Premature ovarian failure, absence of pubic and axillary hair with de novo 46,X,t(X;15)(q24;q26.3)

Am J Med Genet A. 2010 May;152A(5):1305-9. doi: 10.1002/ajmg.a.33376.

Abstract

We report on an adolescent girl with premature ovarian failure (POF), de novo unbalanced translocation X;15(q24;q26.3) with partial Xq24 duplication, and absence of pubic and axillary hair. Endocrine assessment showed normal adrenal and ovarian function. Chromosomal abnormality was identified by standard cytogenetic methods, array-CGH, and FISH analysis. Mutation analysis showed normal androgen receptor genes. Pubic and axillary hair began developing during estrogen + progesterone therapy. Our patient demonstrates that a distal X-breakpoint involving POF1 locus is able to cause POF without virilization during adolescence.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Child
  • Chromosome Banding
  • Chromosome Breakage
  • Chromosomes, Artificial, Bacterial / genetics
  • Chromosomes, Human, Pair 15 / genetics*
  • Chromosomes, Human, X / genetics*
  • Comparative Genomic Hybridization
  • Female
  • Hair / abnormalities*
  • Hormones / blood
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant, Newborn
  • Pregnancy
  • Primary Ovarian Insufficiency / blood
  • Primary Ovarian Insufficiency / genetics*
  • Pubic Bone*
  • Segmental Duplications, Genomic / genetics
  • Translocation, Genetic*

Substances

  • Hormones