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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Neonato con genitales ambiguos: ¿disgenesia gonadal mixta?
Only comments written in English can be processed. The clinical manifestations are highly variable, ranging from partial virilisation and ambiguous genitalia at birth to patients with a completely male or female phenotype. The most common feature of MGD is asymmetric development of testes, often with a dysgenetic testis on one side disgeneesia a streak gonad on the other.
Asymmetry idsgenesia the external and internal genitalia may also be present. Infants with male sex assignment may present with cryptorchidism, partial testicular dysgenesis, and hypospadias.
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 uterus is of variable size and the degree of differentiation of the internal genitalia varies. Short stature may be present in both sexes and patients are at increased risk of developing gonadoblastomas and dysgerminomas see these terms.
Disgenesia gonadal mixta: un caso de síndrome de Turner en mosaicismo 45,X/47,XYY.
Psychomotor development is normal. 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. All cases are sporadic. Mixt genotype-phenotype correlations have been established: Diagnosis gonacal made by cytogenetic analysis of chromosome status. 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.
Orphanet: Disgenesia gonadal mixta 45 X 46 XY
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. Surgical reconstruction of genital status should be performed in due course. Gonadectomy may be favoured in patients with a female sex assignment due to the increased risk of gonadoblastoma. In patients with male sex assignment, orchidopexy is required for fixation of the testes in the scrotum and disgenesiw may be recommended at the time of puberty.
Usually, the more dysgenetic gonad needs to be removed. Due to the increased risk of malignancy, ultrasound of the gonads should be performed on a regular basis. In some patients, the possibility of growth hormone treatment needs to be discussed if short stature is found.
Other search option s Alphabetical list. Summary and related texts. Check this box if you wish to receive a copy of your message. Summary Epidemiology Prevalence is unknown. 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.
Diagnostic methods Diagnosis is made by cytogenetic analysis of chromosome status. Antenatal diagnosis Antenatal diagnosis is possible if a genital malformation is suspected with imaging.
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.
Prognosis Clinical and psychological outcomes depend on the quality of care and level support provided.
Detailed information Professionals Summary information Greekpdf Polskipdf. Health care resources for this disease Expert centres Diagnostic tests Patient organisations 26 Orphan drug s 0. Specialised Social Services Eurordis directory. The documents contained in this web site are presented for information purposes only.
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 diagnosis or treatment.