 Turner Syndrome
"Turner Syndrome" 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.
A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant.
| Descriptor ID |
D014424
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| MeSH Number(s) |
C12.706.316.309.872 C12.706.316.795.750 C13.351.875.253.309.872 C13.351.875.253.795.750 C14.240.400.980 C14.280.400.980 C16.131.240.400.970 C16.131.260.830.835.750 C16.131.939.316.309.872 C16.131.939.316.795.750 C16.320.180.830.835.750 C19.391.119.309.872 C19.391.119.795.750
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| Concept/Terms |
Turner Syndrome- Turner Syndrome
- Ullrich-Turner Syndrome
- Syndrome, Ullrich-Turner
- Ullrich Turner Syndrome
- Turner's Syndrome
- Turners Syndrome
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Below are MeSH descriptors whose meaning is more general than "Turner Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Turner Syndrome".
This graph shows the total number of publications written about "Turner Syndrome" by people in this website by year, and whether "Turner Syndrome" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1994 | 1 | 0 | 1 | | 2001 | 1 | 0 | 1 | | 2003 | 1 | 0 | 1 | | 2004 | 1 | 0 | 1 | | 2006 | 1 | 0 | 1 | | 2015 | 0 | 1 | 1 | | 2018 | 1 | 0 | 1 | | 2019 | 4 | 0 | 4 | | 2021 | 3 | 0 | 3 | | 2022 | 2 | 0 | 2 | | 2023 | 4 | 0 | 4 | | 2024 | 1 | 0 | 1 |
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Below are the most recent publications written about "Turner Syndrome" by people in Profiles.
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Carl A, Good M, Haag E, Hutaff-Lee C, Swain D, Tartaglia N, Sakamoto C, Davis S, Thompson T. Anxiety in Turner syndrome: Engaging community to address barriers and facilitators to diagnosis and care. Am J Med Genet A. 2024 08; 194(8):e63564.
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Huang SD, Bamba V, Bothwell S, Fechner PY, Furniss A, Ikomi C, Nahata L, Nokoff NJ, Pyle L, Seyoum H, Davis SM. Development and validation of a computable phenotype for Turner syndrome utilizing electronic health records from a national pediatric network. Am J Med Genet A. 2024 04; 194(4):e63495.
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Pham TT, Davis SM, Tong S, Campa KA, Friedman NR, Gitomer SA. High Prevalence of Obstructive Sleep-Disordered Breathing in Pediatric Patients With Turner Syndrome. Otolaryngol Head Neck Surg. 2024 Mar; 170(3):905-912.
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Kanakatti Shankar R, Carl A, Law JR, Bamba V, Brickman WJ, Prakash SK, Dowlut McElroy T, Howell S, Gutmark Little I, Klein KO, Pinnaro CT, Ranallo K, Good M, Davis SM. Inspiring New Science to Guide Healthcare in Turner Syndrome: Rationale, design, and methods for the InsighTS Registry. Am J Med Genet A. 2024 02; 194(2):311-319.
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Kremen J, Davis SM, Nahata L, Kapa HM, Dattilo TM, Liu E, Hutaff-Lee C, Tishelman AC, Crerand CE. Neuropsychological and mental health concerns in a multicenter clinical sample of youth with turner syndrome. Am J Med Genet A. 2023 04; 191(4):962-976.
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Singh I, Noel G, Barker JM, Chatfield KC, Furniss A, Khanna AD, Nokoff NJ, Patel S, Pyle L, Nahata L, Cole FS, Ikomi C, Bamba V, Fechner PY, Davis SM. Hepatic abnormalities in youth with Turner syndrome. Liver Int. 2022 10; 42(10):2237-2246.
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Theroux CI, Elliott V, Davis S, Crerand CE, Kremen J, Tishelman A, Hutaff-Lee C, Nahata L. Fertility Counseling Practices for Patients with Turner Syndrome in Pediatric Endocrine Clinics: Results of a Pediatric Endocrine Society Survey. Horm Res Paediatr. 2022; 95(4):321-330.
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Davis S, Crerand C, Hutaff-Lee C, Thompson T, Tishelman A, Samara O, Umbaugh H, Nahata L, Kremen J. Neurodevelopmental and Mental Health Screening for Patients with Turner Syndrome in Pediatric Endocrine Clinics: Results of a Pediatric Endocrine Society Survey. Horm Res Paediatr. 2020; 93(11-12):643-650.
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Singh I, Duca LM, Kao D, Chatfield KC, Khanna AD. Outcomes in hospitalisations of women with Turner syndrome compared to women without Turner syndrome. Cardiol Young. 2021 Oct; 31(10):1667-1674.
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Guzewicz L, Howell S, Crerand CE, Umbaugh H, Nokoff NJ, Barker J, Davis SM. Clinical phenotype and management of individuals with mosaic monosomy X with Y chromosome material stratified by genital phenotype. Am J Med Genet A. 2021 05; 185(5):1437-1447.
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