Pubertal Development in Rett Syndrome Deviates From Typical Females |
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| Institution: | 1. School of Medicine, University of Alabama at Birmingham, Birmingham, Alabama;2. Civitan International Research Center, University of Alabama at Birmingham, Birmingham, Alabama;3. School of Public Health, University of Alabama at Birmingham, Birmingham, Alabama;4. Greenwood Genetic Center, Greenwood, South Carolina;5. Boston Children''s Hospital, Harvard Medical School, Boston, Massachusetts;6. Department of Pediatrics, Baylor College of Medicine, Houston, Texas;1. Department of Molecular and Integrative Physiology;2. Flow Cytometry Core;3. Center for Reproductive Sciences, Institute for Reproductive Health and Regenerative Medicine;4. Department of Pathology and Laboratory Medicine;5. Department of Neurosurgery, University of Kansas Medical Center, Kansas City, KS, 66160, USA;6. Department of Molecular and Structural Biochemistry, North Carolina State University, Raleigh, NC, 27695, USA;1. Department of Psychiatry and Behavioral Sciences, University of Kansas Medical Center, Kansas City, Kansas;2. Departments of Pediatrics and Neurology, Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Nashville, Tennessee;3. Department of Pediatrics, University of South Florida, Tampa, Florida;4. Center for Clinical Research, Texas Heart Institute, Houston, Texas;5. Departments of Pediatrics and Neurology, Baylor College of Medicine, Houston, Texas;6. Vanderbilt Kennedy Center, Departments of Pediatrics, Pharmacology, and Special Education, Vanderbilt University Medical Center, Nashville, Tennessee;7. University of Alabama at Birmingham, School of Medicine, Birmingham, Alabama;8. University of Alabama at Birmingham, Civitan International Research Center, Birmingham, Alabama;9. Greenwood Genetic Center, Greenwood, South Carolina;10. Department of Neurology, Boston Children''s Hospital, Boston, Massachusetts;11. Department of Pediatrics, University of Florida, Gainesville, Florida;12. Division of Genetics and Dysmorphology, Department of Pediatrics, University of California San Diego/Rady Children''s Hospital, San Diego, California;13. Departments of Pediatrics and Special Education, Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Nashville, Tennessee;14. Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, California;15. Division of Genetics and Genomics, Boston Children''s Hospital, Boston, Massachusetts;p. Pediatric Sleep Program, Cohen Children''s Medical Center, New Hyde Park, New York;q. Departments of Pediatrics and Psychiatry & Behavioral Sciences, Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Nashville, Tennessee;1. Department of Neurology, Boston Children''s Hospital, Boston, Massachusetts;2. Department of Psychiatry, Boston Children''s Hospital, Boston, Massachusetts;3. Department of and Radiology, Boston Children''s Hospital, Boston, Massachusetts;1. Roche Pharma Research and Early Development, Neuroscience and Rare Diseases, Roche Innovation Center, Basel, Switzerland;2. Center for Autism Research and Treatment (JF), Semel Institute for Neuroscience & Human Behavior, University of California Los Angeles, Los Angeles, California;3. Department of Pediatrics, University of California San Diego, San Diego, California;4. Genetics/Dysmorphology, Rady Children’s Hospital San Diego, San Diego, California;5. Division of Genetics and Genomics, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;6. Institute for Neuromodulation and Neurotechnology, University of Tübingen, Tübingen, Germany;1. Cancer Epigenetics and Biology Program (PEBC), Bellvitge Biomedical Research Institute (IDIBELL), Av. Gran Via de L’Hospitalet 199–203, L’Hospitalet del Llobregat, Barcelona, Catalonia, Spain;2. Department of Biochemistry and Microbiology, University of Victoria, British Columbia, V8W 3P6, Canada;3. Department of Physiological Sciences II, School of Medicine, University of Barcelona, Barcelona, Catalonia, Spain;4. Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Catalonia, Spain;1. Division of Neonatology, Center for Maternal, Fetal and Neonatal Medicine, Fukuoka University Hospital, 45-1, 7-chome, Nanakuma Jonan-ku, Fukuoka 814-0180, Japan;2. Department of Pediatrics, Faculty of Medicine, Fukuoka University, 45-1, 7-chome, Nanakuma Jonan-ku, Fukuoka 814-0180, Japan |
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| Abstract: | BackgroundRett syndrome is a unique neurodevelopmental disorder, affecting approximately one in 10,000 live female births, most experiencing reduced growth. We characterized pubertal trajectories in females with Rett syndrome. We hypothesized that pubertal trajectory deviates from the general female population with early pubertal onset and delayed menarche.MethodsParticipants were individuals enrolled in the Rett Syndrome Natural History Study with clinical diagnosis of Rett syndrome or mutations in MECP2. Intervals to thelarche, adrenarche, and menarche were assessed by survival analysis; body mass index, mutation type, clinical severity, and pubertal milestone relationships were assessed by log-likelihood test; pathway synchrony (relationship between thelarche, adrenarche, and menarche) was assessed by chi-squared analysis.ResultsCompared with the general female population, more than 25% initiated puberty early, yet entered menarche later (median age 13.0 years). A total of 19% experienced delayed menarche. Median length of puberty, from thelarche to menarche, was 3.9 years. Higher body mass index correlated with earlier thelarche and adrenarche but not menarche; milder mutations correlated with earlier menarche; and milder clinical presentation correlated with earlier thelarche and menarche. Fifty-two percent entered puberty in synchrony, but different from the general population, 15% led with thelarche and 32% with adrenarche.ConclusionsPubertal trajectories in Rett syndrome differ from general population, entering puberty early and reaching menarche later. Body mass index affects pubertal timing, but the relationship between specific mutations, clinical presentation, and underlying neuroendocrine pathology is less clear. |
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| Keywords: | Rett syndrome MECP2 mutations neurodevelopmental disorder Puberty Menarche Body mass index |
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