title: Report of the first case of precocious puberty in Rett syndrome.
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.
authors.forename: Veysel Nijat
authors.initials: VN
authors.lastname: Baş
authors.forename: Semra
authors.initials: S
authors.lastname: Çetinkaya
authors.forename: Sebahat Yılmaz
authors.initials: SY
authors.lastname: Ağladıoğlu
authors.forename: Ayşe
authors.initials: A
authors.lastname: Aksoy
authors.forename: Başak
authors.initials: B
authors.lastname: Gülpınar
authors.forename: Zehra
authors.initials: Z
authors.lastname: Aycan
mesh_terms: D002648:Child; D002657:Child Development / Q000187:drug effects; D018450:Disease Progression; D005260:Female; D007987:Gonadotropin-Releasing Hormone / Q000031:analogs & derivatives / Q000378:metabolism / Q000627:therapeutic use; D006801:Humans; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics; D020125:Mutation, Missense; D010024:Osteoporosis / Q000209:etiology; D011629:Puberty, Precocious / Q000188:drug therapy / Q000209:etiology* / Q000378:metabolism; D015518:Rett Syndrome / Q000235:genetics / Q000503:physiopathology*; D016896:Treatment Outcome
chemical_list: C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D007987:Gonadotropin-Releasing Hormone