ArticleProblemy endokrinologii2021
[Clinical and molecular genetic features of 3 family cases of the central precocious puberty, due to
Article in Problemy endokrinologii, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 5 citations in OpenAlex.
- Bioinformatics analysis explores key pathways and hub genes in central precocious puberty.Journal of pediatric endocrinology & metabolism : JPEM · 2025Article
- Outcomes of Patients With Familial Central Precocious Puberty due to Mutations ofInternational journal of endocrinology · 2025Article
- Novel MKRN3 Missense Mutations Associated With Central Precocious Puberty Reveal Distinct Effects on Ubiquitination.The Journal of clinical endocrinology and metabolism · 2023Article
- [Gonadotropin-dependent precocious puberty: genetic and clinical characteristics].Problemy endokrinologii · 2023Article
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Authors and funding
8 authors at 2 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Gonadotropin-dependent precocious puberty (central) is a condition resulting from the early (up to 8 years in girls and 9 years in boys) reactivation of the hypothalamic-pituitary-gonadal axis. An increase in the secretion of sex steroids by the gonads in this form is a consequence of the stimulation of the sex glands by gonadotropic hormones of the pituitary gland. In the absence of central nervous system abnormalities, CPP is classified as idiopathic and as familial in some cases, emphasizing the genetic origin of this disorder. Loss-of-function mutations in Makorin Ring Finger Protein 3 (MKRN3) are the most common identified genetic cause of central precocious puberty compared to sporadic cases. In the present study we performed the first descrition of 3 family cases of central precocious puberty duo to novel MKRN3 gene mutation detected by NGS in the Russian Federation.
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