Fenilketonüri ve Puberte Prekoks Birlikteliği: Bir vaka sunumu

Yıl 2020, , 710 - 713, 09.11.2020

Gonca Kılıç Yıldırım , Veysel Nijat Baş

https://doi.org/10.20515/otd.675301

Öz

Fenilketonüri (FKÜ), fenilalanin hidroksilaz enzim aktivitesinin eksikliğinden kaynaklanan zihinsel engelliliğin en yaygın önlenebilir nedenlerinden biridir. Puberte prekoks (PP), kızlarda 8 yaşından önce ve erkeklerde 9 yaşından önce; erken meme gelişimi ve pubik kıllanma ile ileri kemik yaşı gelişimi ile karakterizedir. Bu yazıda PP gelişen fenilketonüri tanılı ve aşırı kilolu 7 yaşında bir kız hasta sunulmaktadır. FKÜ tanısı yenidoğan döneminde plazma amino asit analizi ile doğrulandı. 7 yaşında, PP'nin ilk belirtileri ortaya çıktı (T3). Laboratuvar testleri, luteinize edici hormon 0.36 mIU / mL; folikül uyarıcı hormon 1.1 mIU / mL; estradiol 20 pg / mL; kemik yaşı 9'du. Gonadotropin salgılatıcı hormon stimülasyon testine yanıt, gerçek PP (LH 5.4 mIU / mL; FSH 8 mIU / mL) için karakteristikti. Mevcut bilgilerimize göre, bu birliğin nedeni açık değildir. Bununla birlikte, bu ilişki tesadüfi ya da fazla kiloya ikincil olabilir ve fenilketonüri - iyi / kötü metabolik kontrole ikincil olabilir. FKÜ hastalarında obezite sıklığının artması nedeniyle PP vakalarının daha sık görülebileceği düşünülmektedir.

Anahtar Kelimeler

Fenilketonüri, Puberte Prekoks, Kilo fazlalığı, Obezite

Phenylketonuria and Puberty Precoccious Association; A Case Report

Öz

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.

Anahtar Kelimeler

Phenylketonuria, central puberty precocious, overwight, obesity

Kaynakça

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