Report of the first case of precocious puberty in Rett syndrome
-
Veysel Nijat Baş
,
Semra Çetinkaya
Abstract
Rett syndrome is an X-linked dominant disorder frequently caused by the mutations in the methyl-CpG-binding protein 2 gene (MECP2). Its prevalence in the population is 1/15,000–20,000. Patients with Rett syndrome present apparently normal psychomotor developments during the first 6–18 months of life. Subsequently, they show a short period of developmental stagnation followed by a rapid regression in language and motor development. Precocious puberty is characterized by premature breast and pubic hair development, and advanced bone age development at 8 years of age. We present a case of Rett syndrome and precocious puberty in a 6-year-old girl. At the age of 6, the first signs of precocious puberty appeared (Tanner stage 3). Laboratory measurements were detected as follows: luteinizing hormone (LH), 0.2 mIU/mL; follicle-stimulating hormone (FSH), 1.1 mIU/mL; estradiol, 36 pg/mL; bone age, 9 years. The response to luteinizing hormone releasing hormone (gonadotropin-releasing hormone stimulation test) was characteristic for true precocious puberty (LH, 32 mIU/mL; FSH, 26 mIU/mL). This is the first reported case of precocious puberty related to Rett syndrome.
References
1. Na ES, Monteggia LM. The role of MeCP2 in CNS development and function. Horm Behav 2011;59:364–8.10.1016/j.yhbeh.2010.05.014Search in Google Scholar PubMed PubMed Central
2. Berberoğlu M. Precocious puberty and normal variant puberty: definition, etiology, diagnosis and current management. J Clin Res Pediatr Endocrinol 2009;1:164–74.10.4274/jcrpe.v1i4.3Search in Google Scholar PubMed PubMed Central
3. Euling SY, Selevan SG, Pescovitz OH, Skakkebaek N. Role of environmental factors in the timing of puberty. Pediatrics 2008;121:167–71.10.1542/peds.2007-1813CSearch in Google Scholar PubMed
4. Partsch CJ, Heger S, Sippell WG. Management and outcome of central precocious puberty. Clin Endocrinol 2002;56:129–48.10.1046/j.0300-0664.2001.01490.xSearch in Google Scholar PubMed
5. Dichter MA, Brodie MJ. New antiepileptic drugs. N Engl J Med 1996;334:1583–90.10.1056/NEJM199606133342407Search in Google Scholar PubMed
6. Verrotti A, Greco R, Latini G, Chiarelli F. Endocrine and metabolic changes in epileptic patients receiving valproic acid. J Pediatr Endocrinol Metab 2005;18:423–30.10.1515/JPEM.2005.18.5.423Search in Google Scholar PubMed
7. Garcia-Rudaz C, Deng V, Matagne V, Ronnekleiv OK, Bosch M, et al. FXYD1, a modulator of Na,K-ATPase activity, facilitates female sexual development by maintaining gonadotrophin-releasing hormone neuronal excitability. J Neuroendocrinol 2009;21:108–22.10.1111/j.1365-2826.2008.01812.xSearch in Google Scholar PubMed PubMed Central
8. Holm VA. Physical growth and development in patients with Rett syndrome. Am J Med Genet Suppl 1986;1:119–26.10.1002/ajmg.1320250513Search in Google Scholar PubMed
9. Saletti V, Canafoglia L, Cambiaso P, Russo S, Marchi M, et al. A CDKL5 mutated child with precocious puberty. Am J Med Genet A 2009;149:1046–51.10.1002/ajmg.a.32806Search in Google Scholar PubMed
©2013 by Walter de Gruyter Berlin Boston
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