Frasier syndrome: a rare cause of delayed puberty

W K Y Chan, K F To, W M But, K W Lee
2006 Hong Kong Medical Journal  
We report on a post-renal transplant patient who presented with delayed pubertal development at the age of 15 years. She had a normal female phenotype. Blood analysis showed hypergonadotropic hypogonadism. Her karyotype was 46,XY. DNA analysis showed a heterozygous mutation in the WT1 gene (C to T mutation at position +4 of the splice donor site within intron 9). A diagnosis of Frasier syndrome was made and she underwent laparoscopic gonadectomy. This case illustrates that, while delayed
more » ... is common in children with chronic illness, clinicians should be particularly aware of the possibility of Frasier syndrome in those with progressive glomerulopathy and delayed puberty. DNA analysis is a useful means of confirming the diagnosis.
pmid:16760553 fatcat:xwtkpteprjdxvmc4aavbluok6a