Fenilketonüri ve Puberte Prekoks Birlikteliği: Bir vaka sunumu

Abstract

Phenylketonuria (PKU) is one of the most common preventable causes of intellectual disability resulting from deficiency of phenylalanine hydroxylase enzyme activity. Precocious puberty (PP) is characterized by premature breast and pubic hair development, and advanced bone age development before 8 years of age for girls and 9 years of age for boys. We present a 7 years old girl with phenylketonuria and overweight, who has developed early puberty. PKU was confirmed by plasma amino acid analysis at newborn.At the age of 7, the first signs of PP appeared (T3). Laboratory tests were detected as luteinizing hormone 0.36 mIU/mL; follicule stimulating hormone 1.1 mIU/mL; estradiol 20 pg/mL; and bone age was 9 years. The response to gonadotropin-releasing hormone stimulation test was characteristic for true PP (LH 5.4 mIU/mL; FSH 8 mIU/mL). According to our current knowledge, the reason for this union isn’t clear. However, this association may be incidental or secondary to overweight and may also be secondary to phenylketonuria - good / bad metabolic control. It’s thought that PP cases may be seen more frequently due to the increase of obesity frequency in PKU patients.