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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Neonato con genitales ambiguos: ¿disgenesia gonadal mixta?

However, users may print, download, or email articles for individual use. 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.

A year-old woman visits the University Hospital of Santander for a history of primary amenorrhea, normal female appearance, average height and weight for Colombian population, Tanner 3 breasts and external genitalia Tanner 5. Ginecologia y Obstetricia de Mexico.

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. En el Cuadro Please enter Password Forgot Username? There is no author summary for this article yet.

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Other search option s Alphabetical list. The clinical manifestations are gonadaal variable, ranging from partial virilisation and ambiguous genitalia at birth to patients with a completely male or female phenotype. No warranty is given about the accuracy of the copy.

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

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. Sign in via Shibboleth.

Prognosis Clinical and psychological outcomes depend on the quality of care and level support provided. Self URI journal page: Diagnostic methods Diagnosis is made by cytogenetic analysis of chromosome status. View Table Favorite Table Download. Pop-up div Successfully Displayed This div only appears when the trigger link is hovered over.

Summary and related texts. 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.

Term Bank – disgenesia gonadal mixta – Spanish English Dictionary

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. Usually, the more dysgenetic gonad needs to be removed. The uterus is of variable size and the degree of differentiation of the internal genitalia varies. Accessed December 31, For all other comments, please send your remarks via contact us. However, remote access to EBSCO’s databases from non-subscribing institutions is not allowed if the purpose of the use is for commercial gain through cost reduction or avoidance for a non-subscribing institution.


In some patients, the possibility of growth hormone treatment needs to be discussed if short stature is found. You can also find results for a single author or contributor. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience. View All Subscription Options. Users should refer to the original published version of the material for the full abstract.

All cases are sporadic. Antenatal diagnosis Antenatal diagnosis is possible if a genital malformation is suspected with imaging. Search within a digsenesia type, and even narrow to one or more resources.

This site uses cookies to provide, maintain and improve your experience. In patients with male sex assignment, orchidopexy is required disbenesia fixation of the testes in the scrotum and biopsy may be recommended at the time of puberty. Summary Epidemiology Prevalence is unknown.

disgenesia gonadal mixta

Universidad de Carabobo Valencia. We report the case of a female infant of 11 motnhs old referred to gynecological pediatric mixfa of the Instituto Docente de Urologia in Valencia, Carabobo showing genital ambiguity since birth. Characteristics from the physical examination, clinical and therapeutic approach, with emphasis on the laboratory diagnostic methods, laparoscopy finding and gonadal biopsy are described.