 15, pp. 2490-2508Cartegni, L., Wang, J., Zhu, Z., Zhang, M.Q., Krainer, A.R., ESEfinder: A web resource to identify exonic splicing enhancers (2003) Nucleic Acid Res, 31, pp. 3568-3571Zhang, X.H., Chasin, L.A., Computational definition of sequence motifs governing constitutive exon splicing (2004) Genes Dev, 18, pp. 1241-1250Zhang, X.H., Kangsamaksin, T., Chao, M.S., Banerjee, J.K., Chasin, L.A., Exon inclusion is dependent on predictable exonic splicing enhancers (2005) Mol Cell Biol, 25, pp. 7323-7332Herpin, A., Nakamura, S., Wagner, T.U., Tanaka, M., Schartl, M., A highly conserved cis-regulatory motif directs differential gonadal synexpression of Dmrt1 transcripts during gonad development (2009) Nucleic Acids Res, 37, pp. 1510-1520