Premature ovarian failure with a deletion in the long arm of chromosome: report of two cases and review of the literature - Revista Brasileira de Ginecologia e Obstetrícia

Premature ovarian failure may be idiopathic or associated with several autoimmune and genetic disorders as X chromosome deletions. We report two cases of preamture ovarian failure associated with a deletion in the long arm of X chromosome. Both patients were nulligravidas presenting secondary amenorrhea and complaints of infertility, without family history of premature ovarian failure and reporting normal puberal development. Their karyotypes showed deletions of the distal long arm of all X chromosomes and were 46,X, del(Xq22) and 46,X, del(Xq13q28), respectively. After the diagnosis the patients decided to be submitted to an in vitro fertilization with egg donation.