ArticleNeuroendocrinology2017
High Frequency of MKRN3 Mutations in Male Central Precocious Puberty Previously Classified as Idiopathic.
Article in Neuroendocrinology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers.
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Who cites it
45 citing papers in PubMed, 78 citations in OpenAlex.
- Article
- Idiopathic Central Precocious Puberty in Boys: Results from a National Portuguese Cohort.Hormone research in paediatrics · 2026Article
- MECP2 Rare Variants in Boys With Central Precocious Puberty.The Journal of clinical endocrinology and metabolism · 2026Article
- Divergent epigenetic profile underlie pubertal disorders in MKRN3-associated central precocious puberty and Prader-Willi syndrome: insights from a frameshift variant.World journal of pediatrics : WJP · 2026Article
- The Role of DLK1 Deficiency in Central Precocious Puberty and Association with Metabolic Dysregulation.Hormone research in paediatrics · 2026Article
- Genetics and Epigenetics of Human Pubertal Timing: The Contribution of Genes Associated With Central Precocious Puberty.Journal of the Endocrine Society · 2025Review
- Central Precocious Puberty in Italian Boys: Data From a Large Nationwide Cohort.The Journal of clinical endocrinology and metabolism · 2024Article
- Novel MKRN3 Missense Mutations Associated With Central Precocious Puberty Reveal Distinct Effects on Ubiquitination.The Journal of clinical endocrinology and metabolism · 2023Article
- A new DLK1 defect in a family with idiopathic central precocious puberty: elucidation of the male phenotype.Journal of endocrinological investigation · 2023Article
- [Gonadotropin-dependent precocious puberty: genetic and clinical characteristics].Problemy endokrinologii · 2023Article
- Six Novel Variants in theJournal of the Endocrine Society · 2022Article
- Aberrant Notch Signaling Pathway as a Potential Mechanism of Central Precocious Puberty.International journal of molecular sciences · 2022Review
- MKRN3 role in regulating pubertal onset: the state of art of functional studies.Frontiers in endocrinology · 2022Review
- Serum metabolomic analysis reveals key metabolites in drug treatment of central precocious puberty in female children.Frontiers in molecular neuroscience · 2022Article
- Genetic causes of central precocious puberty.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2022Review
- Central precocious puberty: Recent advances in understanding the aetiology and in the clinical approach.Clinical endocrinology · 2021Review
- Diagnosis and management of precocious sexual maturation: an updated review.European journal of pediatrics · 2021Review
- Familial central precocious puberty: two novel MKRN3 mutations.Pediatric research · 2021Article
- Central nervous system imaging in girls with central precocious puberty: when is necessary?Archives of endocrinology and metabolism · 2021Article
- Genotype-Phenotype Correlations in Central Precocious Puberty Caused by MKRN3 Mutations.The Journal of clinical endocrinology and metabolism · 2021Article
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Authors and funding
15 authors at 4 institutions in 3 countries.
Funding
Abstract
BACKGROUND/
aimsRecently, loss-of-function mutations in the MKRN3 gene have been implicated in the etiology of familial central precocious puberty (CPP) in both sexes. We aimed to analyze the frequency of MKRN3 mutations in boys with CPP and to compare the clinical and hormonal features of boys with and without MKRN3 mutations.
methodsThis was a retrospective review of clinical, hormonal and genetic features of 20 male patients with idiopathic CPP evaluated at an academic medical center. The entire coding regions of MKRN3, KISS1 and KISS1R genes were sequenced.
resultsWe studied 20 boys from 17 families with CPP. All of them had normal brain magnetic resonance imaging. Eight boys from 5 families harbored four distinct heterozygous MKRN3 mutations predicted to be deleterious for protein function, p.Ala162Glyfs*14, p.Arg213Glyfs*73, p.Arg328Cys and p.Arg365Ser. One boy carried a previously described KISS1-activating mutation (p.Pro74Ser). The frequency of MKRN3 mutations among these boys with idiopathic CPP was significantly higher than previously reported female data (40 vs. 6.4%, respectively, p < 0.001). Boys with MKRN3 mutations had typical clinical and hormonal features of CPP. Notably, they had later pubertal onset than boys without MKRN3 abnormalities (median age 8.2 vs. 7.0 years, respectively, p = 0.033).
conclusionWe demonstrated a high frequency of MKRN3 mutations in boys with CPP, previously classified as idiopathic, suggesting the importance of genetic analysis in this group. The boys with CPP due to MKRN3 mutations had classical features of CPP, but with puberty initiation at a borderline age.
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