Disease definition. 46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development. 46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the. Statistics. Original breve. Pubertad precoz periférica: disgenesia gonadal completa 46 XY. Peripheral precocious puberty: 46, XY complete gonadal dysgenesis.

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Obst Gynecol Surv ; Diagnostic methods Diagnosis is made on the basis of clinical findings with cytogenic analysis, endocrine investigations, molecular genetic studies, and sometimes surgical exploration with biopsy. There was no dysmorphic picture, and genital examination revealed a 1.

Only comments written in Gohadal can be processed. The same occurred with incomplete or partial gonadal dysgenesis PGDwhich designated the existence of bilateral dysgenetic testes 4,5. Genetic counseling Genetic counseling is mandatory. A baby who is apparently a girl is born and is normal in most anatomic respects except that the child has nonfunctional streak gonads instead of ovaries or testes. Other gonadal tumor, maligns or not, also occur in gonadal dysgenesis.

Several genotype-phenotype correlations have been established: The disenesia manifestations are highly variable, ranging from partial virilisation and ambiguous genitalia at birth to patients with a completely male or female phenotype.

Disgenesia gonadal XY

The determination of social sex should consider etiological diagnosis, penis size, ethnic traditions, sexual identity and the acceptance of assigned social sex by the parents.

The most common feature of MGD is asymmetric development of testes, often with a ggonadal testis on one side and a streak gonad on the other. We report the case of a year-old adult with ambiguous external genitalia, who had never been studied or treated, but who was labelled as a hermaphrodite in the country of origin. SJR uses a similar algorithm as the Google page rank; it provides a quantitative and qualitative measure of the journal’s impact.


The degree of genital ambiguity varies along a spectrum, ranging from an almost female phenotype with clitoromegaly at one gonada, to an almost male phenotype with isolated hypospadias at the other. We report on a child with sex ambiguity whose initial diagnosis was 46,XY PGD, and whose prognosis changed significantly after detection of a 45,X cell line.

Disgenesia gonadal XY – Wikipédia, a enciclopédia livre

Donor splice-site mutations in WT1 are responsible for Fraiser syndrome. Gonadal dysgenesis is a defective embryonic development of the gonads. Clinical and pathologic risgenesia of 46,XY gonadal dysgenesis: G-banding karyotype in 16 cells revealed a 46,XY karyotype. In some patients, the possibility of growth hormone treatment needs to be discussed if short stature is found.

Check this box if you wish to receive a copy of your message. As girls’ ovaries normally produce no important body changes before pubertya defect of the reproductive system typically remains unsuspected until puberty fails to occur in people with Swyer syndrome. Early manifestations of testicular dysgenesis in children: Management of patients requires a multi-disciplinary team. Bilateral gonadectomy should be performed before puberty to avoid degeneration of dysgenetic tissue in patients reared as females due to the relatively high risk of gonadal malignancy.

Swyer syndrome represents one phenotypic result of a failure of the gonads to develop properly, and hence is part of a class of conditions termed gonadal dysgenesis. Genetic counseling Although some cases of 46,XY CGD occur sporadically, genetic counseling may be offered to affected families and should be adapted depending on the mode of disgeneeia associated with the genetic anomaly identified.

Orphanet: Disgenesia gonadal XY XO

The distribution of chromosomal genotypes associated with Turner syndrome: Dysgenesis gonadal type XY. The uterus is of variable size and the degree of differentiation of the internal genitalia varies. Although the histological picture of testis and streak gonad may occur in individuals with a homogeneous 46,XY karyotype, the finding of pre-and postnatal growth retardation in this case led to chromosome analysis of a larger number of cells and detection of a 45,X cell line.


Semin Diag Pathol ;4: A forma com surdez foi descrita por Perrault e col. A variety of hermaphroditism. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a disfenesia for diagnosis or treatment.

Disgenesia gonadal parcial XY. Other search option s Alphabetical list. Y-chromosome identification by PCR and gonadal histopathology in Turner’s syndrome without overt Y-mosaicism.

This page was last edited on 7 Octoberat Medicine Baltimore ; For the lung condition, see Swyer—James syndrome. CiteScore measures average citations received per document published. Many patients present ambiguous genitalia or severe micropenis associated with complete regression of testicular tissue in one or both sides. Diagnosis is made by cytogenetic analysis of chromosome status.

Molecular mapping of the putative gonadoblastoma locus on the Y chromosome.

Additional information Further information on this disease Classification s 7 Gene s 9 Clinical signs and symptoms Publications in PubMed Other website s 5. The histological picture of a dysgenetic testis ranges from a gonad with predominance of fibrous tissue and a few tubular structures to only gobadal reduction in tubular size and reduced number of germ cells. Prognosis With appropriate management, the risk of malignancy is low and the psychological and clinical outcome for patients is good.

As the adrenal glands can make limited amounts of androgens and are not affected by this syndrome, most of these persons will develop pubic hair, though it often remains sparse. Inverse correlation between natural antitumor antibodies and tumor susceptibility in individual xid-bearing mice.