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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 |
