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

Search Advanced search allows to you precisely focus your query. Diagnosis is made by cytogenetic analysis of chromosome status. 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 gonadzl.

This abstract may be abridged. Users should refer dizgenesia the original published version of the material for the full abstract.

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.

Antenatal diagnosis Antenatal diagnosis is possible if a genital malformation is suspected with imaging. Summary Epidemiology Prevalence is unknown. Self URI journal page: However, users may print, download, or email articles for individual use.

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The documents contained in this web site are presented for information purposes only. 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. Characteristics from the physical examination, clinical and therapeutic approach, with emphasis on the laboratory diagnostic methods, laparoscopy finding and gonadal biopsy are described.

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Pop-up div Successfully Displayed This div only appears when the trigger link is hovered over. Sign in via OpenAthens. Short stature may be present in both sexes and patients are at increased risk of developing gonadoblastomas and dysgerminomas see these terms. Read this article at SciELO.

This site uses cookies to provide, maintain and improve your experience. Usually, the more dysgenetic gonad needs to be removed. Magnetic resonance imaging reports uterine hypoplasia, ovaries and discards a pituitary tumor.

disgenesia gonadal mixta

Universidad de Carabobo Keywords: Health care resources for this disease Expert centres Diagnostic tests Patient organisations 26 Orphan drug s 0. 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.

View All Subscription Options. We report the case of a 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.

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Infants with male sex assignment may present with cryptorchidism, partial testicular dysgenesis, and hypospadias. Affiliations [ 1 ] Universidad de Carabobo.

Otherwise it is hidden from view. Gobadal el Cuadro 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. Surgical reconstruction of genital status should be performed in due course. Prognosis Clinical and psychological outcomes depend on the quality of care and level support provided.

Due to the increased risk of malignancy, ultrasound of the gonads should be performed disgensia a regular basis. It should be diagnosed early due to risk of malignant transformation of gonads by the presence of Y chromosome in cell mixtx of the affected patiens. There is no author summary for disgenesoa article yet. Only comments written in English can be processed.

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The uterus is of variable size and the degree of differentiation of the internal genitalia varies.

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The clinical and therapeutic management should always be interdisciplinary. Use this site remotely Bookmark your favorite content Track your self-assessment progress and more!

Gonadectomy may be favoured in patients with a female sex assignment due to the increased risk of gonadoblastoma. Universidad de Carabobo Valencia. The most common feature of MGD is asymmetric development of testes, often with a dysgenetic testis on one side and a gonaadal gonad on the other.

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

View Table Favorite Table Download. Ginecologia y Obstetricia de Mexico. All cases are sporadic. Asymmetry of the external and internal genitalia may also be present. 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.

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