ArticleHormone research in paediatrics2016
Time Course of Central Precocious Puberty Development Caused by an MKRN3 Gene Mutation: A Prismatic Case.
Article in Hormone research in paediatrics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 21 citations in OpenAlex.
- 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
- Six Novel Variants in theJournal of the Endocrine Society · 2022Article
- Applying precision medicine to the diagnosis and management of endocrine disorders.Endocrine connections · 2022Review
- The E3 ubiquitin ligase RNF216/TRIAD3 is a key coordinator of the hypothalamic-pituitary-gonadal axis.iScience · 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
- Pathogenic and Low-Frequency Variants in Children With Central Precocious Puberty.Frontiers in endocrinology · 2021Article
- Makorin RING finger protein 3 and central precocious puberty.Current opinion in endocrine and metabolic research · 2020Article
- GENETICS IN ENDOCRINOLOGY: Genetic etiologies of central precocious puberty and the role of imprinted genes.European journal of endocrinology · 2020Review
- A novel heterozygous MKRN3 nonsense mutation in a Chinese girl with idiopathic central precocious puberty: A case report.Medicine · 2020Article
- Evolutionary Conservation of MKRN3 and Other Makorins and Their Roles in Puberty Initiation and Endocrine Functions.Seminars in reproductive medicine · 2019Review
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9 authors at 4 institutions in 2 countries.
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Abstract
backgroundLoss-of-function mutations in the imprinted gene MKRN3 represent the most common known genetic defects associated with central precocious puberty (CPP).
methodsWe report the first case of a girl carrying an MKRN3 mutation detected in childhood and followed until the development of pubertal signs.
resultsThe girl was screened at the age of 4 years because of a positive family history; her sister had developed CPP at 6 years of age and was found to harbor the MKRN3 p.Pro161Argfs*16 mutation, inherited from their asymptomatic father. During close follow-up, she initially developed increased growth velocity at 6 years (9 cm/year), followed by a slightly increased basal luteinizing hormone level (0.4 mIU/ml) and, ultimately, clinical thelarche with rapid progression (Tanner stage 1-3) between 6.3 and 6.7 years. In the context of a loss-of-function MKRN3 mutation and a positive family history, these features established the diagnosis of CPP and supported the initiation of treatment with a gonadotropin-releasing hormone analog. The absence of significant bone age advancement, pubic or axillary hair, or behavioral or social problems could be ascribed to the early diagnosis.
conclusionThe identification of carriers of MKRN3 mutations may contribute to early diagnosis of CPP, facilitating treatment decisions and guiding genetic counseling and prompt intervention in familial cases.
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