“Retraso en el diagnóstico de amenorrea primaria asociado a sindrome de turner en atencion primaria de salud”

Abstract

Turner syndrome (ST) is a syndromic entity characterized by short stature, gonadal dysgenesis and characteristic phenotypic findings associated with partial or total monosomy of the X chromosome. The first description corresponds to Ullrich in 1930, documenting Henry H. Turner in 1938 seven cases with the syndrome, but it was not until 1959 when CE Ford discovers his genetic base.

The prevalence is estimated at around 1 / 2500-3000 newly born alive, although today it is known that 45X fetuses account for 2% of conceptions, with 99% spontaneous abortions and 1% those that would survive. In fact, the ST is involved in 10% of the losses that occurred during the first trimester of pregnancy.

The present clinical case is about an 18-year-old female patient, referred from the Canelos sub-center for presenting primary amenorrhea and absence of female sexual characteristics at the Puyo General Hospital for specialty evaluation, within the required examinations a karyotype is obtained: female 45, xo corresponding to Turner syndrome. The conclusion of the case is given in a diagnosis of Turner syndrome which will proceed to the induction of sexual characteristics with replacement therapy, in addition to coadjuvant treatment for possible comorbidities along with genetics and internal medicine.