Case Report
Year 2020,
Volume: 42 Issue: 6, 710 - 713, 09.11.2020
Abstract
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.
References
- Reference1- Blau N, Van Spronsen FJ, Levy HL. Phenylketonuria. Lancet 2010; 376: 1417–1427.
- Reference2- Blau N, Van Spronsen FJ. Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. Disorders of Phenylalanine and Tetrahydrobiopterin Metabolism. 2014; Part 1, page 3-21.
- Reference3- Loeber JG. Neonatal screening in Europe; the situation in 2004. J Inherit Metab Dis 2007; 30: 430- 438.
- Reference4- Ozalp I, Coskun T, Tokatli A, et al. Newborn PKU screening in Turkey: at present and organization for future. Turk J Pediatr 2001; 43: 97- 101.112.
- Reference5- Carel JC, Leger J. Clinical practice: precocious puberty. N Engl J Med 2008; 358: 2366-2377.
- Reference6- Lee PA, Houk CP. Puberty and its disorders. In: Pediatric Endocrinology Fifth Edition Volume 2 Growth, Adrenal, Sexual, Thyroid, Calcium, and Fluid Balance Disorders 2007, 277-283.
- Reference7- Fahmy JL, Kaminsky CK, Kaufman F, Nelson MD Jr, Parisi MT. The radiological approach to precocious puberty. Br J Radiol 2000, 73: 560–567.
- Reference8- Bickel H, Gerrard J, Hickmans EM. The influence of phenylalanine intake on the chemistry and behaviour of a phenyl-ketonuric child. Acta Paediatr 1954; 43: 64-77.
- Reference9- Acosta PB, Matalon KM. Nutrition management of patients with inherited disorders of aromatic amino acid metabolism. In: Acosta PB, editors. Nutrition Management of Patients with Inherited Metabolic Disorders. Boston: Jones and Bartlett Publishers, 2010: 119-174.
- Reference10- Laura Lucaccioni, Bernd C Schwahn, Malcolm Donaldson and Claudio Giacomozzi. Central precocious puberty in a 3 year-old girl with Phenylketonuria: a rare association? BMC Endocrine Disorders 2014, 14: 38.
- Reference11- Büyükgebiz B, Eroğlu Y, Büyukgebiz A. True precocious puberty associated with phenylketonuria. J Pediatr Endocrinol 1994;7: 361-363.
- Reference12- Christine M. Burt Solorzano Christopher R. McCartney. Obesity and the pubertal transition in girls and boys. Reproduction 2010 Sep; 140: 399–410.
- Reference13- Robertson LV, McStravick N, Ripley S, Weetch E, Donald S, Adam S, Micciche A, Boocock S, Macdonald A: Body mass index in adult patients with diet-treated phenylketonuria. J Hum Nutr Diet 2013; 26: 1–6.
- Reference14- H. Gokmen Ozel, K. Ahring, A. Bélanger-Quintana, K. Dokoupil, A.M. Lammardo, M. Robert, J.C. Rocha, M.F. Almeida, M. van Rijn, A. MacDonald. Overweight and obesity in PKU: The results from 8 centres in Europe and Turkey. Molecular Genetics and Metabolism Reports 1 2014: 483–486.
- Reference15- Rocha JC, van Spronsen FJ, Almeida MF, Soares G, Quelhas D, Ramos E, Guimaraes JT, Borges N: Dietary treatment in phenylketonuria does not lead to increased risk of obesity or metabolic syndrome. Mol Genet Metab 2012; 107: 659–663.
Year 2020,
Volume: 42 Issue: 6, 710 - 713, 09.11.2020
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.
References
- Reference1- Blau N, Van Spronsen FJ, Levy HL. Phenylketonuria. Lancet 2010; 376: 1417–1427.
- Reference2- Blau N, Van Spronsen FJ. Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. Disorders of Phenylalanine and Tetrahydrobiopterin Metabolism. 2014; Part 1, page 3-21.
- Reference3- Loeber JG. Neonatal screening in Europe; the situation in 2004. J Inherit Metab Dis 2007; 30: 430- 438.
- Reference4- Ozalp I, Coskun T, Tokatli A, et al. Newborn PKU screening in Turkey: at present and organization for future. Turk J Pediatr 2001; 43: 97- 101.112.
- Reference5- Carel JC, Leger J. Clinical practice: precocious puberty. N Engl J Med 2008; 358: 2366-2377.
- Reference6- Lee PA, Houk CP. Puberty and its disorders. In: Pediatric Endocrinology Fifth Edition Volume 2 Growth, Adrenal, Sexual, Thyroid, Calcium, and Fluid Balance Disorders 2007, 277-283.
- Reference7- Fahmy JL, Kaminsky CK, Kaufman F, Nelson MD Jr, Parisi MT. The radiological approach to precocious puberty. Br J Radiol 2000, 73: 560–567.
- Reference8- Bickel H, Gerrard J, Hickmans EM. The influence of phenylalanine intake on the chemistry and behaviour of a phenyl-ketonuric child. Acta Paediatr 1954; 43: 64-77.
- Reference9- Acosta PB, Matalon KM. Nutrition management of patients with inherited disorders of aromatic amino acid metabolism. In: Acosta PB, editors. Nutrition Management of Patients with Inherited Metabolic Disorders. Boston: Jones and Bartlett Publishers, 2010: 119-174.
- Reference10- Laura Lucaccioni, Bernd C Schwahn, Malcolm Donaldson and Claudio Giacomozzi. Central precocious puberty in a 3 year-old girl with Phenylketonuria: a rare association? BMC Endocrine Disorders 2014, 14: 38.
- Reference11- Büyükgebiz B, Eroğlu Y, Büyukgebiz A. True precocious puberty associated with phenylketonuria. J Pediatr Endocrinol 1994;7: 361-363.
- Reference12- Christine M. Burt Solorzano Christopher R. McCartney. Obesity and the pubertal transition in girls and boys. Reproduction 2010 Sep; 140: 399–410.
- Reference13- Robertson LV, McStravick N, Ripley S, Weetch E, Donald S, Adam S, Micciche A, Boocock S, Macdonald A: Body mass index in adult patients with diet-treated phenylketonuria. J Hum Nutr Diet 2013; 26: 1–6.
- Reference14- H. Gokmen Ozel, K. Ahring, A. Bélanger-Quintana, K. Dokoupil, A.M. Lammardo, M. Robert, J.C. Rocha, M.F. Almeida, M. van Rijn, A. MacDonald. Overweight and obesity in PKU: The results from 8 centres in Europe and Turkey. Molecular Genetics and Metabolism Reports 1 2014: 483–486.
- Reference15- Rocha JC, van Spronsen FJ, Almeida MF, Soares G, Quelhas D, Ramos E, Guimaraes JT, Borges N: Dietary treatment in phenylketonuria does not lead to increased risk of obesity or metabolic syndrome. Mol Genet Metab 2012; 107: 659–663.
There are 15 citations in total.
Details
| Primary Language | English |
|---|---|
| Subjects | Health Care Administration |
| Journal Section | OLGU SUNUMU |
| Authors | |
| Publication Date | November 9, 2020 |
| Published in Issue | Year 2020 Volume: 42 Issue: 6 |