Abstract
The purpose of this report is to discuss the differential diagnosis of delayed puberty in the adolescent female with chronic renal failure. The appropriate therapy varies depending on the etiology of the delay. Frasier syndrome — chronic renal failure with true gonadal dysgenesis — should be considered in the diagnosis of a normal phenotypic female with end-stage renal disease and delayed puberty.
Similar content being viewed by others
References
Bailey WA, Zwingman TA, Reznik VM, Griswold WR, Mendoza SA, Jones KL, Freidenberg GR (1992) Renal failure and primary hypogonadism associated with a 46 XX karyotype. Am J Dis Child 146:1218–1223
Frasier SD, Bashore RA, Mosier HD (1964) Gonadoblastoma associated with pure gonadal dysgenesis in monozygous twins. J Pediatr 64:740–745
Blanchet P, Daloze P, Lesage R, Papas S, Van Campenhout J (1977) XY gonadal dysgenesis with gonadoblastoma discovered after kidney transplantation. Am J Obstet Gynecol 129:221–222
Harkins PG, Haning RV, Shapiro SS (1980) Renal failure with XY gonadal dysgenesis: report of the second case. Obstet Gynecol 56: 751–752
Simpson JL, Changantl RSK, Mouradian J, German J (1982) Chronic renal disease, myotonic dystrophy, and gonadoblastoma in XY gonadal dysgenesis. J Med Genet 19:73–76
Haning RV, Chesney RW, Moorthy AV, Gilbert EF (1985) A syndrome of chronic renal failure and XY gonadal dysgenesis in young phenotypic females without genital ambiguity. Am J Kidney Dis 6: 40–48
Kinberg JA, Angle CR, Wilson RB (1987) Nephropathy-gonadal dysgenesis, type 2: renal failure in three siblings with XY dysgenesis in one. Am J Kidney Dis 9:507–510
Thomalla JV (1990) Chronic renal failure in an obese adolescent. Hosp Pract [Off] 25:128–133
Pallister PD, Opitz JM (1979) The Perreault syndrome: autosomal recessive ovarian dysgenesis with facultative, non-sex-limited sensorineural deafness. Am J Med Genet 4:239–246
Hamet P, Kuchel O, Nowacynski W, Rojo-Ortega JM, Sasaki C, Genest J (1973) Hypertension with adrenal, genital, renal defects and deafness. Arch Interm Med 131:563–569
Swyer G (1955) Male pseudohermaphroditism: a hereto undescribed form. BMJ 2:709–712
Damiani D, Billerbeck AE, Golberg AC, Setian N, Fellous M, Kalil J (1990) Investigation of the ZFY gene in XX true hermaphroditism and Swyer syndrome. Hum Genet 85:85–88
Oertel PJ, Lichtwald K, Häfner S, Rauh W, Schönberg D, Schärer (1983) Hypothalamo-pituitary-gonadal axis in children with chronic renal failure. Kidney Int 24:S34-S39
Gomez F, De la Cueva R, Wauters JP, Lemarchand-Beraud T (1980) Endocrine abnormalities in patients undergoing long-term hemodialysis. Am J Med 68:522–530
Handelsman DJ (1985) Hypothalamic-pituitary gonadal function in renal failure, dialysis and renal transplantation. Endocr Rev 6: 151–182
Scully RE (1970) Gonadoblastoma. A review of 74 cases. Cancer 25: 1340–1356
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Reznik, V.M., Mendoza, S.A. & Freidenberg, G.R. Evaluation of delayed puberty in the female adolescent with chronic renal failure. Pediatr Nephrol 7, 551–553 (1993). https://doi.org/10.1007/BF00852544
Received:
Revised:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF00852544