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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XY gonadal dysgenesis

Hook EB, Warburton D. 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. The chromosome complement, 46,XX or 46,XY, is shown in karyotype, which may also ginadal numeric and structural chromosome abnormalities.

The early stages of testicular formation in the second month of gestation requires the action of several genesof which one of the earliest and most important is SRYthe sex-determining region of the Y chromosome. Specialised Social Services Eurordis directory. Syndromic forms of 46,XY PGD have been associated with WT-1 mutations, which lead to variable testicular dysgenesis and an increased risk of renal abnormalities, namely Wilms tumors or nephrotic syndrome.


XY gonadal dysgenesis – Wikipedia

After three injections of testosterone enanthate 50 mg over successive monthsphallus size increased to 3 cm and a second urethral opening with urinary flow was detected on the glans.

Advances in pathology of intersex conditions. Psychomotor development is normal. We present a case of one of the least common of these disorders, 46XY partial gonadal dysgenesis.

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. Wilms tumors or nephrotic syndrome.

Feingold syndrome Saethre—Chotzen syndrome.

J Clin Endocrinol Metab. A review of 74 cases.

Orphanet: Disgenesia gonadal pura 46 XY

Summary Epidemiology Prevalence is unknown. Cytogenet Cell Genet ; Pathology of the testis in intersex disorders. Health care resources for this disease Expert centres Diagnostic tests Patient organisations 21 Orphan drug s 0. Retrieved from ” https: This item has received. Arch Fr Pediatr ; In this case, as the child had normal LH, FSH and testosterone levels, a testis in the scrotal fold and good response to testosterone injections, he had a male sex assignment.

The term mixed gonadal dysgenesis MGD was initially used in a histological context, referring to the finding of a dysgenetic testis associated with a streak gonad.

Diagnosis is made by cytogenetic analysis of chromosome status. 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. Screening for specific conditions associated with Turner syndrome revealed no cardiovascular abnormalities, and there were also normal serum thyrotropin and free-tetraiodothyronin levels.


Environmental factors maternal progesterone intake during pregnancyand impaired prenatal growth have also been associated with 46,XY CGD. Autoimmune lymphoproliferative syndrome 1B. J Pediatr Rio ; The absence of a 45,X lineage is of importance for the management and prognosis.

SRJ is a prestige metric based on the idea that not all citations are the same. Molecular mapping of the putative gonadoblastoma locus on the Y chromosome. Views Read Edit View history. J Mol Med ; Gonadoblastoma, a mixed germ cell and sex-cord cells tumor with variable degree of focal calcification, is disgenssia most harmful due to its frequency.

Gonadal dysgenesis is a defective embryonic development of the gonads. They appear to be normal girls and are generally considered so.