Gonadal Dysgenesis, 46,XY
"Gonadal Dysgenesis, 46,XY" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
Descriptor ID |
D006061
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MeSH Number(s) |
C12.706.316.096.687 C12.706.316.309.388 C13.351.875.253.096.687 C13.351.875.253.309.388 C16.131.939.316.096.687 C16.131.939.316.309.388 C19.391.119.096.687 C19.391.119.309.388
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Concept/Terms |
Gonadal Dysgenesis, 46,XY- Gonadal Dysgenesis, 46,XY
- Sex Reversal, Gonadal, 46, XY
- Gonadal Dysgenesis, 46, XY
- 46, XY Gonadal Dysgenesis
- 46, XY Gonadal Sex Reversal
Swyer Syndrome- Swyer Syndrome
- Syndrome, Swyer
- Pure Gonadal Dysgenesis 46,XY
- 46,XY Complete Gonadal Dysgenesis
- XY Pure Gonadal Dysgenesis
- Complete Gonadal Dysgenesis, 46, XY
- Pure Gonadal Dysgenesis, 46, XY
|
Below are MeSH descriptors whose meaning is more general than "Gonadal Dysgenesis, 46,XY".
- Diseases [C]
- Male Urogenital Diseases [C12]
- Urogenital Abnormalities [C12.706]
- Disorders of Sex Development [C12.706.316]
- 46, XY Disorders of Sex Development [C12.706.316.096]
- Gonadal Dysgenesis, 46,XY [C12.706.316.096.687]
- Gonadal Dysgenesis [C12.706.316.309]
- Gonadal Dysgenesis, 46,XY [C12.706.316.309.388]
- Female Urogenital Diseases and Pregnancy Complications [C13]
- Female Urogenital Diseases [C13.351]
- Urogenital Abnormalities [C13.351.875]
- Disorders of Sex Development [C13.351.875.253]
- 46, XY Disorders of Sex Development [C13.351.875.253.096]
- Gonadal Dysgenesis, 46,XY [C13.351.875.253.096.687]
- Gonadal Dysgenesis [C13.351.875.253.309]
- Gonadal Dysgenesis, 46,XY [C13.351.875.253.309.388]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Congenital Abnormalities [C16.131]
- Urogenital Abnormalities [C16.131.939]
- Disorders of Sex Development [C16.131.939.316]
- 46, XY Disorders of Sex Development [C16.131.939.316.096]
- Gonadal Dysgenesis, 46,XY [C16.131.939.316.096.687]
- Gonadal Dysgenesis [C16.131.939.316.309]
- Gonadal Dysgenesis, 46,XY [C16.131.939.316.309.388]
- Endocrine System Diseases [C19]
- Gonadal Disorders [C19.391]
- Disorders of Sex Development [C19.391.119]
- 46, XY Disorders of Sex Development [C19.391.119.096]
- Gonadal Dysgenesis, 46,XY [C19.391.119.096.687]
- Gonadal Dysgenesis [C19.391.119.309]
- Gonadal Dysgenesis, 46,XY [C19.391.119.309.388]
Below are MeSH descriptors whose meaning is more specific than "Gonadal Dysgenesis, 46,XY".
This graph shows the total number of publications written about "Gonadal Dysgenesis, 46,XY" by people in this website by year, and whether "Gonadal Dysgenesis, 46,XY" was a major or minor topic of these publications.
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Year | Major Topic | Minor Topic | Total |
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2004 | 1 | 0 | 1 |
2019 | 1 | 0 | 1 |
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Below are the most recent publications written about "Gonadal Dysgenesis, 46,XY" by people in Profiles.
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A Phenotypic Female Adolescent with Primary Amenorrhea and Dysmorphic Features. Pediatr Ann. 2019 Dec 01; 48(12):e495-e500.
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Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal. Am J Med Genet A. 2004 Mar 15; 125A(3):293-8.
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Complete deletion of the androgen receptor gene: definition of the null phenotype of the androgen insensitivity syndrome and determination of carrier status. J Clin Endocrinol Metab. 1992 Apr; 74(4):927-33.