Premature ovarian failure in a woman with a balanced 15;21 translocation: a case report

We present a case of premature ovarian failure in a 27-year-old infertile Kurdish Iranian woman with a Robertsonian 15;21 translocation.The diagnosis of premature ovarian failure of unknown etiology, but with karyotypic evidence of a balanced autosomal translocation, suggests the possible role of autosomal genes in the pathogenesis of ovarian follicular attrition.A significant family history of early menopause is found in about 5% of cases of premature ovarian failure (POF) [1]. To determine the underlying basis of POF, genetic causes with a range of proposed loci are currently under investigation. Out of every 900 babies, one is born with a Robertsonian translocation (cited for the first time in 1964 by Gustavsson and Ingemar), showing that this translocation is the most common, significant and recurrent structural rearrangement known in man.Our patient, a 27-year-old Iranian Kurdish woman under evaluation for infertility, had experienced secondary amenorrhea from the age of 24. She had received hormonal replacement for the past three years, which resulted in cyclical bleeding, but she remained anovulatory. The Karyotype of the proband showed a translocation between chromosomes 21 and 15:45,XX,t (21;15).She had regular menstruation cycles from the age of 13 until 21 years of age. Her height and weight were in the 90th and 50th percentiles, respectively, and she had a body mass index of 21 kg/m2. Her arm span to height and upper to lower segment ratios were both normal. With regard to her pubertal status, she was Tanner V for pubic hair and Tanner IV for breast growth. Her genitalia were normal and she had no virilized or dysmorphic features. Her intellectual capacity was in the normal range and she had a full-time career as a teacher.No positive family history was noted regarding premature menopause, infertility and subfertility, smoking, chemotherapy, radiation or autoimmune diseases. The results of cytogenetic and molecular studies using polymerase chain reaction