Gonadal Dysgenesis, 46,XY [gonadální dysgeneze karyotypu 46,XY]

topical
22
Terms

čistá forma gonadální dysgeneze typu 46,XY
dysgeneze gonád typu 46,XY
gonády - dysgeneze, 46,XY
Swyerův syndrom

 

46, XY Gonadal Dysgenesis
46, XY Gonadal Sex Reversal
46,XY Complete Gonadal Dysgenesis
Complete Gonadal Dysgenesis, 46, XY
Gonadal Dysgenesis, 46, XY
Pure Gonadal Dysgenesis 46,XY
Pure Gonadal Dysgenesis, 46, XY
Sex Reversal, Gonadal, 46, XY
Swyer Syndrome
XY Pure Gonadal Dysgenesis

Persistent link   https://www.medvik.cz/link/D006061
Definition

Defects in the SEX DETERMINATION PROCESS in 46, XY individuals that result in abnormal gonadal development and deficiencies in TESTOSTERONE and subsequently ANTIMULLERIAN HORMONE or other factors required for normal male sex development. This leads to the development of female phenotypes (male to female sex reversal), normal to tall stature, and bilateral streak or dysgenic gonads which are susceptible to GONADAL TISSUE NEOPLASMS. An XY gonadal dysgenesis is associated with structural abnormalities on the Y CHROMOSOME, a mutation in the GENE, SRY, or a mutation in other autosomal genes that are involved in sex determination.

DUI
D006061 MeSH Browser
CUI
M0009539
Previous indexing
Sex Differentiation Disorders (1966-1979); Turner's Syndrome (1967-1979)
History note
91(80); was see under GONADAL DYSGENESIS 1980-90
Public note
91; was see under GONADAL DYSGENESIS 1980-90

C Diseases
C12.050.351.875 Urogenital Abnormalities 145
C12.050.351.875.253 Disorders of Sex Development 231
C12.050.351.875.253.096 Disorder of Sex Development, 46,XY 8
C12.050.351.875.253.096.500 Androgen-Insensitivity Syndrome 56
C12.050.351.875.253.096.562 Denys-Drash Syndrome 2
C12.050.351.875.253.096.624 Frasier Syndrome
C12.050.351.875.253.096.687 Gonadal Dysgenesis, 46,XY 22
C12.050.351.875.253.096.687.500 Gonadoblastoma 20
C12.050.351.875.253.096.750 Kallmann Syndrome 10
C12.050.351.875.253.096.875 WAGR Syndrome 3
C12.050.351.875.253.309 Gonadal Dysgenesis 59
C12.050.351.875.253.309.193 Gonadal Dysgenesis, 46,XX 2
C12.050.351.875.253.309.388 Gonadal Dysgenesis, 46,XY 22
C12.050.351.875.253.309.388.500 Gonadoblastoma 20
C12.050.351.875.253.309.391 Gonadal Dysgenesis, Mixed 9
C12.050.351.875.253.309.631 Sexual Infantilism 3
C12.050.351.875.253.309.872 Turner Syndrome 272
C12.200.706.316 Disorders of Sex Development 231
C12.200.706.316.096.500 Androgen-Insensitivity Syndrome 56
C12.200.706.316.096.562 Denys-Drash Syndrome 2
C12.200.706.316.096.624 Frasier Syndrome
C12.200.706.316.096.687 Gonadal Dysgenesis, 46,XY 22
C12.200.706.316.096.687.500 Gonadoblastoma 20
C12.200.706.316.096.750 Kallmann Syndrome 10
C12.200.706.316.096.875 WAGR Syndrome 3
C12.200.706.316.309 Gonadal Dysgenesis 59
C12.200.706.316.309.193 Gonadal Dysgenesis, 46,XX 2
C12.200.706.316.309.388 Gonadal Dysgenesis, 46,XY 22
C12.200.706.316.309.388.500 Gonadoblastoma 20
C12.200.706.316.309.391 Gonadal Dysgenesis, Mixed 9
C12.200.706.316.309.631 Sexual Infantilism 3
C12.200.706.316.309.872 Turner Syndrome 272
C12.800.316.096.500 Androgen-Insensitivity Syndrome 56
C12.800.316.096.562 Denys-Drash Syndrome 2
C12.800.316.096.624 Frasier Syndrome
C12.800.316.096.687 Gonadal Dysgenesis, 46,XY 22
C12.800.316.096.687.500 Gonadoblastoma 20
C12.800.316.096.750 Kallmann Syndrome 10
C12.800.316.096.875 WAGR Syndrome 3
C12.800.316.309 Gonadal Dysgenesis 59
C12.800.316.309.193 Gonadal Dysgenesis, 46,XX 2
C12.800.316.309.388 Gonadal Dysgenesis, 46,XY 22
C12.800.316.309.388.500 Gonadoblastoma 20
C12.800.316.309.391 Gonadal Dysgenesis, Mixed 9
C12.800.316.309.631 Sexual Infantilism 3
C12.800.316.309.872 Turner Syndrome 272
C16.131.939.316 Disorders of Sex Development 231
C16.131.939.316.096.500 Androgen-Insensitivity Syndrome 56
C16.131.939.316.096.562 Denys-Drash Syndrome 2
C16.131.939.316.096.624 Frasier Syndrome
C16.131.939.316.096.687 Gonadal Dysgenesis, 46,XY 22
C16.131.939.316.096.687.500 Gonadoblastoma 20
C16.131.939.316.096.750 Kallmann Syndrome 10
C16.131.939.316.096.875 WAGR Syndrome 3
C16.131.939.316.309 Gonadal Dysgenesis 59
C16.131.939.316.309.193 Gonadal Dysgenesis, 46,XX 2
C16.131.939.316.309.388 Gonadal Dysgenesis, 46,XY 22
C16.131.939.316.309.388.500 Gonadoblastoma 20
C16.131.939.316.309.391 Gonadal Dysgenesis, Mixed 9
C16.131.939.316.309.631 Sexual Infantilism 3
C16.131.939.316.309.872 Turner Syndrome 272
C19.391.119.096.500 Androgen-Insensitivity Syndrome 56
C19.391.119.096.562 Denys-Drash Syndrome 2
C19.391.119.096.624 Frasier Syndrome
C19.391.119.096.687 Gonadal Dysgenesis, 46,XY 22
C19.391.119.096.687.500 Gonadoblastoma 20
C19.391.119.096.750 Kallmann Syndrome 10
C19.391.119.096.875 WAGR Syndrome 3
C19.391.119.309 Gonadal Dysgenesis 59
C19.391.119.309.193 Gonadal Dysgenesis, 46,XX 2
C19.391.119.309.388 Gonadal Dysgenesis, 46,XY 22
C19.391.119.309.388.500 Gonadoblastoma 20
C19.391.119.309.391 Gonadal Dysgenesis, Mixed 9
C19.391.119.309.631 Sexual Infantilism 3
C19.391.119.309.872 Turner Syndrome 272

46, XY Sex Reversal 5 Disease MeSH Browser

46, XY female Disease MeSH Browser

46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related Disease MeSH Browser

46,XY Sex Reversal 4 Disease MeSH Browser

46,Xy Gonadal Dysgenesis, Complete, Sry-Related Disease MeSH Browser

46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy Disease MeSH Browser

Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal Disease MeSH Browser

Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations Disease MeSH Browser

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Anorchia Disease MeSH Browser

Genito palato cardiac syndrome Disease MeSH Browser

Gonadal Dysgenesis, XY Type, with Associated Anomalies Disease MeSH Browser

Kennerknecht Vogel syndrome Disease MeSH Browser

Male Pseudohermaphroditism due to Deficiency of Testicular 17,20-Desmolase Disease MeSH Browser

Meacham Winn Culler syndrome Disease MeSH Browser

Spastic Paraplegia, Optic Atrophy, Microcephaly, And Xy Sex Reversal Disease MeSH Browser

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