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.
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
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
- Complete 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 Harvard Catalyst Profiles by year, and whether "Gonadal Dysgenesis, 46,XY" was a major or minor topic of these publication.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1995 | 1 | 0 | 1 |
| 1997 | 2 | 0 | 2 |
| 1999 | 0 | 1 | 1 |
| 2004 | 1 | 0 | 1 |
| 2006 | 1 | 0 | 1 |
| 2013 | 1 | 0 | 1 |
| 2019 | 1 | 0 | 1 |
Below are the most recent publications written about "Gonadal Dysgenesis, 46,XY" by people in Profiles.
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TESTICULAR REGRESSION SYNDROME: PRACTICE VARIATION IN DIAGNOSIS AND MANAGEMENT. Endocr Pract. 2019 Aug; 25(8):779-786.
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The novel mutation p.Trp147Arg of the steroidogenic acute regulatory protein causes classic lipoid congenital adrenal hyperplasia with adrenal insufficiency and 46,XY disorder of sex development. Horm Res Paediatr. 2013; 80(3):163-9.
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XY sex reversal, pontocerebellar hypoplasia and intellectual disability: confirmation of a new syndrome. Am J Med Genet A. 2013 Jul; 161A(7):1714-7.
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Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development. J Med Genet. 2011 Dec; 48(12):825-30.
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Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis. PLoS One. 2011 Mar 07; 6(3):e17793.
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P450c17 deficiency: clinical and molecular characterization of six patients. J Clin Endocrinol Metab. 2007 Mar; 92(3):1000-7.
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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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A region of human chromosome 9p required for testis development contains two genes related to known sexual regulators. Hum Mol Genet. 1999 Jun; 8(6):989-96.
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Brenner tumor in 46,XY gonadal dysgenesis. Obstet Gynecol. 1997 Oct; 90(4 Pt 2):707-8.
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Abnormal XY interchange between a novel isolated protein kinase gene, PRKY, and its homologue, PRKX, accounts for one third of all (Y+)XX males and (Y-)XY females. Hum Mol Genet. 1997 Oct; 6(11):1985-9.