DISGENESIA GONADAL XY PDF

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. The clinical manifestations are highly variable, ranging from partial virilisation and ambiguous genitalia at birth to patients with a completely male or female phenotype. The most common feature of MGD is asymmetric development of testes, often with a dysgenetic testis on one side and a streak gonad on the other.

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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, please send your remarks via contact us. Only comments written in English can be processed. The clinical manifestations are highly variable, ranging from partial virilisation and ambiguous genitalia at birth to patients with a completely male or female phenotype.

The most common feature of MGD is asymmetric development of testes, often with a dysgenetic testis on one side and a streak gonad on the other.

Asymmetry of the external and internal genitalia may also be present. Infants with male sex assignment may present with cryptorchidism, partial testicular dysgenesis, and hypospadias.

Infants with female sex assignment present with varying degrees of virilization and may show manifestations of other clinical features of Turner syndrome see this term. The uterus is of variable size and the degree of differentiation of the internal genitalia varies. Short stature may be present in both sexes and patients are at increased risk of developing gonadoblastomas and dysgerminomas see these terms. Psychomotor development is normal.

The presence of 45,X cell lines is frequently associated with Y chromosome rearrangements commonly dicentric and ring Y chromosomes , which may also have an impact on the phenotype.

All cases are sporadic. Several genotype-phenotype correlations have been established: partial expression of the SRY gene leading to partial testicular dysgenesis and resulting in diminished testosterone synthesis and hence to the virilisation deficit , presence of the gonadoblastoma TSPY1 locus on the Y-chromosome in females associated with an increased risk for the development of neoplasms , and dosage loss of the SHOX gene leading to short stature.

Diagnosis is made by cytogenetic analysis of chromosome status. Karyotype analysis may be conducted prenatally after amniocentesis or chorionic villus sampling, postnatally in patients with ambiguous genitalia, or later in life in patients with fertility problems. 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.

Surgical reconstruction of genital status should be performed in due course. Gonadectomy may be favoured in patients with a female sex assignment due to the increased risk of gonadoblastoma. In patients with male sex assignment, orchidopexy is required for fixation of the testes in the scrotum and biopsy may be recommended at the time of puberty. Usually, the more dysgenetic gonad needs to be removed.

Due to the increased risk of malignancy, ultrasound of the gonads should be performed on a regular basis. In some patients, the possibility of growth hormone treatment needs to be discussed if short stature is found. Other search option s Alphabetical list. Suggest an update. Summary and related texts. Related genes. Clinical signs. Check this box if you wish to receive a copy of your message. Summary Epidemiology Prevalence is unknown.

Clinical description The clinical manifestations are highly variable, ranging from partial virilisation and ambiguous genitalia at birth to patients with a completely male or female phenotype. Diagnostic methods Diagnosis is made by cytogenetic analysis of chromosome status.

Antenatal diagnosis Antenatal diagnosis is possible if a genital malformation is suspected with imaging. 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.

Prognosis Clinical and psychological outcomes depend on the quality of care and level support provided. Detailed information Professionals Summary information Greek , pdf Polski , pdf. Health care resources for this disease Expert centres Diagnostic tests Patient organisations 36 Orphan designation s and 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.

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Click here to learn What's New at our website. Page views in Accessed June 4th, Form of gonadal dysgenesis underdeveloped and dysfunctioning testes associated with male 46,XY genotype and female internal and external phenotype Phenotypic female, hypoplastic streak gonads without germ cells. Term gonadal dysgenesis originally referred to Turner syndrome but it is now applied to other conditions as well Under the new nomenclature, this form of gonadal dysgenesis is considered a type of 46,XY DSD disorder of sex development Also called Swyer syndrome. Clinical features. In the absence of testosterone, external genitalia fail to virilize and the Wolffian ducts fail to develop, leading to normal female genitalia and absent internal male organs Presents with primary amenorrhea delayed puberty since no functional gonads are present to induce puberty May develop pubic hair through androgens produced from adrenal gland.

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NCBI Bookshelf. Nonsyndromic disorders of testicular development are a group of conditions characterized by the following:. Based on the particular features seen in any given individual, the clinical diagnosis may be designated as 46,XY disorder of sex development DSD or 46,XY complete gonadal dysgenesis CGD. Genetic counseling and risk assessment depend on determination of the specific cause and the sex chromosome complement of the individual who harbors the pathogenic variant s. View in own window.

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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, please send your remarks via contact us. Only comments written in English can be processed. The degree of genital ambiguity varies along a spectrum, ranging from an almost female phenotype with clitoromegaly at one extreme to an almost male phenotype with isolated hypospadias at the other.

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