A rare case of 46XX,t(X;11)(q24;q23.3) with premature ovarian insufficiency

Abstract

Here, we report a rare case of chromosomal abnormality with translocation between bands Xq24 and 11q23.3 leading to premature ovarian insufficiency (POI). POI can occur due to various causes. Studies have shown that 10%–12% of women with POI have chromosomal abnormalities. This patient presented to us with secondary amenorrhea for the past 3 years. She had attained menarche at 13 years and had regular menstrual cycles for 9 years before suffering from secondary amenorrhea. She had no family history of POI. Her karyotype revealed 46XX,t(X;11)(q24;q23.3). Other investigations showed hypoestrogenism, raised follicle-stimulating hormone, low volume ovaries, small sized uterus, and cholelithiasis. Laparoscopic cholecystectomy was done along with pelvic laparoscopy and hysteroscopy. Sequential estrogen and progesterone was given to the patient for 3 months. Following that, in vitro fertilization with oocyte donation was done which resulted into positive beta-human chorionic gonadotropin.