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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Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience. Gonadectomy may be favoured in patients with a female sex assignment due to the increased risk of gonadoblastoma. Only comments written in English can be processed.
However, users may print, download, or email articles for individual use. Please enter User Name. Self URI journal page: 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.
Use this site remotely Bookmark your favorite content Track your self-assessment progress and more! Accessed December 31, Universidad de Carabobo Valencia. 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. 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.
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Diagnosis is made by cytogenetic analysis of chromosome status. Summary Epidemiology Prevalence is unknown. Psychomotor development is normal.
In some patients, the possibility of growth hormone treatment needs to be discussed if short stature is found. En el Cuadro 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.
Multidisciplinary management in gobadal centre for DSDs should be favoured in cases of obvious ambiguous genitalia, allowing informed decisions for sex assignment and planning of procedures.
Affiliations [ 1 ] Universidad de Carabobo. Magnetic resonance imaging reports cisgenesia hypoplasia, ovaries and discards a pituitary tumor. Otherwise it is hidden from view.
Disgenesia gonadal mixta: un caso de síndrome de Turner en mosaicismo 45,X/47,XYY.
The uterus is of variable size and the degree of differentiation of the internal genitalia varies. The documents contained in this web site are presented for information purposes only.
All cases are sporadic. Search Advanced search allows to you precisely focus your query. About MyAccess If your institution subscribes to this resource, and you don’t have diwgenesia MyAccess Profile, please contact your library’s reference desk for information on how to gain access to this resource from off-campus. Sign in via OpenAthens. Diagnostic methods Diagnosis is made by cytogenetic analysis of chromosome status.
The clinical and therapeutic management should always be interdisciplinary. 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.
For all other comments, please send your remarks via contact us. It should be diagnosed early due to risk mizta malignant transformation of gonads by the presence of Y chromosome in cell lines of the affected patiens. There is no author disgnesia for this article yet. View All Subscription Options.
Disgenesia gonadal mixta con fórmula cromosómica 45,X/46,X, (mar). Presentación de una paciente
Summary and related texts. Antenatal diagnosis Antenatal diagnosis is possible if a genital malformation is suspected with imaging. Infants with male sex assignment may present with cryptorchidism, partial testicular dysgenesis, and hypospadias.
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. Health care resources for this disease Expert centres Diagnostic tests Patient organisations 26 Orphan drug s 0. Surgical reconstruction of genital status should be performed in due course.
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Disgenesia gonadal mixta – ScienceOpen
You can also find results for a single author or contributor. 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. 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.
The clinical manifestations are highly variable, ranging from partial virilisation and ambiguous genitalia at birth to patients with a completely male or female phenotype. Comment on this article Sign in to comment. View Table Favorite Table Download.
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.