Chagoyén MEM, Álvarez MJA, Zúńiga VCI

Language: Spanish
References: 10
Page: 720-724
PDF size: 430.38 Kb.

ABSTRACT

The case report of a 17 years Ecuadorian white adolescent is presented who was born from a normal pregnancy and eutocic delivery. After birth, a genetic study that showed the presence of a X0 Karyotype was carried out, reason why she was diagnosed Turner syndrome. She was operated of hypoplastic aortic arch when she was 3 years with a favorable clinical course. At the present time the patient has short height with ears of low implantation, as well as high implantation of the hair in the back of the neck, flat thorax in shield form, scarce pubic hair and amenorrhea.

REFERENCES

1. Jacobs PA, Betts PR, Cockwell AE, Crolla JA, Mackenzie MJ, Robinson DO, et al. A cytogenetic and molecular reappraisal of a series of patients with Turner's syndrome. Ann Hum Genet. 1990; 54(Pt 3):209-23.

2. Hall JG, Sybert VP, Williamson RA, Fisher NL, Reed SD. Turner's syndrome. West J Med. 1982; 137(1):32-44.

3. Saenger P. Turner's syndrome. N Engl J Med. 1996; 335(23):1749-54.

4. Lippe BM. Turner's syndrome. In: Sperling M. Pediatric endocrinology. 3 ed. Philadelphia: Saunders; 2008.p. 387.

5. Wyss D, DeLozier CD, Daniell J, Engel E. Structural anomalies of the X chromosome: personal observation and review of non-mosaic cases. Clin Genet. 2009; 21(2):145-59.

6. Turner HH. A syndrome of infantilism, congenital webbed neck, and cubits valgus. Endocrinology. 1938; 23:566-74.

7. Morgan T. Turner syndrome: diagnosis and management. Am Fam Physician. 2007; 76(3):405-10.

8. Sybert VP, McCauley E. Turner syndrome. N Engl J Med. 2004; 351(12):1227-38.

9. Frias JL, Davenport ML, the Committee on genetics and section on endocrinology. Health supervision for children with Turner syndrome. Pediatrics. 2003; 111(3):692-702.

10. Pantoja M, Mazzi E. Síndrome de Turner. Rev Soc Bol Ped. 2006; 45:31.