Growth and Ovarian Function in Girls with 48,XXXX Karyotype - Patient Report and Review of the Literature

@article{Rooman2002GrowthAO,
  title={Growth and Ovarian Function in Girls with 48,XXXX Karyotype - Patient Report and Review of the Literature},
  author={Raoul Rooman and K. Van Driessche and M. D. Du Caju},
  journal={Journal of Pediatric Endocrinology and Metabolism},
  year={2002},
  volume={15},
  pages={1051 - 1056}
}
The loss of an X chromosome results in short stature and often in primary ovarian failure, but the effect of extra X chromosomes is less clear, especially in 48,XXXX women. We report a girl with a 48,XXXX karyotype with tall stature (181.8 cm), primary ovarian failure and low DHEAS levels. A review of the literature shows that, apart from an intellectual deficit, the phenotype is very heterogeneous. The few data that are available in the literature indicate that tall stature and primary ovarian… Expand
Premature ovarian failure due to tetrasomy X in an adolescent girl
Chromosomal abnormalities in women with premature ovarian failure
  • P. Artini, M. Ruggiero, +4 authors A. Genazzani
  • Medicine
  • Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology
  • 2010
Premature Ovarian Failure
Primary gonadal failure.
48, XXXX, A Rare Aneuploidy
L’insuffisance ovarienne prématurée
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