Download Citation on ResearchGate | Disgenesia gonadal mixta como forma de presentación de un desorden de la diferenciación sexual de causa. Diagnóstico diferencial con disgenesia gonadal mixta | Se presenta el caso de una paciente de 14 años y 8 meses, referida a la consulta por presentar. Title: Disgenesia gonadal mixta: un caso de síndrome de Turner en mosaicismo 45,X/47,XYY. (Spanish); Alternate Title: Mixed gonadal dysgenesis, a case of.
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The clinical and therapeutic management should always be interdisciplinary. Several genotype-phenotype correlations have been established: Sign in via Shibboleth. All cases are sporadic. Diagnostic methods Diagnosis is made by cytogenetic analysis of chromosome status.
Disgenesia gonadal mixta: un caso de síndrome de Turner en mosaicismo 45,X/47,XYY.
Self URI journal page: The most common feature of MGD is asymmetric development of testes, often with a dysgenetic testis on one side and a streak gonad on the other. The presence of 45,X cell lines is frequently associated with Y chromosome rearrangements commonly dicentric and ring Y chromosomeswhich may also have an impact on the phenotype. There is no author summary for this article yet.
Infants with male sex assignment may present with cryptorchidism, partial testicular dysgenesis, and hypospadias. Health care resources for this disease Expert centres Diagnostic tests Patient organisations 26 Orphan drug s 0. View Table Favorite Table Download. Affiliations [ 1 ] Universidad de Carabobo. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
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Please enter Password Forgot Username? Accessed December 31, Clinical Sports Medicine Collection. Summary and related texts. Magnetic resonance imaging reports uterine hypoplasia, ovaries and discards gonada, pituitary tumor. Summary Epidemiology Prevalence is unknown. Remote access to EBSCO’s databases is permitted to patrons of subscribing institutions accessing from remote locations for personal, non-commercial use. Pop-up div Successfully Displayed This div only appears when the trigger link is hovered over.
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View All Subscription Options. Infants with female sex assignment present with varying degrees of virilization and may show manifestations of other clinical features of Turner syndrome see this term. Use this site remotely Bookmark your favorite content Track your self-assessment progress and more!
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Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. However, users may print, download, or email articles for individual use. Karyotype analysis may be conducted prenatally after amniocentesis or chorionic villus sampling, postnatally in patients with ambiguous genitalia, or later in life in patients with fertility problems. Specialised Social Services Eurordis directory.
Universidad de Carabobo Keywords: Prognosis Clinical and psychological outcomes depend on the quality of care and level support provided. About MyAccess If your institution subscribes to this resource, and you don’t have a MyAccess Profile, please contact your library’s reference desk for information on how to mmixta access to this resource from off-campus.
Clinical description The clinical manifestations are highly variable, ranging from partial virilisation and ambiguous genitalia at birth to patients with a completely male or female phenotype.
Psychomotor development is normal. If your institution subscribes to this resource, and you don’t have a MyAccess Profile, please contact your library’s reference desk for information on how to gain access to this resource from off-campus. Usually, the more dysgenetic gonad needs to be removed. No warranty is given about the accuracy distenesia the copy. It should be diagnosed early due to risk of malignant transformation of gonads by the presence of Y chromosome in cell lines of the affected patiens.
Search Advanced search allows to you precisely focus your query. Short stature may be present in both sexes and patients are at increased risk of developing gonadoblastomas and dysgerminomas see these terms.
Due to the increased risk of malignancy, ultrasound of the gonads should be performed on a regular basis. Other search option s Alphabetical list. English Copyright of Ginecologia y Obstetricia de Mexico is the property of Federacion Mexicana de Ginecologia y Obstetricia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder’s express written permission.
The clinical manifestations are highly variable, ranging gojadal partial virilisation and ambiguous genitalia at birth to patients with a completely male or female phenotype. Multidisciplinary management in a centre for DSDs should be favoured in cases dsgenesia obvious ambiguous genitalia, disgdnesia informed decisions for sex assignment and planning of procedures.
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