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Related Experiment Videos

Isolated precocious pubarche: an approach

R Balducci1, B Boscherini, A Mangiantini

  • 1Department of Public Health and Cellular Biology, University Tor Vergata, Rome, Italy.

The Journal of Clinical Endocrinology and Metabolism
|August 1, 1994
PubMed
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See all related articles

Precocious pubarche (PP) can signal adrenal enzyme defects like nonclassical 21-hydroxylase deficiency (NC21OHD) or 3 beta-hydroxysteroid dehydrogenase deficiency (NC3HSD). Advanced bone age and basal hormone levels can help identify at-risk children needing further testing.

Area of Science:

  • Pediatric Endocrinology
  • Adrenal Disorders
  • Biochemical Genetics

Background:

  • Precocious pubarche (PP) is often benign but can indicate nonclassical adrenal hyperplasia (NCAH).
  • The incidence of NCAH in PP patients varies, leading to debate on universal ACTH stimulation testing.
  • Identifying children with PP who have underlying adrenal enzyme defects is crucial for appropriate management.

Purpose of the Study:

  • To determine the frequency of mild adrenal enzyme defects in children with isolated PP.
  • To assess if clinical data (bone age) and basal hormone levels can predict risk for adrenal enzymatic defects.
  • To identify patients with mild adrenal enzyme defects who may require treatment.

Main Methods:

  • Studied 171 children with isolated PP and 38 controls.

Related Experiment Videos

  • Administered ACTH stimulation tests with baseline and post-injection hormone measurements.
  • Assessed 17 alpha-Hydroxyprogesterone (17OHP), 17 alpha-hydroxypregnenolone (17PGN), and other adrenal steroids; performed HLA typing for NC21OHD.

    • Main Results:

    • Diagnosed nonclassical 21-hydroxylase deficiency (NC21OHD) in 5.8% and nonclassical 3 beta-hydroxysteroid dehydrogenase deficiency (NC3HSD) in 6.2% of patients.
    • Advanced bone age was observed in 80% of NC21OHD and 71.4% of NC3HSD patients.
    • Basal hormone levels aided NC21OHD detection but not NC3HSD; heterozygotes for 21-hydroxylase deficiency were identified in 11%.

    Conclusions:

    • Mild adrenal enzyme defects are present in a significant minority of children with isolated precocious pubarche.
    • Bone age and basal hormone levels can assist in identifying children with PP who require ACTH stimulation testing.
    • Glucocorticoid treatment was initiated for most patients diagnosed with NC21OHD and one with NC3HSD.