Descriptive analyses of Turner syndrome: 49 cases in Tunisia

Elleuch, Mouna; Feki, M. Mnif; Kammoun, Manel; Charfi, Nadia; Rekik, N.; Bouraoui, Abderrahman; Kammoun, T.; Belguith, Neila; Kammoun, H.; Sfar, Mohamed Tahar; Hachicha, M.; Abid, M.

doi:10.1016/j.ando.2009.12.013

Cited by 13 publications

(13 citation statements)

References 26 publications

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“…Our cytogenetic analyses of 65 TS patients corroborated, in general, previously reported data (Held et al, 1992;Schoemaker et al, 2008;Djordjević et al, 2010;Elleuch et al, 2010). However, our patient sample had only one case (1.5%) of mosaicism with a normal cell line (46,XX), which is significantly lower than frequencies described in the literature (8 to 17%).…”

Section: Discussioncontrasting

confidence: 35%

“…Other karyotypes with structural changes in the X chromosome are present in approximately 30% of cases, including isochromosome of the long arm, deletion of the short arm or ring chromosomes, either in homogeneous karyotypes or in mosaics with a 45,X cell line (Oliveira et al, 2009;Djordjević et al, 2010;Elleuch et al, 2010). Patients with TS may also have a second cell line with a normal or abnormal Y chromosome in 5 to 6% of cases (Gravholt, 2005).…”

Section: Introductionmentioning

confidence: 99%

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Effect of chromosome constitution variations on the expression of Turner phenotype

Bispo¹,

Santos²,

Burégio-Frota³

et al. 2013

Genet. Mol. Res.

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ABSTRACT. Turner syndrome (TS) is a chronic disease related to haploinsufficiency of genes that are normally expressed in both X chromosomes in patients with female phenotype that is associated with a wide range of somatic malformations. We made detailed cytogenetic and clinical analysis of 65 patients with TS from the region of Recife, Brazil, to determine the effects of different chromosome constitutions on expression of the TS phenotype. Overall, patients with X-monosomy exhibited a tendency to have more severe phenotypes with higher morbidity, showing its importance in TS prognosis. Additionally, we found rare genetic and phenotypic abnormalities associated with this syndrome. To the best of our knowledge, this is the first case of 45,X,t(11;12)(q22;q22) described as a TS karyotype. Turner patients usually have normal intelligence; however, moderate to severe levels of mental retardation were found in 5 TS cases, which is considerate a very uncommon feature in this syndrome.

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Section: Discussioncontrasting

confidence: 35%

Section: Introductionmentioning

confidence: 99%

Effect of chromosome constitution variations on the expression of Turner phenotype

Bispo¹,

Santos²,

Burégio-Frota³

et al. 2013

Genet. Mol. Res.

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“…Karyotypes can, but must not, be mosaics with a second cell line containing a normal or abnormal sex chromosome. Few cases present complex karyotypes including reciprocal translocations between autosomes and derivative X chromosomes (Burégio-Frota et al 2010;Elleuch et al 2010;Paramayuda et al 2012;Zhong and Layman 2012).…”

Section: Introductionmentioning

confidence: 99%

Y chromosome in Turner syndrome: detection of hidden mosaicism and the report of a rare X;Y translocation case

Bispo

Burégio-Frota

Santos

et al. 2014

Reprod. Fertil. Dev.

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Turner syndrome (TS) is a common genetic disorder in females associated with the absence of complete or parts of a second sex chromosome. In 5-12% of patients, mosaicism for a cell line with a normal or structurally abnormal Y chromosome is identified. The presence of Y-chromosome material is of medical importance because it results in an increased risk of developing gonadal tumours and virilisation. Molecular study and fluorescence in situ hybridisation approaches were used to study 74 Brazilian TS patients in order to determine the frequency of hidden Y-chromosome mosaicism, and to infer the potential risk of developing malignancies. Additionally, we describe one TS girl with a very uncommon karyotype 46,X,der(X)t(X;Y)(p22.3?2;q11.23) comprising a partial monosomy of Xp22.3?2 together with a partial monosomy of Yq11.23. The presence of cryptic Y-chromosome-specific sequences was detected in 2.7% of the cases. All patients with Y-chromosome-positive sequences showed normal female genitalia with no signs of virilisation. Indeed, the clinical data from Y-chromosome-positive patients was very similar to those with Y-negative results. Therefore, we recommend that the search for hidden Y-chromosome mosaicism should be carried out in all TS cases and not be limited to virilised patients or carriers of a specific karyotype.

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“…(13) da BH tedavisinin üç yıldan daha uzun süre kullanımı ile TS'li hastaların %62,3'ünde normal boy Z-skoru değerlerine erişilebildiğini bu nedenle erken tedavi başlamanın ve tedaviye devam edilmesinin önemini vurgulamışlardır. Gelişmiş ülkelerde hastalar erken yaşlarda tanı alabilmesine karşın bazı ülkelerde bazı hastalar erişkin döneme kadar tanı alamamaktadırlar (14,15). Bizim hasta grubumuzda hastaneye başvuru ve tanı gecikmesinin nedenlerinden biri hizmet verdiğimiz grubun düşük sosyoekonomik düzeyi olabilir.…”

Section: Discussionunclassified

Response to growth hormone therapy in patients with Turner syndrome

Özgen¹,

Adal²,

Ünüvar³

et al. 2013

Turk Pediatri Ars

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ÖzetAmaç: Turner sendromlu hastalarda, boy kısalığı büyüme hormonu ile tedavi edilebilmektedir. Bu çalışmada Turner sendromlu Türk çocuklarında üç yıllık büyüme hormonu tedavisine yanıtı ve tedavi sırasında büyümeye etki edebilecek etmenlerin değerlendirilmesi amaçlanmıştır. Gereç ve Yöntem: Büyüme hormonu tedavisi almış 46 Turner sendromlu hastanın tıbbi kayıtları geriye dönük olarak incelendi. Karyotip, hastaneye başvuru yaşı, büyüme hormonu tedavisi başlama yaşı, anne ve baba boyları, ayrıca tedavinin başlangıcında, birinci, ikinci ve üçüncü yıllarında, çocuğun boy, ağırlık, yıllık büyüme hızı, büyüme hormonu dozu, kemik yaşı ve öngörülen boy değerleri kaydedildi. Hedef boy Z-skoru ve var olan boy Z-skoru arasındaki fark delta Z-skor olarak ifade edildi. Bulgular: Hastaneye başvuru yaşı 10,2±3,8 yıl, tedavi başlangıç yaşı 11,54±3,03 yıl ve hedef boy 157,0±6,0 cm idi. Tedavinin başlangıcında, birinci, ikinci ve üçüncü yılında boy Z-skoru sırasıyla -3,76±1,00, -3,37±1,01, -2,99±0,97, -2,82±1,01 olarak saptandı, yıllık büyüme hızı ise yine sırasıyla 3,24±1,05, 6,53±1,52, 5,77±1,53, 5,19±1,25 cm idi. Birinci yıl büyüme hızı ile tedavi başlangıcındaki kronolojik ve kemik yaşı, delta Z-skor ve baba boyu ile negatif ilişki, büyüme hormonu dozu ile arasında ise pozitif ilişki saptandı. Çoklu regresyon analizlerinde birinci yıl büyüme hızına etki eden en önemli etmenin tedavi başlangıç yaşı ve büyüme hormonu dozu olduğu görüldü. Çıkarımlar: Birinci yıl büyüme hızını etkileyen etmenler; tedavi başlangıç yaşı, büyüme hormonu dozu ve delta Z-skor olarak saptandı. Bu çalışma tanı sonrası çok kısa bir sürede tedavi başlanmasının önemli olduğunu göstermektedir. (Türk Ped Arfl 2013; 48: 294-8) Anahtar sözcükler: Büyüme hormonu, tedavi, Turner sendromu Summary Aim: Short stature, a common feature of Turner syndrome, may be treated effectively by recombinant human growth hormone (rhGH). In this study we aimed to evaluate response to rhGH in the first three years of therapy. Material and Method: Medical records of 46 girls with Turner syndrome treated with rhGH were evaluated retrospectively. Karyotypes, age of admission to the hospital, age of the beginning of rhGH therapy, the height of the mother and father were recorded. Data including, height and weight, growth velocity, dose of rhGH therapy, bone age and predicted height of subjects at the beginning, after first, second and thirds years of rhGH therapy were recorded. Difference between target height Z-score and height Z-score is defined as delta Z-score. Results: Age of admission to hospital, age of beginning of rhGH therapy, target height were 10.2±3.8 years, 11.54±3.03 years and 157.0±6.0 cm respectively. Height Z-score at the beginning, at the end of first, second and thirds year of therapy were -3.76±1.00, -3.37± 1.01, -2.99±0.97, -2.82±1.01 respectively and growth velocity were 3.24±1.05, 6.53±1.52, 5.77±1.53, 5.19±1.25 cm/per year respectively. Bivariate correlation analyzes have revealed that at the first year of therapy growth velocity was correlated negatively w...

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Descriptive analyses of Turner syndrome: 49 cases in Tunisia

Cited by 13 publications

References 26 publications

Effect of chromosome constitution variations on the expression of Turner phenotype

Effect of chromosome constitution variations on the expression of Turner phenotype

Y chromosome in Turner syndrome: detection of hidden mosaicism and the report of a rare X;Y translocation case

Response to growth hormone therapy in patients with Turner syndrome

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