416 MULLERIAN AGENESIS AND GONADAL ABNORMALITY MISDIAGNOSED AS DELAYED PUBERTY IN A WOMAN WITH FANCONI'S ANEMIA

• Published in: Journal of investigative medicine 2006-01, Vol.54 (1), p.S151-S151
• Main Authors: Sloan, A. L., Colleran, K.
• Format: Article
• Language: English
• ISSN: 1081-5589; 1708-8267
• DOI: 10.2310/6650.2005.X0004.415

Fanconi's anemia is an autosomal recessive marrow-failure disorder causing pancytopenia combined with a diversity of physical anomalies. Endocrine abnormalities are common. The disorder involves abnormal chromosome fragility, which can be corrected by fusing normal cells with Fanconi's anemia cells. Fanconi's anemia genes have been identified. Genes on chromosomes 16 and 9 are known to be associated with gonadal abnormalities. Though more common in males, these abnormalities also occur in females and include abnormalities of the ovaries, vagina, and uterus. An 18-year-old woman with a past medical history significant for Fanconi's anemia treated with stem cell transplant and total body irradiation presented for evaluation of primary amenorrhea. Despite oral contraceptive treatment for delayed puberty, she had not menstruated. She was concerned about her fertility and expressed the desire to become pregnant. Her complicated past medical history included chronic graft versus host disease and multiple genetic anomalies classically seen in Fanconi's anemia, such as short stature, absent thumb, absent kidney, and absent eustachian tube. In addition to delayed puberty, her endocrine abnormalities included hypopituitarism and insulin resistance. Physical exam revealed a short vaginal pouch. Ultrasound and MRI of the pelvis were obtained and revealed absent uterus, cervix, ovaries, and fallopian tubes. This case describes a woman with Fanconi's anemia with not only an ovarian abnormality but also a rare mullerian agenesis. Physicians treating patients with Fanconi's anemia should maintain a high suspicion for reproductive anomalies. Early diagnosis is optimal to allow for estrogen supplementation and to prevent the emotional trauma associated with delayed puberty and sterility.