Delayed puberty and premature ovarian failure in a seventeen-year-old girl with 46,XX,del(q24)

Abstract

Premature ovarian failure (POF) is a rare medical condition in adolescents. Its common cause is gonadal dysgenesis and an abnormal karyotype. Herein we report a rare case of POF resulting from a deletion in the terminal portion of Xq, 46,XX,del(q24). A 17-year-old girl was referred to our hospital for amenorrhea. Menarche had occurred at age 16 years; since then, irregular menstruation and amenorrhea appeared. She was of normal height, but her bone age was delayed compared to her chronologic age. While her breast development was normal, she had scant pubic hair. Her serum levels of luteinizing hormone and follicle stimulating hormone were 26.83 mIU/mL and 99.36 mIU/mL, respectively. A pelvic ultrasound examination revealed a small uterus and ovaries. Following the initiation of hormone replacement therapy, her menstrual cycle returned. In addition to this case report, we provide a brief review of the X chromosome regions involved in ovarian function.