Short stature and insulin-like growth Factor-I in neurofibromatosis Type I

Short stature and insulin-like growth Factor-I in neurofibromatosis Type I

Aim: Certain NF1 patients have short stature due to unclear pathogenesis mechanisms. The aim of this study is to investigate endocrinology parameters which could affect height in NF1. Materials and Methods: Clinical data of 48 NF1 patients aged 19 months to 18 years were collected by reviewing medical records. Current physical examination findings including height, weight, and pubertal status were recorded. Serum samples were obtained from all subjects for follicle stimulating hormone (FSH), luteinizing hormone (LH), thyroid stimulating hormone (TSH), free T4 (FT4), free T3 insulin-like growth factor (IGF1), and insulin-like growth binding protein3 (IGFBP3) levels. Results: Of the 48 patients, 34 (70%) had height below 50 percentiles. Short stature, defined as height

___

  • 1. Littler M, Morton NE. Segregation analysis of peripheral neurofibromatosis. J Med Genet 1990;27:307-10.
  • 2. McKeever K, Shephered WS, Crawfold H, et al. An epidemiological, clinical and genetic survey of Neurofibromatosis type 1 in children under sixteen years of age. Ulster Med J 2008;77:160-3.
  • 3. Szudek J, Birch P, Friedman JM. Growth in North American white children with neurofibromatosis type I. J Med Genet 2000;37:933-8.
  • 4. Carmi D, Shohat M, Metzker A, Dickerman Z. Growth, puberty, and endocrine functions in patients with sporadic or familial neurofibromatosis type 1: a longitudinal study. Pediatrics 1999;103:1257-62.
  • 5. Vassilopoulou-Sellin R, Klein MJ, Slopis JK. Growth hormone deficiency in children with neurofibromatosis type I without suprasellar lesions. Pediatr Neurol 2000;22:355-8.
  • 6. Hegedus B, Yeh TH, Lee DY, et al. Neurofibromin regulates somatic growth through the hypotalamicpituitary axis. Human Molecular Genetics 2008;17:2956-66.
  • 7. Clementi M, Milani S, Mammi I, et al. Neurofibromatosis type I growth charts. Am J Med Genet 1999;87:317- 23.
  • 8. Virdis R, Street ME, Bandello MA et al. Growth and pubertal disorders in neurofibromatosis type I. J Pediatr Endocrinol Metab 2003;16:289-92.
  • 9. National Institutes of Health Consensus Development Conference. Neurofibromatosis conference statement. Arch Neurol 1988;45:575-8.
  • 10. Goudman DH, Aylsworth A, Carey JC, et al. The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA 1997; 278:51-7.
  • 11. Neyzi O, Gunoz H, Furman A, et al. Body weight, height, head circumference and body mass index reference values in Turkish children. J Child Health and Diseases 2008;51:1-14.
  • 12. Nellhaus G. Head circumference from birth to eighteen years. Practical composite international and interracial graphs. Pediatrics 1968;41:106-14.
  • 13. Needleman RD: Growth and Development. In: Behrman RH, Kliegman RM, Jenson HB, (eds) Nelson Textbook of Pediatrics. Philadelphia, Pennsylvania: W.B. Saunders Company 2000;23-65.
  • 14. Soucy EA, van Oppen D, Nejedly LN, et al. Height assessments in children with Neurofbromatosis type 1. J Child Neurology 2012;28:303-7.
  • 15. Wood KA, Cobacho-Hubner C, Savage MO, et al. Intrauterine growth retardation and postnatal growth failure associated with deletion of insulin-like growth factor I gene. New Eng J Med 1996;335:1363-7.
  • 16. Beckeljauw PF, Dattani MT, Cohen P, et al. Disorders of growth hormone/insulin like growth factor secretion and action. In: Sperling MA (ed): Pediatric Endocrinology: third edition, Saunders Elsevier Inc; Philadelphia, Pennsylvania 2014;292-404.
Annals of Medical Research-Cover
  • Yayın Aralığı: 12
  • Yayıncı: İnönü Üniversitesi Tıp Fakültesi
Sayıdaki Diğer Makaleler

Triage and management of probable Covid-19 patients in the intensive care unit during the pandemic period

Tugba Yanik Yalcin, Fatma Irem Yesiler, Helin Sahinturk, Pinar Zeyneloglu, Tunay Kandemir, Ender Gedik, Emre Kandemir, Nursultan Akmatov

Awareness of cervical cancer, human papilloma virus (HPV) and HPV vaccination among women in a cancer screening, early diagnosis and education center

Ruhusen Kutlu, Mehmet Ali Eryilmaz, Merve Erdogan, Fatma Goksin Cihan

The relationship with age and gender of intracranial physiological calcifications: A study from Corum, Turkey

Murat Kiraz

Predictive value of platelet lymphocyte ratio in carbon monoxide poisoning

Kivanc Karaman, Hamit Hakan Armagan

Short and long-term follow-up after coronary artery bypass surgery or percutaneous coronary intervention among elderly patients with multivessel disease

Kamran Musayev, Firdovsi Ibrahimov, Isfendiyar Ismayilov, Oktay Musayev, Shahana Elesgerli, Tofik Cahangırov, Ferid Aliyev

Dose dependent cytotoxic activity of patulin on neuroblastoma, colon and breast cancer cell line

Songul Unuvar, Seyma Yasar, Nese Basak Turkmen, Hande Yuce, Dilan Askin Ozek, Sumeyye Aslan

Is there a role of antisperm antibodies in women with unexplained infertility - a Turkish pilot cross sectional case control study

Cuma Mertoglu, Can Turkler, Pasa Ulug, Nahit Ata

The chromosomal abnormalities associated defects and outcomes of fetuses diagnosed prenatally with clubfoot

Mehmet Obut, Sevki Celen, Harun Egemen Tolunay, Ozge Yucel Celik, Neval Cayonu Kahraman, Ozgur Arat, Merve Ozlu Unal

A retrospective comparison of olecranon osteotomy and paratricipital approach in treatment of distal humerus intra-articular fractures

Sinan Yilar, Muhammed Çağatay Engin, Murat Topal, Mehmet Kose, Gurkan Iden

Can the 50-g oral glucose tolerance test predict macrosomia and large for gestational age in pregnant women without gestational diabetes?

Erdem Sahin, Yusuf Madendag