Abstract
Galaktoz ve metabolitleri karaciğer, beyin, lens ve böbrek için toksik olup, ovarium gelişimini de bozabildiği gibi tiroid fonksiyonlarını da etkileyebilmektedir. Kolestaz nedeniyle gelen ve galaktozemi tanısı alan olguda normal TSH ve T4düşüklüğü saptanmıştır. Bu olgu galaktozemide galaktoz ve metabolitlerinin tiroid fonksiyonlarını etkileyebildiğini veözellikle yenidoğanlarda tiroksin düşüklüklerinde galaktozemi taramasını hatırlamak gerektiğini vurgulamak için sunulmuştur
Keywords
References
- 1. Holtan J.B, Walter J.H, Tyfield L.A. Galactosemia. In: Scriver C.R, Beaudet A.L, Sly W.S, Vale D. The Metabolic and Molecular Bases of Inherited Disease, 8th ed. Vol. 1. The McGraw-Hill Companies, 2001. p.1562-74.
- 2. Tokatlı A. Galaktozemi taramas›. Katk› Pediatri Dergisi 2000;21:214-23.
- 3. Saka N, Bafl F. Yenido¤an›n Tiroid Hastalıkları. In: Dağoğlu T, Ovalı F, Samancı Neonatoloji, 2000:627-31.
- 4. Gomella TL, Cunningham MD, Eyal FG. Neonatology: Management, Procedures, On-Call Problems, Diseases, and Drugs. 5th ed. Thyroid Disorders, New York 2004. p.585-9.
- 5. Behrman RC, Kliegman RM, Jenson HB. Nelson Textbook of Pediatrics. 17th ed. Disorders of the Thyroid Gland, 2004. p.1870-90.
- 6. Gönç E.N, Yordam N. Çocuk ve adölesanda tiroid hastalıkları. In: Günöz H, Öcal G, Yordam N, Kurtoğlu S. Pediatrik Endokrinoloji, Pediatrik Endokrinoloji ve Oksoloji Derneği yayınları, 2003. p.261-361.
- 7. Segal S: Disorders of galactose metabolism. In Stanbury JB, Wijngaarden JB, Fredrickson, DS, editors: Metabolic basis of inherited disease. McGraw-Hill New York, 1977. p.160-81.
- 8. Kaufman FR, Kogut MD, Donnell GN, Goebelsmann U, March C, Koch R. Hypergonadotropic hypogonadism in female patients with galactosemia. N Engl J Med 1981;304:994-8.
- 9. Berger HM, Vlasveld L, Van Gelderen HH, Ruys JH. Low serum thyroxine concentrations in babies with galactosemia. J Pediatr 1983;103:930-2.
- 10. Von Petrykowski W. Galactosemia and hypothyroidism. J Pediatr 1984;105:509.
- 11. Campbell S, Kulin HE. Transient thyroid binding globulin deficiency with classic galactosemia. J Pediatr 1984;105:335-6.
Abstract
Galactose and its metabolites may alter thyroid functions and development of ovaries while being toxic for liver, brain, lens, and kidney. Normal TSH and low T4 levels were detected in a patient who presented with cholestasis and diagnosed as galactosemia. This case was reported to emphasize that galactose and its metabolites may alter thyroidfunctions in galactosemia and that there is a need to consider screening for galactosemia in hypothyroxinemia particularly in newborns
Keywords
References
- 1. Holtan J.B, Walter J.H, Tyfield L.A. Galactosemia. In: Scriver C.R, Beaudet A.L, Sly W.S, Vale D. The Metabolic and Molecular Bases of Inherited Disease, 8th ed. Vol. 1. The McGraw-Hill Companies, 2001. p.1562-74.
- 2. Tokatlı A. Galaktozemi taramas›. Katk› Pediatri Dergisi 2000;21:214-23.
- 3. Saka N, Bafl F. Yenido¤an›n Tiroid Hastalıkları. In: Dağoğlu T, Ovalı F, Samancı Neonatoloji, 2000:627-31.
- 4. Gomella TL, Cunningham MD, Eyal FG. Neonatology: Management, Procedures, On-Call Problems, Diseases, and Drugs. 5th ed. Thyroid Disorders, New York 2004. p.585-9.
- 5. Behrman RC, Kliegman RM, Jenson HB. Nelson Textbook of Pediatrics. 17th ed. Disorders of the Thyroid Gland, 2004. p.1870-90.
- 6. Gönç E.N, Yordam N. Çocuk ve adölesanda tiroid hastalıkları. In: Günöz H, Öcal G, Yordam N, Kurtoğlu S. Pediatrik Endokrinoloji, Pediatrik Endokrinoloji ve Oksoloji Derneği yayınları, 2003. p.261-361.
- 7. Segal S: Disorders of galactose metabolism. In Stanbury JB, Wijngaarden JB, Fredrickson, DS, editors: Metabolic basis of inherited disease. McGraw-Hill New York, 1977. p.160-81.
- 8. Kaufman FR, Kogut MD, Donnell GN, Goebelsmann U, March C, Koch R. Hypergonadotropic hypogonadism in female patients with galactosemia. N Engl J Med 1981;304:994-8.
- 9. Berger HM, Vlasveld L, Van Gelderen HH, Ruys JH. Low serum thyroxine concentrations in babies with galactosemia. J Pediatr 1983;103:930-2.
- 10. Von Petrykowski W. Galactosemia and hypothyroidism. J Pediatr 1984;105:509.
- 11. Campbell S, Kulin HE. Transient thyroid binding globulin deficiency with classic galactosemia. J Pediatr 1984;105:335-6.
Details
| Primary Language | Turkish |
|---|---|
| Journal Section | Case Report |
| Authors | |
| Publication Date | September 1, 2007 |
| Published in Issue | Year 2007 Volume: 5 Issue: 2 |