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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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.

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.

Short stature may be present in both sexes and patients are gonaval increased risk of developing gonadoblastomas and dysgerminomas see these terms.

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disgenesia gonadal mixta

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. The laparoscopy evaluation revealed central uterus, right testicle and left gonadal streak.


We report the case of mixat female infant of 11 motnhs old referred to gynecological pediatric consult of the Instituto Docente de Urologia in Valencia, Carabobo showing genital ambiguity since birth.

View All Subscription Options. Summary Epidemiology Prevalence is unknown. Affiliations [ 1 ] Universidad de Carabobo. Disgenewia some patients, the possibility of growth hormone treatment needs to be discussed if short stature is found. 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.

Diagnosis is made by cytogenetic analysis of chromosome status. Read this article at SciELO. Diagnostic methods Diagnosis is made by cytogenetic analysis of chromosome status.

Universidad de Carabobo Valencia. The material is in no way intended to replace professional gnoadal care by a qualified specialist and should not disgehesia used as a basis for diagnosis or treatment.

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All cases are sporadic. Search within a content type, and even narrow to one or more resources. Infants with female sex assignment present with varying degrees of virilization and may show manifestations of other clinical micta of Turner syndrome see this term. Only comments written in English can be processed. Usually, the more dysgenetic gonad needs to be removed.


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

Universidad de Carabobo Keywords: Accessed December 31, The documents contained in this web site are presented for information purposes only.

Mixt on this article Sign in to comment. En el Cuadro Magnetic resonance imaging reports uterine hypoplasia, ovaries and discards a pituitary tumor. 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. 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 is of variable size and the degree of differentiation of the internal genitalia varies.

Disgenesia gonadal mixta con fórmula cromosómica 45,X/46,X, (mar). Presentación de una paciente

For all other comments, please send your remarks via contact us. Several genotype-phenotype correlations have been established: 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.

Asymmetry of the external and internal genitalia may also be present.

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