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.

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Summary Epidemiology Prevalence is unknown.

Specialised Social Services Eurordis directory. Use this site remotely Bookmark your favorite content Track your self-assessment progress and more! Prognosis Clinical and psychological outcomes depend on the quality of care and level support provided.

Check this box if you wish to receive a copy of your message. Characteristics from mixa physical examination, clinical and therapeutic approach, with emphasis on the laboratory diagnostic methods, laparoscopy finding and gonadal biopsy are described.

Search within a content type, and even narrow to one or more resources. Diagnostic methods Diagnosis is made by cytogenetic analysis of chromosome status. Authors can add summaries to their mista on ScienceOpen to make them more accessible to a non-specialist audience. The clinical manifestations are highly variable, ranging from partial virilisation and ambiguous genitalia at birth to patients with a completely male or female phenotype.


Users should refer to the original published version of the material for the full abstract.

Only comments written in English can be processed. In patients with male sex assignment, orchidopexy is mkxta for fixation of the testes in the scrotum and biopsy may be recommended at the time of puberty. Health care resources for this disease Expert centres Diagnostic tests Patient organisations 26 Orphan drug s 0.

disgenesia gonadal mixta

Self URI journal page: Diagnosis is made by cytogenetic analysis of chromosome status. The laparoscopy evaluation revealed central uterus, right testicle and left gonadal streak. Detailed information Professionals Summary information Greekpdf Polskipdf.

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Antenatal diagnosis Antenatal diagnosis is possible if a genital malformation is suspected with imaging. Magnetic resonance imaging reports uterine hypoplasia, ovaries and discards a pituitary tumor.

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

Infants with female sex assignment present with varying degrees of virilization and may show manifestations of other clinical features of Vonadal syndrome see this term.

Summary and related texts. View All Subscription Options. In conclusion, MGD represents a social and medical emergency disgeenesia to the presence of ambiguous genitalia and the mjxta of future malignant transformation of the gonads.

Psychomotor development is normal.

Disgenesia gonadal mixta – ScienceOpen

Surgical reconstruction of genital status should be performed in due course. Due disgenseia the increased risk of malignancy, ultrasound of the gonads should be performed on a regular basis. View Table Favorite Table Download. En el Cuadro Gonaal can also find results for a single author or contributor.


Search Advanced search allows to you precisely focus your query. 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 via OpenAthens.

Infants with male sex assignment may present with cryptorchidism, partial testicular dysgenesis, mixga hypospadias. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for gonaxal or treatment.

The clinical and therapeutic management should always be interdisciplinary. No warranty is given about the accuracy of the copy. This abstract may be abridged. This site uses cookies to provide, maintain and improve your experience.

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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. Disgenesiz December 31, Clinical Sports Medicine Collection.

Ginecologia y Obstetricia de Mexico. Universidad de Carabobo Valencia. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted.

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