Gonadal dysgenesis is classified as any congenital developmental disorder of the reproductive system in the male or female. It is the defective development of. English Spanish online dictionary Term Bank, translate words and terms with different pronunciation options. El síndrome de Swyer-James es un desorden de los cromosomas sexuales y la diferenciación sexual caracterizado por una disgenesia gonadal pura 46 XY en.

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Biology of Sex Differences. Dysgenesis gonadal type XX. Summary and related texts. Disorders of Sexual Differentiation and Puberty in the Male”. Although Y-specific sequences are seldom cytogenetically evident, dysgenetic gonads are potentially prone to developing tumors.

Personal case reports and a review of the literature. The pregnancy outcome of Turner syndrome: Arch Pathol Lab Med ; Specialised Social Services Eurordis directory. Prenatal diagnosis is feasible for families in which the genetic anomaly has been confirmed but is only recommended in syndromic cases.

Antenatal diagnosis Prenatal diagnosis is feasible for families in which the genetic anomaly has been confirmed but is only recommended in syndromic cases. Disorders of sex development: Associationd’un syndrome anatomo-pathologique de pseudohermaphroditisme masculin, d’une tumeur de Wilms, d’une nephropathie parenchymateuse et d’une mosaicisme XX XY. It is believed that this fact is related to the way patients are usually referred to our service.

Management should involve removal of streak gonadal tissue as there is a high risk for malignancy. Etiology Ovarian dysgenesis results from genetic defects of ovarian development.

disgenesia gonadal pura

All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License. The degree of development of the male reproductive tract is determined by the ratio of germ line cells expressing disgenesis XY genotype.


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.

Manifestations of gonadal dysgenesis are dependent on the aetiology and severity of the underlying defect. Clinical and pathologic spectrum of 46,XY gonadal dysgenesis: Detailed information Professionals Summary information Greekpdf Polskipdf Review article English Clinical genetics review English Services on Demand Journal.

Development ; suppl: Only comments written in English can be processed. Inactivating FSHR mutations are inherited in an autosomal recessive manner, BMP15 mutations are inherited in an X-linked manner and Disgenewia mutations are autosomal dominant in the great majority of cases.

Gonadal dysgenesis arises from the failure of signalling in this tightly regulated process during early foetal development.

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Patients are born as females without ambiguity. Genet Couns ;2: Arq Bras Endocrinol Metab. Gonaddal Endocrinol ; Dysgenesis gonadal type XY. 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.

Gonadal dysgenesis and tumors: genetic and clinical features

Gen Chrom Cancer ; 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. Patients present during adolescence or early adulthood with normal female external genitalia but lack pubertal development although adrenarche is normal. 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: Other gonadal tumor, maligns or not, also occur in gonadal dysgenesis.


With appropriate management, the risk of malignancy is low and the psychological and clinical outcome for patients is good. Systemic arterial hypertension was only diagnosed in the patient with 17 alpha-hydroxylase deficiency, and gonadal malignization, in the one with XY PGD. EmAlvarez-Nava e cols. J Mol Med ; American Journal of Medical Genetics. AdolescentAdult ICD Male pseudohermaphroditism caused by alpha-hydroxylase deficiency.

The distribution of chromosomal genotypes associated with Turner syndrome: Articles with short description Infobox medical condition new Articles to be expanded from August All articles to be expanded Articles with empty sections from August All articles with empty sections Articles using small message boxes Use dmy dates from May Their ages varied from 16 to 41 years old an average of Role of gonadal dysgenesis in gonadoblastoma induction in 46,XY individuals.

Early diagnosis of 5a-reductase deficiency in newborns.

Disgenesia gonadal XY – Wikipédia, a enciclopédia livre

SRY gene deletion of or loss-of-function mutations; Yp The xisgenesia of Turner syndrome phenotype can be the result of haploinsufficiencywhere a portion of critical genes are rendered inactive during embryogenesis. Gonadal dysgenesis and tumors: Ela pode ser tanto herdada na forma ligada ao X como autossomicamente 1.

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.

Inverse correlation between natural antitumor antibodies and tumor susceptibility in individual xid-bearing mice.