Premature Ovarian Insufficiency After Bone Marrow Transplantation for Thalassemia Major in a Patient With Primary Amenorrhea and 46, XY Karyotype: a Case Report and Literature Review

Background: Iatrogenic factor is one of the recognized causes for premature ovarian insufficiency. The aim of this case report was to present a rare case with premature ovarian insufficiency and 46, XY karyotype after bone marrow transplant for thalassaemia major at childhood. We also reviewed some relevant literature in this report. Case presentation: A 17-year-old girl was presented with primary amenorrhea and premature ovarian insufficiency after receiving chemotherapy and bone marrow therapy from her brother due to thalassaemia major at childhood. She had poor secondary sex characteristics, assessed as stage I for the development of breasts and external genitalia based on the Tanner scale. Transabdominal ultrasound showed small uterus with visible endometrial lining and small ovaries. Laboratory data showed hypergonadotropic hypogonadism profile with low level of estrogen and high level of follicular-stimulating hormone (FSH). Patient’s peripheral lymphocytes karyotype was 46, XY. Conclusions: : A correct diagnosis is not only dependent on clinical manifestations, but also the detailed medical history. In light of the relatively high prevalence of thalassemia, fertility preservation should be considered for young girls before they receive chemotherapy, radiation treatment and bone marrow transplant.