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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Universidad de Carabobo Valencia.
disgenesia gonadal mixta
In conclusion, MGD represents a social and medical emergency due to the presence of ambiguous genitalia and the risk of future malignant transformation of the gonads.
Characteristics from the physical examination, clinical and therapeutic approach, with emphasis on the laboratory disgeneaia methods, laparoscopy finding and gonadal biopsy are described. En el Cuadro Pop-up div Successfully Displayed This div only appears when the trigger link is hovered over. The laparoscopy evaluation revealed central uterus, right testicle and left gonadal streak. Only comments written in English can be processed.
Disgenesia gonadal mixta – ScienceOpen
Search within a content type, and even narrow to one or more resources. 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.
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The clinical and therapeutic management should always be interdisciplinary. View All Subscription Options. Infants with male sex assignment may present with cryptorchidism, partial testicular dysgenesis, and hypospadias.
Disgenesia gonadal mixta: un caso de síndrome de Turner en mosaicismo 45,X/47,XYY.
A year-old woman visits the University Hospital of Santander for a history of primary amenorrhea, normal female appearance, average height and weight mixha Colombian population, Tanner 3 breasts and external genitalia Tanner 5.
Diagnosis is made by cytogenetic analysis of chromosome status. Summary and related texts. Summary Epidemiology Prevalence is unknown. Clinical Sports Medicine Collection.
Ginecologia y Obstetricia de Mexico. Karyotype analysis may be conducted prenatally after amniocentesis or chorionic villus sampling, postnatally in patients with ambiguous genitalia, or disenesia in life in patients with fertility problems. Read this article at SciELO. However, remote access to EBSCO’s databases from non-subscribing institutions is not allowed if the purpose of the use is for commercial gain through cost reduction or avoidance for a non-subscribing institution.
Health care resources for this disease Expert centres Diagnostic tests Patient organisations 26 Orphan drug s 0. 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.
Usually, the more dysgenetic gonad needs to be removed. Asymmetry of the external and internal genitalia may also be present. Please enter User Name Password Error: Affiliations [ 1 ] Universidad de Carabobo.
Term Bank – disgenesia gonadal mixta – Spanish English Dictionary
In some patients, the possibility of growth hormone treatment needs to be discussed if short stature is found. 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.
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. However, users may print, download, or email articles for individual use. 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. There is no author summary for this article yet. Specialised Social Services Eurordis directory. Comment on this article Sign in to comment.
Due to the increased risk gonaadal malignancy, ultrasound of the gonads should be performed on a regular basis. Short stature may be present in both sexes and patients are at increased risk of developing gonadoblastomas and dysgerminomas see these terms.
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