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 laparoscopy evaluation revealed central uterus, right testicle and left gonadal streak. Universidad de Carabobo Keywords: Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience. 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 gain access to this resource from off-campus.

Disgenesia gonadal mixta – ScienceOpen

In conclusion, MGD represents a social muxta medical emergency due to the presence of ambiguous genitalia and the risk of future malignant transformation of the gonads. Only comments written in English can be processed. Magnetic resonance imaging reports uterine hypoplasia, ovaries and discards a pituitary tumor. Diagnosis is made by cytogenetic analysis of chromosome status.

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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 digsenesia. View All Subscription Options.

Please enter User Name Password Error: Accessed December 31, 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 clinical and therapeutic management should always be interdisciplinary.

Disgneesia 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.

Usually, the more dysgenetic gonad needs to be removed.

Sign in via OpenAthens. Gonadectomy may be favoured in patients with a female sex assignment due to the increased risk of gonadoblastoma. In some patients, the possibility of growth hormone treatment needs to be discussed if short stature is found. Psychomotor development is normal. Specialised Social Services Eurordis directory.

Neonato con genitales ambiguos: ¿disgenesia gonadal mixta?

There is no author summary for this article yet. Affiliations [ 1 ] Universidad de Carabobo. Please enter Password Forgot Username? The material is in no way intended to replace professional medical care by a qualified specialist and should not mixtz used as a basis for diagnosis or treatment.

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Summary Epidemiology Prevalence is unknown. We report the case of a female infant of 11 motnhs old referred to gynecological pediatric consult of disgeneaia Instituto Docente de Urologia in Valencia, Carabobo showing genital ambiguity since birth.

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

This abstract may be abridged. Summary and related texts.

You can also find results for a single author or contributor. En el Cuadro Please enter User Name. The uterus is of variable size and the degree of differentiation of the internal genitalia varies.

disgenesia gonadal mixta

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. Search within a content type, and even narrow to one or more resources. Due to the increased risk of malignancy, ultrasound of the gonads should be performed on a regular basis.

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.