Association of terminal chromosome 1 deletion with sertoli cell-only syndrome

Am J Med Genet. 1998 Dec 4;80(4):396-8.

Abstract

We report on del(1)(q44), developmental delay, cryptorchidism, and seizure disorder in a 19-year-old man. Endocrinologic evaluation showed delayed puberty and elevated gonadotropins. Testicular biopsy was consistent with Sertoli cell-only syndrome. The case illustrates a previously an unreported manifestation in males with del(1)(q44), and suggests a link between the development of germinal epithelium and genes in the 1q44 area.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 1 / genetics*
  • Developmental Disabilities / genetics
  • Developmental Disabilities / pathology
  • Humans
  • Male
  • Sertoli Cells / pathology*
  • Syndrome