FALLA OVARICA PREMATURA: CAUSAS GENETICAS

We present a case of a 33 year old patient with secondary amenorrhea caused by a premature ovarian failure (FOP) secondary to a Turner's Syndrome in mosaicism. The FOP, defined as hypergonadotropic amenorrhea in patients under 40 years of age, has an incidence between 2-10%. It is caused by different entities among which we can find autoimmune disorders, metabolic and enzymatic defects, infectious diseases, iatrogenic causes, defects in the gonadotropins and genetic causes. The later are responsible for FOP specially in patients under 30 years of age, in whom it is justified to make a cariotipe as part of their study. We describe the characteristics of gonadal dysgenesis, Turner's Syndrome and the functional elements of the X chromosome whose absence alters the gonadal function. We also mention the different mosaicisms described in relation with Turner's Syndrome and its consequences in somatic and gonadal development.