Twenty-eight-year-old female with primary amenorrhea and chronic renal failure: a case of Frasier syndrome?

Frasier syndrome is a very rare developmental disorder of autosomal recessive inheritance. It is characterized by male hermaphroditism, primary amenorrhea, chronic renal failure (CRF), and a number of other abnormalities. A 28-year-old Nigerian female who was considered as a possible case of Frasier syndrome first presented to us in July 2002 with primary amenorrhea, congenital bilateral absence of middle toes, elevated blood pressure, and the uremic syndrome. The management of the case was mainly conservative, including blood pressure control with appropriate antihypertensives. The problems inherent in this index case are discussed while proffering appropriate management approach in a near-ideal situation, which unfortunately is nonexistent in our local environment. The presentation of this case is informed by the need to create awareness about this rare syndrome being a possible cause of CRF in some of our patients.