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- W4308202319 abstract "Abstract Context Idiopathic central precocious puberty (iCPP) is defined by the premature reactivation of the hypothalamic-pituitary-gonadal axis with normal magnetic resonance imaging scan of the central nervous system, causing the development of secondary sexual characteristics before age 8 years in girls and 9 years in boys. MKRN3 loss of function variants now represent the most common genetic cause of iCPP. Objective This work aims to document the clinical course of puberty in 8 families harboring pathogenic MKRN3 variants. Methods This is an observational case series study of patients with CPP due to MKRN3 variants followed in a single center. Results Genetic analysis of MKRN3 was carried out in 28 unrelated patients with iCPP and a family history of paternal inheritance or no/unavailable maternal inheritance, particularly in case of very early and rapidly evolving CPP. We identified 6 novel and 2 recently described variants in the MKRN3 gene in 9 girls, 1 boy, and their family members. These mutations were all predicted to be deleterious by in silico prediction programs Conclusion We have identified 6 novel MKRN3 mutations in children with CPP. An MKRN3 loss of function should be considered after careful history pinpointing paternally inherited CPP. A family segregation study allowed the detection of an MKRN3 variant in 2 young brothers still prepubertal, raising the question of screening and management of asymptomatic prepubertal family members." @default.
- W4308202319 created "2022-11-09" @default.
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- W4308202319 date "2022-11-04" @default.
- W4308202319 modified "2023-09-25" @default.
- W4308202319 title "Six Novel Variants in the <i>MKRN3</i> Gene Causing Central Precocious Puberty" @default.
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- W4308202319 doi "https://doi.org/10.1210/jendso/bvac168" @default.
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