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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Endocrine disruptors interfere with the endocrine system and hormones.

World J Surg Oncol. Specialised Social Services Eurordis directory. Etiology Pira 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: Disease definition 46,XX gonadal dysgenesis 46,XX GD is a primary ovarian defect leading to premature ovarian failure POF; see this term in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation.

Obst Gynecol Surv ; Etiology Ovarian dysgenesis results from genetic defects of ovarian development.

Orphanet: Disgenesia gonadal pura 46 XY

Current evaluation of amenorrhea. Es el segundo en frecuencia. With appropriate management, the risk of malignancy is low and the psychological and clinical outcome for patients is good.


N Engl J Med ; Monosomy Turner syndrome 45,X.

Disgenesia gonadal XY

Obstet and Gynecol ; Segundo Lippe e cols. A novel missense mutation S18N in the 5′ non-HMG box region of the SRY gene in a patient with partial gonadal dysgenesis and his normal male relatives. Genet Couns ;2: Hormone substitution is recommended at the time of puberty.

Molecular characterization of 6 unrelated Italian patients with 5a-reductase type 2 deficiency.

Gonadoblastoma, a mixed germ cell and sex-cord cells tumor with variable degree of focal calcification, is the most harmful due to its frequency. The distribution disgejesia chromosomal genotypes associated with Turner syndrome: Canadian Medical Association Journal. 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.

This section is empty. Cytogenetic studies in women with primary amenorrhea. The internal and external genitalia are normally developed. Other search option s Alphabetical list. Prader-Willi and Angelman syndromes. Am J Med Genet ; J Clin Endocrinol Metab. Arch Pathol Lab Med ; Ovarian dysgenesis results from genetic djsgenesia of ovarian development.

Primary amenorrhea and XY karyotype: identifying patients in risk

Nat Genet ; Arq Bras Endocrinol Metab. VisitadoAbr 8. Early diagnosis of 5a-reductase deficiency in newborns. J Clin Endocrinol Metab Manifestations of gonadal dysgenesis are dependent on the aetiology and severity of the underlying defect.


Amenorrhea, Y chromosome, Sexual differentiation, Androgen receptors, Testosterone, Dihydrotestosterone, 46,XY gonadal dysgenesis, 17 alpha-hydroxylase.

Antenatal diagnosis Prenatal diagnosis is feasible for families in which the genetic anomaly has been confirmed but is only eisgenesia in syndromic cases. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. Clin Endocrinol Oxf ; The documents contained in this web site are presented for information purposes only.

Gonadal dysgenesis is classified as any congenital developmental disorder of the reproductive system [1] in the male or female.

It is the defective development of the gonads in an embryo[2] with reproductive tissue replaced with functionless, fibrous tissuetermed streak gonads. Advances in pathology of intersex conditions.

Although Y-specific sequences are seldom cytogenetically evident, dysgenetic gonads are potentially prone to developing tumors. Medline and Ovid databases were searched for papers published in English using the following keywords: