DISGENESIA GONADAL PURA 46 XY PDF

The aetiology of 46,XY gonadal dysgenesis can be caused by mutations in the genes involved in testis. 17 nov. Destas, 21 (20,2%) apresentavam uma constituição 46,XY. Cinco pacientes ( 26,3%) apresentavam disgenesia gonadal pura XY (DGP XY). El síndrome de Swyer es una disgenesia gonadal pura, con cariotipo 46XY, fenotipo femenino normal, y ausencia completa de tejido gonadal funcionante, que.

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Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, xisgenesia send your remarks via contact us.

diwgenesia Only comments written in English can be processed. Patients present during adolescence or early adulthood with normal female external genitalia but lack pubertal development although adrenarche is normal. Completely undeveloped streak gonads are present and are associated with an increased risk of abdominal tumours most commonly dysgerminoma; see this termwhich may disbenesia the presenting feature in some cases.

Stature is normal or above normal, and features of Turner syndrome see this term are absent.

Disgenesia gonadal XY

Although the etiology is not completely understood, 46,XY CGD results from failure of testicular development due to disruption of the underlying genetic pathways and several genes have been implicated: SRY gene deletion of or loss-of-function mutations; Yp Mutations in the CBX2 gene have been rarely reported, namely in a gonaadal with development of prua tissue despite 46,XY karyotype.

Disgenesix in the MAP3K1 gene mapped on chromosome 5q that cause downstream alterations in the MAP kinase signaling pathway have recently been identified in two familial and two sporadic cases. Environmental factors maternal progesterone intake during pregnancyand impaired prenatal growth have also been associated with 46,XY CGD. 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.

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Prenatal diagnosis is feasible for families in which the genetic anomaly has diisgenesia confirmed but is only recommended in syndromic cases. 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 inheritance associated with the genetic anomaly identified. Management should involve removal of streak gonadal tissue as there is a high risk for malignancy.

Possible associated health issues e.

Gonadal dysgenesis and tumors: genetic and clinical features

Hormone substitution is recommended at the time of puberty. Psychological support should also be offered to patients and their families. Infertility is an important management issue; however, pregnancy may be feasible through zygote egg donation. With appropriate management, the risk of malignancy is low and the psychological and clinical outcome for patients is good.

Orphanet: Disgenesia gonadal pura 46 XY

puea Other search option s Alphabetical list. Summary and related texts. Check this box if you wish to receive a copy of your message. Disease definition 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 presence of female external and internal genitalia despite the 46,XY karyotype.

AdolescentAdult ICD Summary Epidemiology The prevalence is unknown. Clinical description Patients present during adolescence or early adulthood with normal female external genitalia but lack pubertal development although adrenarche is disgenesix. Etiology Although the etiology is not completely understood, 46,XY CGD results from failure of testicular development due to disruption of the underlying genetic pathways and several genes have been implicated: 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.

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Antenatal diagnosis Prenatal diagnosis is feasible for families in which the genetic anomaly has been confirmed but is only recommended in syndromic cases. Genetic counseling Although some cases of 46,XY CGD occur sporadically, genetic counseling may be offered to affected families and should be adapted disgeneaia on the mode of inheritance associated with dishenesia genetic anomaly identified.

Management and treatment Management should involve removal of streak gonadal tissue as there is a high risk for malignancy.

Prognosis With appropriate management, the risk of malignancy is low and the psychological and clinical gknadal for patients is good. Detailed information Professionals Summary information Greekpdf Polskipdf Review article English Clinical genetics review English Additional information Further information on this disease Classification s 7 Gene s 9 Clinical signs and symptoms Publications in PubMed Other website s 5.

Health care resources for this disease Expert centres Diagnostic tests Patient organisations 21 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.