Journals / Adnan Menderes Üniversitesi Tıp Fakültesi Dergisi / 2005 / Cilt: 6 - Sayı: 2

Presentation of a case with an association of hypothyroidism and translocation type down syndrome

Translokasyon tipi down sendromlu bir olguda konjenital hipotiroidizm

Pages
35–38
Publication Date
2022-10-10
DOI
—
🏛️Bibliographic metadata and full text access for this article are provided via DergiPark.
DergiPark Record ↗
✨

AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

The case is presented because of the rarity of this type of translocation, and the importance of hypothyroidismamong common findings of DS is emphasized.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:An association between hypothyroidism and translocation type Down syndrome (DS) has been detected in a 42- day-old female baby with facial dysmorphism and low levels of blood thyroid hormones.
📊
Key Findings & Data:An association between hypothyroidism and translocation type Down syndrome (DS) has been detected in a 42- day-old female baby with facial dysmorphism and low levels of blood thyroid hormones.
💡
Conclusion & Impact:The case is presented because of the rarity of this type of translocation, and the importance of hypothyroidismamong common findings of DS is emphasized.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

An association between hypothyroidism and translocation type Down syndrome (DS) has been detected in a 42- day-old female baby with facial dysmorphism and low levels of blood thyroid hormones. The case is presented because of the rarity of this type of translocation, and the importance of hypothyroidismamong common findings of DS is emphasized.

Özet

Dismorfik yüz görünümü ve tiroid hormonu değerlerinde düşüklük saptanan kırk iki günlük kız bebekte; translokasyon tipi Down Sendromu ve hipotiroidi birlikteliği saptandı. Olgu; nadir görülen bir translokasyon bulunması yanısıra, hipotiroidinin, sendromun diğer bulguları arasında gözden kaçırılmaması gerektiğine dikkat çekmek için olgu sunuldu.

🔖

Cite This Article

ÜNÜVAR, T., TEMOÇİN, A. K., TÜRKMEN, M., SOYLU, S., ULUCAN, H. (2022). Presentation of a case with an association of hypothyroidism and translocation type down syndrome. Adnan Menderes Üniversitesi Tıp Fakültesi Dergisi, Cilt: 6 - Sayı: 2, 35–38. https://ajindex.com/articles/429048

📄 Full Text PDF Viewer

📄

PDF görüntüleyici hazırlanıyor...

References (13)

  1. Hall GJ. Chromosomal clinical abnormalities. Behrman R, Kliegman R, Jenson H. Nelson Textbook of Pediatrics 16 th ed. Philadelphia, W.B. Saunders Company, 2000; 328
  2. Jones KL. Smith's Recognizable Patterns of Human Malformation, 4 th ed. Philadelphia, W.B. Saunders Company1988; 10-12
  3. Berend SA, Page SL, AtkinsonW, McCaskill C, Lamb NE, Sherman SL, Shaffer LG. Obligate short arm exchange in de novo Robertsonian translokacation formation influences placement of crossovers in chromosome 21 nondisjunction. Am. J. Hum. Genet. 2003; 72: 488-95
  4. Wald NJ, Kennard A, Hackshaw A. Antenatal screening for Down's syndrome [published erratum appears in J Med Screen 1998;5: 110 and 1998;5(3): 166]. J Med Screen 1997; 4: 181-246 5) Pangalos C, Avramopoulos D, Blouin JL. Understanding the mechanism(s) of mosaic trisomy 21 by using DNA polymorphism analysis [published erratum appears in Am J Hum Genet 1994 Jul;55(1):217].Am J Hum Genet 1994; 54: 473-81
  5. Tonacchera M, Perri A, De Marco G, Agretti P, Montanelli L, Banco, Corrias A, Bellone J, Tosi MT, Vitti P, Martino E, Pinchera A, Chiovato L. TSH receptor and Gs (alpha) genetic analysis in children with Down's syndrome and subclinical hypothyroidism. J Endocrinol Invest. 2003; 26: 997- 1000
  6. Oliveira AT, Longui CA, Calliari EP, Ferone Ede A, Kawaguti FS, Monte O. Evaluation of the hypothalamic-pituitary-thyroid axis in children with Downsyndrome. J Pediatr 2002; 78: 259-60
  7. Sanz J. Down syndrome and hyperthyroidism. Report of3 cases.Rev Med Chil. 1999; 127: 967-9
  8. Kanavin OJ, Aaseth J, Birketvedt GS. Thyroid hypofunction in Down's syndrome: is it related to oxidative stress? Biol Trace Elem Res. 2000; 78: 35-42
  9. Bhowmick SK, Grubb PH. Management of multipleantibody- mediated hyperthyroidism in children with Down's syndrome. South Med J. 1997; 90: 312-5
  10. Tuysuz B, Beker DB. Thyroid dysfunction in children with Down's syndrome.Acta Paediatr. 2001; 90: 1389- 93
  11. Roberts HE, Moore CA, Fernhoff PM, Brown AL, Khoury MJ. Population study of congenital hypotiroidism and associated birth defects,Am. J.Med. Genet. 1997; 71: 29-32
  12. Ali FE, Bayoumy HA, Mohammad AS,Al-Busairi WA, Al-Othman AN. Thyroid function in Kuwaiti subjects with Down's syndrome. Med Princ Pract. 2002; 11: 206-9
  13. Konings CH, van Trotsenburg AS, Ris-Stalpers C. Plasma thyrotropin bioactivity in Down's syndrome children with subclinical hypothyroidism. Eur J Endocrinol. 2001; 144:1-4 15) Rooney S, Walsh E. Prevalence of ab