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Descriptor English: Gonadal Dysgenesis, 46,XY
Descriptor Spanish: Disgenesia Gonadal 46 XY
Descriptor disgenesia gonadal 46XY
Entry term(s) síndrome de Swyer
Scope note: Este tipo de defecto gonadal se caracteriza por un feneotipo femenino, estatura de normal a alta, gónadas en estría bilaterales o disgenéticas y un cariotipo 46,XY. Esta disgenesia gonadal XY es una afección heterogénea con formas variantes que son consecuencia de una anomalía estructural en el cromosoma Y, una mutación en el gen SRY o una mutación en los genes autosómicos. En ocasiones el síndrome recibe la denominación de "disgenesia gonadal pura", pero esta designación puede hacer referencia también a la disgenesia gonadal con un cariotipo 46,XX (DISGENESIA GONADAL 46,XX).
Descriptor Portuguese: Disgenesia Gonadal 46 XY
Descriptor French: Dysgénésie gonadique 46, XY
Entry term(s): 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
Syndrome, Swyer
XY Pure Gonadal Dysgenesis
Tree number(s): C12.050.351.875.253.096.687
C12.050.351.875.253.309.388
C12.200.706.316.096.687
C12.200.706.316.309.388
C12.800.316.096.687
C12.800.316.309.388
C16.131.939.316.096.687
C16.131.939.316.309.388
C19.391.119.096.687
C19.391.119.309.388
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D006061
Scope note: 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.
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Previous Indexing: Sex Differentiation Disorders (1966-1979)
Turner's Syndrome (1967-1979)
Public MeSH Note: 91; was see under GONADAL DYSGENESIS 1980-90
History Note: 91(80); was see under GONADAL DYSGENESIS 1980-90
DeCS ID: 6208
Unique ID: D006061
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1991/01/01
Date of Entry: 1978/12/21
Revision Date: 2013/07/08
Gonadal Dysgenesis, 46,XY - Preferred
Concept UI M0009539
Scope note 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.
Preferred term Gonadal Dysgenesis, 46,XY
Entry term(s) 46, XY Gonadal Dysgenesis
46, XY Gonadal Sex Reversal
Gonadal Dysgenesis, 46, XY
Sex Reversal, Gonadal, 46, XY
Swyer Syndrome - Narrower
Concept UI M0543288
Preferred term Swyer Syndrome
Entry term(s) 46,XY Complete Gonadal Dysgenesis
Complete Gonadal Dysgenesis, 46, XY
Pure Gonadal Dysgenesis 46,XY
Pure Gonadal Dysgenesis, 46, XY
Syndrome, Swyer
XY Pure Gonadal Dysgenesis



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