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
|
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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2005 | 1 | 0 | 1 |
2009 | 0 | 1 | 1 |
2016 | 1 | 0 | 1 |
2017 | 1 | 0 | 1 |
2018 | 0 | 1 | 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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Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN. Blood. 2018 08 09; 132(6):658-662.
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Risk association of congenital anomalies in patients with ambiguous genitalia: A 22-year single-center experience. J Pediatr Urol. 2018 04; 14(2):153.e1-153.e7.
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Evidence-Based Management of Patients with 45,X/46,XY Gonadal Dysgenesis and Male Sex Assignment: from Infancy to Adulthood. Pediatr Endocrinol Rev. 2016 Mar; 13(3):585-601.
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A novel 15bp micro-duplication in SF-1 gene showing diverse phenotypic spectrum in a Chinese family. J Matern Fetal Neonatal Med. 2011 Jan; 24(1):132-6.
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Bilateral gonadoblastoma with dysgerminoma and pilocytic astrocytoma with WT1 GT-IVS9 mutation: A 46 XY phenotypic female with Frasier syndrome. Pediatr Blood Cancer. 2009 Dec 15; 53(7):1349-51.
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A novel frame shift mutation in the HMG box of the SRY gene in a patient with complete 46,XY pure gonadal dysgenesis. Diagn Mol Pathol. 2005 Sep; 14(3):159-63.