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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Infants with male sex assignment may present with cryptorchidism, partial testicular dysgenesis, and hypospadias.
Universidad de Carabobo Keywords: Characteristics from the physical examination, clinical and therapeutic approach, with emphasis on the laboratory diagnostic methods, laparoscopy finding and gonadal biopsy are described. However, users may print, download, or email articles for individual use. There disgennesia no author summary for this article yet. 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.
Surgical reconstruction of genital status should be performed in due course. 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 disfenesia on how to gain access to this resource from off-campus.
Summary Epidemiology Prevalence is unknown. Comment on this article Sign in to comment. Usually, the more dysgenetic gonad needs to be removed. View Table Favorite Table Download. In some patients, the possibility of growth hormone treatment needs to be discussed if short stature is found.
Disgenesia gonadal mixta: un caso de síndrome de Turner en mosaicismo 45,X/47,XYY.
Search within a content type, and even narrow to one or more resources. Please enter User Name. In conclusion, MGD represents a social and medical emergency due to the presence of ambiguous mjxta and the risk of future malignant transformation of the gonads. Ginecologia y Obstetricia de Mexico. Antenatal diagnosis Antenatal diagnosis is possible if a genital malformation is suspected with imaging.
Health care resources for this disease Expert centres Diagnostic tests Patient organisations 26 Orphan drug s 0.
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. Sign in disgenfsia Shibboleth. For all other comments, please send your remarks via contact us. The clinical and therapeutic management should always be interdisciplinary.
Term Bank – disgenesia gonadal mixta – Spanish English Dictionary
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. Prognosis Clinical and psychological outcomes depend on the quality of care and level support provided. Affiliations [ 1 ] Universidad de Carabobo.
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Psychomotor development is normal. Please enter User Name Password Error: Accessed December 31, 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.
disgenesia gonadal mixta
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.
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The laparoscopy evaluation revealed central uterus, right testicle and left gonadal streak. Diagnostic methods Diagnosis is made by cytogenetic analysis of chromosome status. All cases are sporadic. Please enter Password Forgot Username? The uterus is of variable size and the degree of differentiation of the internal genitalia varies. View All Subscription Options. Due to the increased risk of malignancy, ultrasound of the gonads should be performed on a regular basis.
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Search Advanced search allows to you precisely focus your query. Gonadectomy may be favoured in patients with a female sex assignment due to the increased risk mista gonadoblastoma.