Frasier Syndrome Diagnosed in a 16-Year-Old Girl Presenting for Evaluation of Amenorrhea

摘要

Primary care physicians commonly encountei patients requesting evaluation for primary and secondary amenorrhea In most cases, the etiology can be easily determined by a complete history and physical with some laboratory tests We discuss the interesting presentation and evaluation of amenonhea in a 16-year-old woman with a history of end-stage renal disease resulting from focal segmental glomerulosclerosis. Sequencing of the Wiims tumor-suppressor gene (WT1) gene, located on chromosome Ilpl3, reveaied a mutation confirming the rare diagnosis of Frasier syndrome Ihis article explores the current knowledge of the genetics and clinical presentation of Frasier syndrome and a related allelic disorder, Denys-Drash syndrome As more patients with mutations of the WI1 gene are identified, our understanding of the complex functions of this protein and implications for clinical care will improve