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Associations of Karyotype and Age at Diagnosis with Physical Features and Comorbidities in Turner Syndrome: A Single-Site Experience

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Title: Associations of Karyotype and Age at Diagnosis with Physical Features and Comorbidities in Turner Syndrome: A Single-Site Experience
Authors: Vida B, Török O, Felszeghy E, Orosz M, Krasznai ZT, Tándor Z, Jakab A, Deli T
Source: The Application of Clinical Genetics, Vol Volume 18, Pp 9-27 (2025)
Publisher Information: Dove Medical Press, 2025.
Publication Year: 2025
Collection: LCC:Medicine (General)
LCC:Genetics
Subject Terms: turner-syndrome, karyotype-phenotype association, comorbidities, mosaicism, incomplete penetrance, premature ovarian insufficiency, Medicine (General), R5-920, Genetics, QH426-470
More Details: Beáta Vida,1 Olga Török,1 Enikő Felszeghy,2 Mónika Orosz,1 Zoárd Tibor Krasznai,1 Zoltán Tándor,1 Attila Jakab,1 Tamás Deli1 1Department of Obstetrics and Gynecology, Faculty of Medicine, University of Debrecen, Debrecen, H-4032, Hungary; 2Department of Pediatrics, Faculty of Medicine, University of Debrecen, Debrecen, H-4032, HungaryCorrespondence: Beáta Vida, Department of Obstetrics and Gynecology, Faculty of Medicine, University of Debrecen, Nagyerdei krt. 98, Debrecen, H-4032, Hungary, Tel +36204451350, Email vida.beata@med.unideb.huAim: Turner syndrome (TS) is one of the most common genetic diseases in females, with typical physical features and comorbidities. Karyotype-phenotype associations and clinical significance of childhood versus adolescent/adulthood diagnosis are conflicting.Purpose: Determining the role of certain TS karyotypes and early (< 12 years of age) vs late (≥ 12 years) diagnosis in TS-specific phenotype and comorbidity penetrance.Patients and Methods: Retrospective analysis of baseline characteristics and 45 TS-specific features and comorbidities of 75 TS patients were diagnosed between 2009 and 2019 and followed-up until 2023 in our tertiary care center.Results: Thirteen different karyotypes were detected: 45,X,inv(10), 45,X,inv(9)(15), 45,X, 46,X,i(Xq), 46,X,del(Xp), 46,XX,del(X)q21, 45,X/46,X,del(X), 45,X/46,X,+mar, 45,X/46,X,rX, 45,X/46,XX, 45,X/46,XY, 45,X/47,XXX, 46,X,i(Xq)/47,XX,i(Xq). The classic karyotype with 45X monosomy showed an increased risk for hypertrichosis (28.6% vs 7.5%, OR 4.93, 95% CI [1.23– 19.73]), pterygium colli (34% vs 12%, OR 3.65, 95% CI [1.13– 11.75]) and short stature (91% vs 75%, OR 3.56 [0.89– 14.17]. Mosaic karyotypes had a smaller risk of pterygium colli (OR 0.28 [0.073– 1.092]) and short stature (OR 0.29 [0.086– 1.026]. 45X/46XX mosaicism was associated with an increased risk of hypertension (33% vs 6%, OR 7.75 [1.39– 43.08]), and the presence of the iso (Xq) chromosome increased the risk of celiac disease (28% vs 3%, OR 13.2 [1.52– 114.52]). 44/75 (58.6%) of the cohort were diagnosed at < 12 years of age. In the < 12-year-old diagnosis group, facial dysmorphism and low hairline, (OR 3.30, [1.26– 8.65]), low-set ears (OR 2.51 [0.98– 6.46]), and breasts abnormalities (OR 4.71 [1.72– 12.83]), short stature (OR 4.09 [1.13– 14.82]) and GH therapy (OR 4.93 [1.31– 16.01]) occurred more frequently. If diagnosed < 12 years, patients had a decreased risk of hepatosplenomegaly (OR 0.10 [0.02– 0.50]) and hypertension (OR 0.097 [0.01– 0.85]).Conclusion: TS patients should be handled as a heterogenous group, as they seem to differ in the penetrance of phenotypical features of the disease and the risk of comorbidities depending on karyotype and age at diagnosis.Keywords: turner-syndrome, karyotype-phenotype association, comorbidities, mosaicism, incomplete penetrance, premature ovarian insufficiency
Document Type: article
File Description: electronic resource
Language: English
ISSN: 1178-704X
Relation: https://www.dovepress.com/associations-of-karyotype-and-age-at-diagnosis-with-physical-features--peer-reviewed-fulltext-article-TACG; https://doaj.org/toc/1178-704X
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  Data: Be&#225;ta Vida,1 Olga T&#246;r&#246;k,1 Enik&amp;odblac; Felszeghy,2 M&#243;nika Orosz,1 Zo&#225;rd Tibor Krasznai,1 Zolt&#225;n T&#225;ndor,1 Attila Jakab,1 Tam&#225;s Deli1 1Department of Obstetrics and Gynecology, Faculty of Medicine, University of Debrecen, Debrecen, H-4032, Hungary; 2Department of Pediatrics, Faculty of Medicine, University of Debrecen, Debrecen, H-4032, HungaryCorrespondence: Be&#225;ta Vida, Department of Obstetrics and Gynecology, Faculty of Medicine, University of Debrecen, Nagyerdei krt. 98, Debrecen, H-4032, Hungary, Tel +36204451350, Email vida.beata@med.unideb.huAim: Turner syndrome (TS) is one of the most common genetic diseases in females, with typical physical features and comorbidities. Karyotype-phenotype associations and clinical significance of childhood versus adolescent/adulthood diagnosis are conflicting.Purpose: Determining the role of certain TS karyotypes and early (&lt; 12 years of age) vs late (≥ 12 years) diagnosis in TS-specific phenotype and comorbidity penetrance.Patients and Methods: Retrospective analysis of baseline characteristics and 45 TS-specific features and comorbidities of 75 TS patients were diagnosed between 2009 and 2019 and followed-up until 2023 in our tertiary care center.Results: Thirteen different karyotypes were detected: 45,X,inv(10), 45,X,inv(9)(15), 45,X, 46,X,i(Xq), 46,X,del(Xp), 46,XX,del(X)q21, 45,X/46,X,del(X), 45,X/46,X,+mar, 45,X/46,X,rX, 45,X/46,XX, 45,X/46,XY, 45,X/47,XXX, 46,X,i(Xq)/47,XX,i(Xq). The classic karyotype with 45X monosomy showed an increased risk for hypertrichosis (28.6% vs 7.5%, OR 4.93, 95% CI [1.23– 19.73]), pterygium colli (34% vs 12%, OR 3.65, 95% CI [1.13– 11.75]) and short stature (91% vs 75%, OR 3.56 [0.89– 14.17]. Mosaic karyotypes had a smaller risk of pterygium colli (OR 0.28 [0.073– 1.092]) and short stature (OR 0.29 [0.086– 1.026]. 45X/46XX mosaicism was associated with an increased risk of hypertension (33% vs 6%, OR 7.75 [1.39– 43.08]), and the presence of the iso (Xq) chromosome increased the risk of celiac disease (28% vs 3%, OR 13.2 [1.52– 114.52]). 44/75 (58.6%) of the cohort were diagnosed at &lt; 12 years of age. In the &lt; 12-year-old diagnosis group, facial dysmorphism and low hairline, (OR 3.30, [1.26– 8.65]), low-set ears (OR 2.51 [0.98– 6.46]), and breasts abnormalities (OR 4.71 [1.72– 12.83]), short stature (OR 4.09 [1.13– 14.82]) and GH therapy (OR 4.93 [1.31– 16.01]) occurred more frequently. If diagnosed &lt; 12 years, patients had a decreased risk of hepatosplenomegaly (OR 0.10 [0.02– 0.50]) and hypertension (OR 0.097 [0.01– 0.85]).Conclusion: TS patients should be handled as a heterogenous group, as they seem to differ in the penetrance of phenotypical features of the disease and the risk of comorbidities depending on karyotype and age at diagnosis.Keywords: turner-syndrome, karyotype-phenotype association, comorbidities, mosaicism, incomplete penetrance, premature ovarian insufficiency
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        PageCount: 19
        StartPage: 9
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      – SubjectFull: turner-syndrome
        Type: general
      – SubjectFull: karyotype-phenotype association
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