End-stage renal disease and primary hypogonadism associated with a 46,XX karyotype
W. A. Bailey, T. A. Zwingman, V. M. Reznik, W. R. Griswold, S. A. Mendoza, K. L. Jones and G. R. Freidenberg
Department of Pediatrics, University of California, San Diego, La Jolla.
OBJECTIVE--To determine the cause of absent sexual development in a
17-year-old girl with end-stage renal disease. DESIGN--Case study.
PARTICIPANT--Seventeen-year-old girl with end-stage renal failure.
INTERVENTIONS--None. MEASUREMENTS/MAIN RESULTS--The patient had
phenotypically normal external female genitalia, mullerian duct hypoplasia,
and no ovaries. Her serum gonadotropin levels were in the castrate range at
baseline and after gonadotropin-releasing hormone stimulation. Her
karyotype, in lymphocytes and cultured fibroblasts, was 46,XX. Analysis of
genomic DNA, following polymerase chain reaction-amplication with
oligonucleotide primers corresponding to the Y-encoded zinc finger protein
ZFY and the testis-determining SRY gene, showed Y chromosome material in a
male control but none in the patient. CONCLUSIONS--The results suggest a
diagnosis of Frasier syndrome, a disorder characterized by true gonadal
dysgenesis and end-stage renal disease occurring in normal phenotypic
girls. Although previously reported only in individuals with a 46,XX
karyotype, our studies indicate that Frasier syndrome may also occur in
46,XX girls. Delayed puberty is not uncommon in renal failure. This case
illustrates the importance of measuring gonadotropin levels in teenage
girls with delayed puberty and renal failure, particularly if the origin of
the renal disease is obscure.
