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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Prog Med Genet ;9: The absence of a 45,X lineage is of importance for the management and prognosis. Gonadal dysgenesis is a defective embryonic development of the gonads. Services on Demand Journal.

Orphanet: Disgenesia gonadal pura 46 XY

Y-chromosome identification by PCR and gonadal histopathology in Turner’s syndrome without overt Y-mosaicism. Antenatal diagnosis Antenatal diagnosis is possible if a genital malformation is suspected with imaging and if a familial background exists.

Infertility is almost always present. Gondaal and related texts. With early diagnosis, surgery and hormone treatment can result in good outcome, both cosmetically and functionally. We present a case of one of the least common of these disorders, 46XY partial gonadal dysgenesis.

Although the etiology is not completely understood, 46,XY CGD results from failure of testicular disgfnesia due dixgenesia disruption of the underlying genetic pathways and several genes have been implicated: Management of patients requires a multi-disciplinary team.

All cases are sporadic. There are no large studies on the prognosis of XY partial gonadal dysgenesis regarding spontaneous puberty and fertility; on the other hand, there are also no known associations with other congenital anomalies.

Genetic counseling Although some cases of 46,XY Xxy occur sporadically, genetic counseling may be offered to affected families and should be adapted depending on the mode of inheritance associated with the genetic anomaly identified.


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Clinical description Patients present during adolescence or early adulthood with normal female external genitalia but lack pubertal development although adrenarche is normal. Persistent growth retardation led to further cytogenetic analysis 50 cells and detection of a 45,X cell line.

Autoimmune polyendocrine syndrome type 1. Show all Show less. SNIP measures contextual citation impact by wighting citations based on the total number of citations in a subject field. Depending on the mutation, patients can have adrenal insufficiency or renal involvement i.

CiteScore glnadal average citations received per document published. The Impact Factor measures the average number of citations received in a particular year by papers published in the journal during the two receding years. Mutations in SOX9, the gene responsible for campomelic dysplasia and autosomal sex reversal.

Disgenesia gonadal XY

Hibi I, Takano K, editors. Surgical reconstruction of genital status should be performed in due course. Diagnostic methods Diagnosis is made on the basis of the clinical findings together with cytogenetic analysis, endocrine investigations, molecular genetic studies, and sometimes surgical exploration with biopsy and removal of streak gonads. Check this box if you wish to receive a copy of your message.

J Clin Endocrinol Metab ; AdolescentAdult ICD Failure in gonadal development may result in extremely hypoplastic and dysfunctioning gonads mainly composed of fibrous tissue streak gonad or may lead to incomplete testicular development dysgenetic testis.

Other search option s Alphabetical list. Also, the lack of testosterone means that no dihydrotestosterone is formed and consequently the external genitalia fail to virilizeresulting in normal female genitalia.

Other gonadal tumor, maligns or not, also occur in gonadal dysgenesis. There are several forms of gonadal dysgenesis. Additional information Further information on this disease Classification s 7 Gonaxal s 9 Clinical signs and symptoms Publications in PubMed Other website gojadal 5. J Pediatr ; Antenatal diagnosis Antenatal diagnosis is possible if a genital malformation is suspected with imaging. Swyer syndromeor XY gonadal dysgenesisis a type of hypogonadism in a person whose karyotype is 46,XY.


Hormone substitution is recommended gnadal the time of puberty. Summary Epidemiology The prevalence is unknown. SRJ is a prestige metric based on the idea that not all citations are the same.

One case was reported including clinical and laboratory findings of a child of day-old infant with 1. A clinical and genetic study of campomelic dysplasia.

The same occurred with incomplete or partial gonadal dysgenesis PGD disgsnesia, which designated the existence of bilateral dysgenetic testes 4,5. Finally, if one takes into account the limitations of routine karyotype analysis in diagnosing low frequency mosaicism, it is essential to have at least 50 metaphases counted before a diagnosis of 46,XY testicular dysgenesis is performed; FISH analysis should also be performed when the patient with a 46,XY karyotype in 50 cells has characteristic features of Turner syndrome.

By using this site, you agree to the Terms of Use and Privacy Policy. Molecular mapping of the putative gonadoblastoma locus on the Y chromosome. Biopsy of the left gonad revealed a prepubertal testis. Hormone therapy in patients with female social sex is based on estrogen and progesterone for those patients where uterus is present in order to induce menses and estrogen alone in patients without a uterus.