The aetiology of 46,XY gonadal dysgenesis can be caused by mutations in the genes involved in testis. 17 nov. Destas, 21 (20,2%) apresentavam uma constituição 46,XY. Cinco pacientes ( 26,3%) apresentavam disgenesia gonadal pura XY (DGP XY). El síndrome de Swyer es una disgenesia gonadal pura, con cariotipo 46XY, fenotipo femenino normal, y ausencia completa de tejido gonadal funcionante, que.

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The internal and external genitalia are normally developed.

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EmTsuchiya e cols. Results and Problems in Cell Differentiation. Clinical, hormonal, behavioral, and genetic characteristics disgfnesia androgen insensitivity syndrome in a Brazilian cohort: Disorders of Sexual Differentiation and Puberty in the Male”.

The etiology in 77 primary amenorrhea patients. Segundo Lippe e cols. AdolescentAdult ICD Elsevier Science Publishers; Disgenesias gonadais e tumores: Hum Pathol ; Universidad de Antioquia, Colombia: Services on Demand Article.

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Primary amenorrhea and XY karyotype: identifying patients in risk

International Journal of Pediatric Endocrinology. Only comments written in English can be processed.

Clin Endocrinol ; Livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism. Minute Y chromosome derived marker in a child with gonadoblastoma: Spanish pdf Article in xml format Article references How to cite this article Automatic translation Send this article by e-mail.

Current evaluation of amenorrhea. Alterations in the hypothalamic paraventricular nucleus and its oxytocin neurons putative satiety cells in Prader-Willi syndrome: Mixed gonadal dysgenesis is poorly understood at the molecular level.

Pediatr Adolesc Endocrinol ;8: It is believed that this fact is related to the way patients are usually referred to our service. Gonadal dysgenesis is classified as any congenital developmental disorder of the reproductive system [1] in the male or female.

Disgenesia gonadal XY

It is thus important that this problem is specifically diagnosed to enable a suitable therapeutic approach to be adopted for minimising the consequences of this disease. From Wikipedia, the free encyclopedia.


This information was classified to support this review by making summaries for analysis. EmHanson e cols.

Intestinal invasion by a dysgerminoma in a patient with Swyer syndrome. Gonadal tumors in disorders of sexual differentiation.

Hong Kong Med J.

Orphanet: Disgenesia gonadal pura 46 XX

Associated findings occur gonadql Disorders of genomic imprinting. Deletions of chromosome 15 as a cause of the Prader-Willi syndrome.

Biology of Sex Differences. The pregnancy outcome of Turner syndrome: Medicine Baltimore ; Cytogenetic analysis of patients with primary and secondary amenorrhoea in Hong Kong: Environmental factors maternal progesterone intake during pregnancyand impaired prenatal growth have also been associated with 46,XY CGD. Phenotypic Female External Genitalia. Although Y-specific sequences are seldom cytogenetically evident, dysgenetic gonads are potentially prone to developing tumors.