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Related Experiment Videos

Early puberty in Williams syndrome.

E M Cherniske1, L S Sadler, D Schwartz

  • 1Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA. elizabeth.cherniske@yale.edu

Clinical Dysmorphology
|May 13, 1999
PubMed
Summary

Puberty begins earlier in individuals with Williams syndrome (WS), with most males and females reaching key developmental milestones before age 12. This early onset appears to be centrally regulated.

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Area of Science:

  • Endocrinology
  • Genetics
  • Pediatrics

Background:

  • Williams syndrome (WS) is a genetic disorder affecting development.
  • Pubertal timing in WS has not been extensively characterized.

Purpose of the Study:

  • To evaluate pubertal development in children with Williams syndrome.
  • To compare pubertal timing in WS to population norms.

Main Methods:

  • Evaluation of pubertal development in 9 males and 16 females with WS.
  • Assessment of menarche, pubic hair development (Tanner stages), and bone age.

Main Results:

  • Early puberty observed: 90% of females reached menarche and 83% of males reached Tanner III pubic hair before age 12.
  • Normal pubertal sequence and bone age consistent with or exceeding chronological age.

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  • Evidence of central (hypothalamic-pituitary) activation in a subset of subjects.

    • Conclusions:

    • Puberty initiates earlier in individuals with Williams syndrome compared to general population controls.
    • Early puberty in WS is likely driven by central mechanisms, with normal pubertal progression.