Is there thyroid hormone receptor gene mutation in foreskins of hypospadias patients? Hipospadiasli hastalarin sünnet derilerinde tiroid hormonu reseptörü gen mutasyonu var midir?
Cocuk Cerrahisi Dergisi, cilt.32, sa.2, ss.66-70, 2018 (Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 32 Sayı: 2
- Basım Tarihi: 2018
- Doi Numarası: 10.5222/jtaps.2018.066
- Dergi Adı: Cocuk Cerrahisi Dergisi
- Derginin Tarandığı İndeksler: Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.66-70
- Anahtar Kelimeler: Gene mutation, Hypospadias, Thyroid hormone
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Aim: Hypospadias is an anomaly which the urethral meatus opens at any place in the midline on the ventral aspect of the penis, between anus, and tip of the glans penis. Epidermal Growth Factor (EGF) is found in many tissues in humans. Majority of cells have EGF receptors and they are found mostly in epithelial cells. There are various studies indicating that thyroid hormones increase the release of EGF. We thought that decrease in EGF levels in the foreskin of hypospadias patients miay stem from inadequate stimulation of foreskin with thyroid hormones. We planned this study assuming that thyroid hormones can not demonstrate their effectiveness due to any mutation in the receptor present in this tissue. Material and Methods: The patients who applied for circumcision to our polyclinic, and underwent distal hypospadias repair were included in our study. The preputial tissues of 40 normal individuals, and 40 patients who underwent hypospadias repair surgery were used. After approval of the local ethics committee was obtained, the consent of the families of all was acquired. Half of both tissues was sent to the pathology laboratuary for pathological examination and remaining part of the tissues was sent to the genetics laboratory to examine the thyroid hormone gene mutation in the tissue receptores. All tissue samples were evaluated as for presence of thyroglobulin, and criteria of inflammation pathology and genetic analysis results of both groups were compared and evaluated statistically. Results: Ages of the patients ranged between 10 months, and 10 years (median, 4.75 years) idi. All patients in the hypospadias group had distal hypospadias (p>0.05). Tissue samples from both groups were examined pathologically and any intergroup difference. Any genetic mutation was not detected as a result of the genetic analysis of foreskin samples bobtained from both groups (p>0.05). Conclusion: Many factors play a role in the etiology of hypospadia including thyroid hormone and the tissue response to this hormone. It is still not known whether the inadequacy of response given by this tissue or the inadequacy of the amount of hormone reaching tissue is important in this interaction. Thus, we looked at the presence of the thyroid hormone receptor gene mutation in the foreskin that we thought could be an important part of the tissue response. We thought that even if gene mutation is not detected in basic genetic analysis further studies have to be performed to find out the mutations in specific genomic subtypes, while our study is worth evaluating in the light of these studies.