Screening of Parents and Siblings of Patients with Thyroid Dysgenesis by Thyroid Function Tests and Ultrasound

Karakoc E., Turan S., Akpinar I., Isguven P., Adal E., Haklar G., ...Daha Fazla

HORMONE RESEARCH, cilt.70, sa.6, ss.329-339, 2008 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 70 Sayı: 6
  • Basım Tarihi: 2008
  • Doi Numarası: 10.1159/000161863
  • Dergi Adı: HORMONE RESEARCH
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.329-339
  • Marmara Üniversitesi Adresli: Evet

Özet

Aims: To investigate the frequency of thyroid dysgenesis (TD) in first-degree relatives of TD cases. Methods: 244 first-degree relatives of 82 TD cases were screened by thyroid ultrasound (USG), T(4), fT(4) and TSH. USG was also performed in 220 unrelated, age- and sex-matched healthy controls to obtain normative data for thyroid volumes. Results: Specific diagnoses of indexes were 35 ectopia, 22 athyreosis, 14 severe hypoplasia, 8 hypoplasia, and 3 hemiagenesis/asymmetric hypoplasia. In 5 of 77 families (6.5%), there were 2 cases with known symptomatic TD. A total of 10 cases made familial symptomatic TD ratio 12% (10/82) in our cohort. Screening of 244 asymptomatic family members did not reveal new cases with overt hypothyroidism. However, low thyroid volume in 15 and slightly elevated TSH in 6 family members and both in 1 family member were detected (7.4% for low thyroid volume, 3.2% for high TSH). Thus, the ratio of affected (symptomatic and asymptomatic) family members among families of TD cases was found to be 8.7%. Conclusions: 12% of TD cases are familial in our cohort. Screening of asymptomatic family members of TD revealed an additional 7.4% mild hypoplasia and 3.2% hyperthyrotropinemia without overt hypothyroidism which points out the importance of genetic factors in pathogenesis. Copyright (C) 2008 S. Karger AG, Basel