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.

Author: Kagarg Akinobar
Country: Turkmenistan
Language: English (Spanish)
Genre: Marketing
Published (Last): 15 March 2008
Pages: 62
PDF File Size: 14.61 Mb
ePub File Size: 1.86 Mb
ISBN: 853-8-41094-548-2
Downloads: 35680
Price: Free* [*Free Regsitration Required]
Uploader: Shaktinos

Genetic counseling Genetic counseling may be offered.

Orphanet: Disgenesia gonadal pura 46 XY

Only comments seeking to improve visgenesia quality and accuracy of information on the Orphanet website are accepted. Inactivating FSHR mutations are inherited in an autosomal recessive manner, BMP15 mutations are inherited in an X-linked manner and NR5A1 mutations are autosomal dominant in the great majority of cases. J Mol Med ; Gonadal dysgenesis is classified as any congenital developmental disorder gonaadal the reproductive system [1] in the male or female.

A syndrome of pseudohermaphroditism, Wilms tumour, hypertension and degenerative renal disease.

AdolescentAdult ICD J Med Genet ; A review of 74 cases. Additional information Further information on this disease Classification s 7 Gene s 9 Clinical signs and symptoms Publications in PubMed Other website s 5. Congenital disorders of female genital organs Intersex and medicine. Prognosis With appropriate management, the risk of malignancy is low and the psychological and clinical outcome for patients is good.

  17PW22 4 PDF

Most of the 19 patients who formed the sample had been referred to us by the gynecology clinics Specialised Social Services Eurordis directory. Dysgerminoma in three patients with Swyer syndrome. Detailed information Professionals Summary information Greekpdf Polskipdf Review article English Clinical genetics review English Although Y-specific sequences are seldom cytogenetically evident, dysgenetic gonads are potentially prone to developing tumors.

Fluorescence in situ hybridisation analysis and ovarian histology of women with Turner syndrome presenting with Y-chromosomal material: Gonadal dysgenesis and tumors: With appropriate management, the risk of malignancy is low and the psychological and clinical outcome for patients is good. Chromosomes and the gynecologist. Am J Obstet Gynecol.

Ovarian function in Turner syndrome: Long-term follow up and comparison between genotype and phenotype in 29 cases of complete androgen insensitivity syndrome. Infertility is an important management issue; however, pregnancy may be feasible through zygote egg donation.

Gnoadal Perinatol ; Only comments written in English can be processed. Gonadla arterial hypertension was only diagnosed in the patient with 17 alpha-hydroxylase deficiency, and gonadal malignization, in dsigenesia one with XY PGD. American Journal of Medical Genetics. Other search option s Alphabetical list. Monosomy Turner syndrome 45,X.

There was a problem providing the content you requested

Abnormalities of gonadal determination and differentiation. Primary amenorrhea and XY karyotype: Disease definition 46,XY complete gonadal dysgenesis 46,XY CGD is a disorder of sex development DSD associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the gonadsl karyotype.


Other search option s Alphabetical list.

Hormone substitution is recommended at the time of puberty. Genet Couns ;2: Hong Kong Med J. Psychological support should also be offered to patients and their families. Summary and related texts.

Environmental factors maternal progesterone intake during pregnancyand impaired prenatal growth have also been associated with 46,XY CGD. Detection and incidence of cryptic Y chromosome sequences in Turner syndrome patients. Inverse correlation between natural antitumor antibodies and tumor susceptibility in individual xid-bearing mice.

Differentiation of the gonads requires a tightly regulated cascade of genetic, molecular and morphogenic events. Androgen receptor gene mutations in 46,XY females with germ cell tumours.

Prenatal diagnosis is feasible for families in which the genetic anomaly has been confirmed but is only recommended in syndromic cases.

Hum Pathol ; For all other comments, please send your remarks via contact us.