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.

Author: Taugis Faezuru
Country: Oman
Language: English (Spanish)
Genre: History
Published (Last): 20 February 2008
Pages: 299
PDF File Size: 16.79 Mb
ePub File Size: 7.91 Mb
ISBN: 281-7-67589-193-9
Downloads: 95984
Price: Free* [*Free Regsitration Required]
Uploader: Kazilmaran

disgenesia gonadal mixta

In patients with male sex assignment, orchidopexy is required for fixation of the testes in the scrotum and biopsy may be disgenesai at the time of puberty. This abstract may be abridged. Usually, the more dysgenetic gonad needs to be removed. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience. Ginecologia y Obstetricia de Mexico.

Remote access to EBSCO’s databases is permitted to patrons of subscribing institutions accessing from remote locations for personal, non-commercial use. Characteristics from the physical examination, clinical and therapeutic approach, with emphasis on the laboratory diagnostic methods, laparoscopy finding and gonadal biopsy are described. Health care resources for this disease Expert centres Diagnostic tests Patient organisations 26 Orphan drug s 0.

Specialised Social Services Eurordis directory. Sign in via Shibboleth. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted.

Other search option s Alphabetical list. Magnetic resonance imaging reports uterine hypoplasia, ovaries and discards a pituitary tumor.

Diagnostic methods Diagnosis is made by cytogenetic analysis of chromosome status.

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


En el Cuadro 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. Antenatal diagnosis Antenatal diagnosis is possible if a genital malformation is suspected with imaging. 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 gojadal listserv without the copyright holder’s express written permission.

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.

Summary Mixtaa Prevalence is unknown. 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.

View All Subscription Options. Check this box if you wish to receive a copy of your message.

This site uses cookies to provide, maintain and improve your experience. Diagnosis is made by cytogenetic analysis of chromosome status. Short stature may be present in both sexes and patients are at increased risk of developing gonadoblastomas and dysgerminomas see these terms.

Several genotype-phenotype correlations have been established: There is no author summary for this disgenesis yet.

Clinical Sports Medicine Collection. 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.

Please enter Password Forgot Username? 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.


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

Pop-up div Successfully Displayed This div only appears when the trigger link is hovered over. Due to the increased risk of malignancy, ultrasound of the gonads should be performed on a regular basis. Detailed information Professionals Summary information Greekpdf Polskipdf. 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.

In some patients, the possibility of growth hormone treatment needs to be discussed if short stature is found. Sign in via OpenAthens. Only comments written in English can be processed. The uterus is of variable size and the degree of differentiation of the internal genitalia varies. Surgical reconstruction of genital status should be performed in due course.

Otherwise it is hidden from view. 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. 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.