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Six Novel Variants in the MKRN3 Gene Causing Central Precocious Puberty.

par Gernay, Caroline;Brachet, Cécile ;Boros, Emese ;Tenoutasse, Sylvie ;Libioulle, Cécile;Heinrichs, Claudine
Référence Journal of the Endocrine Society, 7, 1, page (bvac168)
Publication Publié, 2022-11

Article révisé par les pairs

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Résumé :

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.