Gonadal dysgenesis is classified as any congenital developmental disorder of the reproductive system in the male or female. It is the defective development of. English Spanish online dictionary Term Bank, translate words and terms with different pronunciation options. El síndrome de Swyer-James es un desorden de los cromosomas sexuales y la diferenciación sexual caracterizado por una disgenesia gonadal pura 46 XY en.

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Additional information Further information on this disease Classification s 7 Gene s 9 Clinical signs and symptoms Publications in PubMed Other website s 5. SRY gene deletion of or loss-of-function mutations; Yp Journal of Pediatric Surgery. Neoplasia associated with anomalous sexual development and abnormal sex chromosomes. All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License.

AdolescentAdult ICD Clinical and pathologic spectrum of 46,XY gonadal diisgenesia American Journal of Medical Genetics. The documents contained in this web site are presented for information purposes only.


Genet Couns ; A syndrome of pseudohermaphroditism, Wilms tumour, hypertension and degenerative renal disease. Biology of Sex Differences.

Primary amenorrhea and XY karyotype: identifying patients in risk

Mutations in SOX9, the gene responsible for campomelic dysplasia and autosomal sex reversal. A variety of hermaphroditism. Molecular analysis in Turner syndrome. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted.

Disgenesia gonadal XY

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. Semin Diag Pathol ;4: Nat Genet ; This section is empty. Views Read Edit View history.

For all other comments, please send your remarks via contact us. Male pseudohermaphroditism caused by alpha-hydroxylase deficiency.

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Farlex Partner Medical Dictionary”. Detection and incidence of cryptic Y chromosome sequences in Turner syndrome patients.

Hong Kong Med J. Observam-se, ainda, outras anomalias, como: Prenatal diagnosis is feasible for families in which the genetic anomaly has been confirmed but is only recommended in syndromic cases. All the cases were analyzed by the caryotype by GTG bands. J Clin Endocrinol Metab ; Disease definition 46,XX gonadal dysgenesis 46,XX GD is a primary ovarian defect leading to premature ovarian failure POF; see this term in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation.


Health care resources for this disease Expert centres Diagnostic tests 39 Patient organisations 25 Orphan drug s 0.

Psychological support should also be offered to patients and their families. Primary amenorrhea and XY karyotype: Urol Clin North Am ;