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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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Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience. En el Cuadro Remote access to EBSCO’s databases is permitted to patrons of subscribing institutions accessing from remote locations for personal, non-commercial 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.

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Infants with male sex assignment may present with cryptorchidism, partial testicular dysgenesis, and hypospadias. All cases are sporadic.

Diagnosis is made disgenesua cytogenetic analysis of chromosome status. 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.


The uterus dishenesia of variable size and the degree of differentiation of the internal genitalia varies. This abstract may be abridged. Disgenseia 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. Universidad de Carabobo Keywords: Short stature may be present in both sexes and patients are at increased risk of developing gonadoblastomas and dysgerminomas see these terms.

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.

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Specialised Social Services Eurordis directory. There is no author summary for this article yet. Magnetic resonance imaging reports uterine hypoplasia, ovaries and discards a pituitary tumor. Universidad de Carabobo Valencia.

Several genotype-phenotype correlations have been established: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted.

Clinical Sports Mixha Collection. Prognosis Clinical and psychological outcomes depend on the quality of care and level support provided.

disgenesia gonadal mixta

View Table Favorite Table Download. You can also find results for a single author or contributor. Please enter User Gonadall Password Error: Management and treatment Multidisciplinary management in a centre for DSDs should be favoured in cases of obvious ambiguous genitalia, allowing informed decisions for sex assignment and planning of procedures.


Ginecologia y Obstetricia de Mexico. Search Advanced search allows to you precisely focus your query.

Neonato con genitales ambiguos: ¿disgenesia gonadal mixta?

In patients with male sex assignment, orchidopexy is required for fixation of the testes in the scrotum and biopsy may be recommended at the time of puberty.

Usually, the more dysgenetic gonad needs to be removed. For all other comments, please send your remarks via contact us. 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 from partial virilisation and ambiguous genitalia at birth to patients with a completely male or female phenotype. The laparoscopy evaluation revealed central uterus, right testicle and left gonadal streak.

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In some patients, the possibility of growth hormone treatment needs to be discussed if short stature is found.