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True precocious puberty associated with phenylketonuria

B Büyükgebiz1, Y Eroğlu, A Büy ukgebiz

  • 1Department of Pediatric Nutrition, Metabolism and Gastroenterology, Medical Faculty of Dokuz Eylül University, Izmir, Turkey.

The Journal of Pediatric Endocrinology
|October 1, 1994
PubMed
Summary

Phenylketonuria (PKU) in a young girl was linked to early puberty signs, including premature thelarche. High phenylalanine levels, from dietary non-compliance, may have triggered this precocious puberty development.

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Area of Science:

  • Pediatric Endocrinology
  • Metabolic Disorders
  • Neuroendocrinology

Background:

  • Phenylketonuria (PKU) is an inherited metabolic disorder requiring strict dietary management.
  • Precocious puberty is defined as the onset of puberty before age 8 in girls.
  • The relationship between metabolic disorders and pubertal development is an area of ongoing research.

Observation:

  • A 7.5-year-old girl with phenylketonuria presented with premature thelarche.
  • Her height and bone age were advanced for her chronological age.
  • Hormonal analysis indicated central precocious puberty.

Findings:

  • Elevated serum phenylalanine levels were noted due to poor adherence to a phenylalanine-restricted diet.
  • The hormonal profile suggested gonadotropin-dependent central precocious puberty.

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  • A potential correlation between hyperphenylalaninemia and the early onset of puberty was observed.

    • Implications:

    • This case highlights a possible link between uncontrolled phenylketonuria and precocious puberty.
    • It underscores the importance of strict dietary compliance in managing PKU.
    • Further research is warranted to elucidate the mechanisms connecting hyperphenylalaninemia and pubertal timing.