Thyroid Dysfunction in Down syndrome Patients; Clinical and Chromosomal Correlation

Abstract

Objective: Autoimmune diseases are known to occur in people with Down syndrome, especially the hypothyroidism. The main objectives of the present study were to estimate the frequency of abnormal thyroid function in Down syndrome patients and to assess their relation to the age, craniofacial features and the type of chromosomal abnormalities in Duhok province, Iraq.

Materials and Methods: The study included fifty eight patients with Down syndrome; all of them were examined for the presence of the main craniofacial features. Blood samples were collected from them to perform the thyroid function test and the karyotyping for chromosomal analysis. 

Results: Out of 58 patients with Down syndrome, 25(43.11%) had subclinical hypothyroidism. There was no statistical significance between age group and percentage of subclinical hypothyroidism. The most frequent craniofacial feature was the epicanthal folds with a relatively high percentage of subclinical hypothyroidism, but this result was statistically insignificant. Trisomy was the commonest chromosomal abnormality seen in 56(96.56%) patients and only 2(3.45%) were mosaic. No translocation was detected. All the cases of hypothyroidism were numerical chromosomal abnormality of Trisomy 21.

Conclusions: The subclinical hypothyroidism was the commonest thyroid dysfunction seen in Down syndrome patients with no significant differences in all age groups.

Keywords

• Chromosomal abnormalities,Down syndrome,thyroid function

Down Sendromlu Hastalarda Tiroid Disfonksiyonu; Klinik ve Kromozom Korelasyonu

Abstract

Amaç: Otoimmün hastalıkların Down sendromlu kişilerde, özellikle hipotiroidizmde meydana geldiği bilinmektedir. Bu çalışmanın temel amacı, Down sendromlu hastalarda anormal tiroid fonksiyonunun sıklığını tahmin etmek ve Irak, Duhok eyaletindeki yaş, kraniyofasiyal özellikler ve kromozomal anormalliklerin türü ile ilişkilerini değerlendirmektir.

Materyal ve Metot: Çalışmaya Down sendromlu 58 hasta dahil edilmiş; hepsi ana kraniyofasiyal özelliklerin varlığı açısından incelenmiştir. Tiroid fonksiyon testi ve kromozomal analiz için karyotipleme yapmak için olgulardan kan örnekleri alındı.

Bulgular: Down sendromlu 58 hastanın 25'inde (% 43.11) subklinik hipotiroidi vardı. Yaş grubu ile subklinik hipotiroidi yüzdesi arasında istatistiksel anlamlılık yoktu. En sık görülen kraniyofasiyal özellik, nispeten yüksek bir subklinik hipotiroidizm yüzdesine sahip epikantal kıvrımlar olmasına rağmen bu sonuç istatistiksel olarak anlamsızdı. Trizomi 56 (% 96.56) hastada en sık görülen kromozomal anormallik iken olgulardan sadece 2 (% 3.45) mozaikti. Translokasyon tespit edilmedi. Tüm hipotiroidizm vakaları Trizomi 21'in sayısal kromozomal anomalisidir.

Sonuç: Subklinik hipotiroidi, Down sendromlu hastalarda görülen ve tüm yaş gruplarında anlamlı farklılık göstermeyen en yaygın tiroid fonksiyon bozukluğuydu.

Keywords

• Down sendromu,kromozomal anormallikler,tiroid fonksiyonu

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