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 uterus is of variable size and the degree of differentiation of the internal genitalia varies. Pop-up div Successfully Displayed This div only appears when the trigger link is hovered over.

Disgenesia gonadal mixta: un caso de síndrome de Turner en mosaicismo 45,X/47,XYY.

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Accessed December 31, Diagnosis is made by cytogenetic analysis of chromosome status. Magnetic resonance imaging reports uterine hypoplasia, ovaries and discards a pituitary tumor. However, users may print, download, or email articles for individual use.

Search within a content type, and even narrow to one or more resources. 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.


The laparoscopy evaluation revealed central uterus, right testicle and left gonadal streak. Use this site remotely Bookmark your favorite content Track your self-assessment progress and more! Summary and related texts.

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In conclusion, MGD represents a social and medical emergency due to the presence of ambiguous genitalia and the risk of future malignant transformation of the gonads.

Universidad de Carabobo Valencia. Ginecologia y Obstetricia de Mexico.

All cases are sporadic. The clinical and therapeutic management should always be interdisciplinary. The clinical manifestations are highly variable, ranging from partial virilisation and ambiguous genitalia at birth to patients with a completely male or female phenotype. Short stature may be present in both sexes and patients are at increased risk of developing gonadoblastomas and dysgerminomas see these terms.

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Other search option s Alphabetical list. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience. Health care resources for this disease Expert centres Diagnostic tests Patient organisations 26 Orphan drug s 0. En el Cuadro English Copyright of Ginecologia y Obstetricia de Mexico is the property of Federacion Mexicana de Ginecologia y Obstetricia and its mixxta may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder’s express written permission.


Search Advanced search allows to you precisely focus your query. 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. Please enter Password Forgot Username?

Neonato con genitales ambiguos: ¿disgenesia gonadal mixta?

Sign in via OpenAthens. Summary Epidemiology Prevalence is unknown. Clinical Sports Medicine Collection. 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. Antenatal diagnosis Antenatal diagnosis is possible if a genital malformation is suspected with imaging.

The most common feature of MGD is asymmetric development of testes, often disgenezia a dysgenetic testis on one side and a streak gonad on the other. For all other mixra, please send your remarks via contact us.

Several genotype-phenotype correlations have been established: This site uses cookies to provide, maintain and improve your experience. Specialised Social Services Eurordis directory. Diagnostic methods Diagnosis is made by cytogenetic analysis of chromosome gonadzl. Asymmetry of the external and internal genitalia may also be present.