Gonadal Dysgenesis, 46,XX
"Gonadal Dysgenesis, 46,XX" 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.
The 46,XX gonadal dysgenesis may be sporadic or familial. Familial XX gonadal dysgenesis is transmitted as an autosomal recessive trait and its locus was mapped to chromosome 2. Mutation in the gene for the FSH receptor (RECEPTORS, FSH) was detected. Sporadic XX gonadal dysgenesis is heterogeneous and has been associated with trisomy-13 and trisomy-18. These phenotypic females are characterized by a normal stature, sexual infantilism, bilateral streak gonads, amenorrhea, elevated plasma LUTEINIZING HORMONE and FSH concentration.
MeSH Number(s)
C12.706.316.064.249
C12.706.316.309.193
C13.351.875.253.064.249
C13.351.875.253.309.193
C16.131.939.316.064.249
C16.131.939.316.309.193
C19.391.119.064.249
C19.391.119.309.193
Below are MeSH descriptors whose meaning is more general than "Gonadal Dysgenesis, 46,XX".
- Diseases [C]
- Male Urogenital Diseases [C12]
- Urogenital Abnormalities [C12.706]
- Disorders of Sex Development [C12.706.316]
- 46, XX Disorders of Sex Development [C12.706.316.064]
- Gonadal Dysgenesis, 46,XX [C12.706.316.064.249]
- Gonadal Dysgenesis [C12.706.316.309]
- Gonadal Dysgenesis, 46,XX [C12.706.316.309.193]
- 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, XX Disorders of Sex Development [C13.351.875.253.064]
- Gonadal Dysgenesis, 46,XX [C13.351.875.253.064.249]
- Gonadal Dysgenesis [C13.351.875.253.309]
- Gonadal Dysgenesis, 46,XX [C13.351.875.253.309.193]
- 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, XX Disorders of Sex Development [C16.131.939.316.064]
- Gonadal Dysgenesis, 46,XX [C16.131.939.316.064.249]
- Gonadal Dysgenesis [C16.131.939.316.309]
- Gonadal Dysgenesis, 46,XX [C16.131.939.316.309.193]
- Endocrine System Diseases [C19]
- Gonadal Disorders [C19.391]
- Disorders of Sex Development [C19.391.119]
- 46, XX Disorders of Sex Development [C19.391.119.064]
- Gonadal Dysgenesis, 46,XX [C19.391.119.064.249]
- Gonadal Dysgenesis [C19.391.119.309]
- Gonadal Dysgenesis, 46,XX [C19.391.119.309.193]
Below are MeSH descriptors whose meaning is more specific than "Gonadal Dysgenesis, 46,XX".
This graph shows the total number of publications written about "Gonadal Dysgenesis, 46,XX" by people in Harvard Catalyst Profiles by year, and whether "Gonadal Dysgenesis, 46,XX" 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 |
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2006 | 1 | 0 | 1 |
2011 | 0 | 1 | 1 |
2013 | 2 | 0 | 2 |
2014 | 1 | 0 | 1 |
Below are the most recent publications written about "Gonadal Dysgenesis, 46,XX" by people in Profiles.
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Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features. Neurology. 2014 Nov 25; 83(22):2054-61.
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Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome. Am J Hum Genet. 2013 Apr 04; 92(4):614-20.
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Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. Am J Hum Genet. 2013 Apr 04; 92(4):605-13.
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Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. Proc Natl Acad Sci U S A. 2011 Apr 19; 108(16):6543-8.
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P450c17 deficiency: clinical and molecular characterization of six patients. J Clin Endocrinol Metab. 2007 Mar; 92(3):1000-7.