MKRN3 Mutations in Central Precocious Puberty: A Systematic Review and Meta-Analysis
| Autor: | Rona S. Carroll, Adriana Lofrano-Porto, Renata Oliveira, Isabela Porto de Toledo, Luiz Claudio Castro, Eliete Neves Silva Guerra, Ana Claudia Latronico, Luciana Pinto Valadares, Ursula B. Kaiser, Ana Paula Abreu, Cinthia Gabriel Meireles |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Pediatrics medicine.medical_specialty Endocrinology Diabetes and Metabolism Central precocious puberty 030209 endocrinology & metabolism Subgroup analysis 03 medical and health sciences Basal (phylogenetics) 0302 clinical medicine systematic review Genotype medicine In patient 10. No inequality central precocious puberty business.industry Bone age Pituitary and Neuroendocrinology 3. Good health meta-analysis 030104 developmental biology Meta-analysis business MKRN3 Puberty onset |
| Zdroj: | Journal of the Endocrine Society |
| ISSN: | 2472-1972 |
| Popis: | MKRN3 mutations represent the most common genetic cause of central precocious puberty (CPP) but associations between genotype and clinical features have not been extensively explored. This systematic review and meta-analysis investigated genotype-phenotype associations and prevalence of MKRN3 mutations in CPP. The search was conducted in seven electronic databases (Cochrane, EMBASE, LILACS, LIVIVO, PubMed, Scopus, and Web of Science) for articles published until 4 September 2018. Studies evaluating MKRN3 mutations in patients with CPP were considered eligible. A total of 22 studies, studying 880 subjects with CPP, fulfilled the inclusion criteria. Eighty-nine subjects (76 girls) were identified as harboring MKRN3 mutations. Girls, compared with boys, exhibited earlier age at pubertal onset (median, 6.0 years; range, 3.0 to 7.0 vs 8.5 years; range, 5.9 to 9.0; P < 0.001), and higher basal FSH levels (median, 4.3 IU/L; range, 0.7 to 13.94 IU/L vs 2.45 IU/L; range, 0.8 to 13.70 IU/L; P = 0.003), and bone age advancement (ΔBA; median, 2.3 years; range, −0.9 to 5.2 vs 1.2 years; range, 0.0 to 2.3; P = 0.01). Additional dysmorphisms were uncommon. A total of 14 studies evaluating 857 patients were included for quantitative analysis, with a pooled overall mutation prevalence of 9.0% (95% CI, 0.04 to 0.15). Subgroup analysis showed that prevalence estimates were higher in males, familial cases, and in non-Asian countries. In conclusion, MKRN3 mutations are associated with nonsyndromic CPP and manifest in a sex-dimorphic manner, with girls being affected earlier. They represent a common cause of CPP in western countries, especially in boys and familial cases. |
| Databáze: | OpenAIRE |
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