Revisión bibliográfica actualizada del síndrome Turner

Turner syndrome is characterized by being a genetic disorder exclusive to the female sex that develops in 1 out of 2500 women born alive, with a genotype formula karyotype 45X0 or by haploinsufficiency of the X chromosome. Its diagnosis is made by combining certain phenotypic characteristics associated with a karyotype that reports the total or partial absence of the X chromosome; As a complementary paraclinic, the FISH test is used, in those cases where there is suspicion of mosaics or to confirm small remains of the Y chromosome, which gives it a certain degree of malignancy, since it is a risk factor for developing tumors of the germinal order such as gonadoblastoma. Its clinical presentation is based on the cytogenetic pattern, prevailing with short stature and ovarian failure. The first is generated by the haploinsufficiency of the SHOX gene in the short arm of the X chromosome (Xp) and in the second is attributed to the lack of the ZFX and DFFRX genes located in the long arm of the X chromosome (Xq); the treatment consists of the use of growth hormone and estrogen respectively. ST is associated with an increased risk of presenting clinical manifestations at the cardiovascular, renal, metabolic, endocrine, among others, which can put patients' lives at risk, for which they will require an adequate diagnosis that favors periodic follow-up. by several medical specialties in order to provide timely and relevant treatment.

• Autores: López Velandia, Willington Eduardo
• Tipo de recurso: Trabajo de grado de pregrado
• Fecha de publicación: 2017
• Institución: Universidad de Ciencias Aplicadas y Ambientales U.D.C.A
• Repositorio: Repositorio Institucional UDCA
• Idioma: spa
• OAI Identifier: oai:repository.udca.edu.co:11158/850
• Acceso en línea: https://repository.udca.edu.co/handle/11158/850
• Palabra clave: Síndrome de Turner; Monosomía; Cromosopatía X; Síndrome de Turner -- Bibliografías; Cromosomas sexuales -- Anormalidades -- Bibliografías
• Rights: closedAccess
• License: Derechos Reservados - Universidad de Ciencias Aplicadas y Ambientales