hrp0089rfc9.1 | Pituitary, Neuroendocrinology and Puberty 1 | ESPE2018

Clinical and Genetic Features of Central Precocious Puberty Associated with Complex Phenotypes

Canton Ana , Brito Vinicius , Montenegro Luciana , Ramos Carolina , Macedo Delanie , Bessa Danielle , Cunha Marina , Jorge Alexander , Mendonca Berenice , Latronico Ana Claudia

Background: Idiopathic central precocious puberty (CPP) is mostly described as an isolated entity. A few studies have shown its association with clinical syndromes and rare cases of chromosomal abnormalities.Objective: To clinically characterize patients with CPP, pointing out prevalent associated conditions and phenotypes.Patients and Methods: One hundred and forty-five patients with idiopathic CPP were retrospectively evaluated. ...

hrp0086p1-p726 | Pituitary and Neuroendocrinology P1 | ESPE2016

Time Course of Central Precocious Puberty Development Caused by an MKRN3 Gene Mutation: A Prismatic Case

Stecchini Monica , Macedo Delanie , Reis Ana Claudia , Abreu Ana Paula , Moreira Ayrton , Castro Margaret , Kaiser Ursula , Latronico Ana Claudia , Antonini Sonir

Background: Loss-of-function mutations in the imprinted gene MKRN3 represent the most common known genetic defects associated with central precocious puberty (CPP). The penetrance of these mutations remains to be established. To date, all reported individuals with MKRN3 mutations were already in puberty or postpubertal and were identified retrospectively.Objective and hypotheses: To report the first case of a prepubertal child with an MKRN3 muta...

hrp0082ha1 | Deciphering the functional mechanisms by which MKRN3 regulates puberty initiation | ESPE2014

Deciphering the Functional Mechanisms by which MKRN3 Regulates Puberty Initiation

Abreu Ana Paula , Navarro Victor , Bosch Martha , Liang Joy , Macedo Delanie , Simavli Serap , Noel Sekoni , Thompson Iain , Ronnekleiv Oline , Carroll Rona , Latronico Ana Claudia , Kaiser Ursula

Background: We recently identified loss-of-function mutations in makorin ring finger 3 (MKRN3) as a cause of familial central precocious puberty (CPP). Analysis of Mkrn3 expression in the arcuate nucleus of mice showed high expression levels in juvenile mice, with a marked reduction prior to puberty onset, suggesting that MKRN3 inhibits puberty initiation. The function of MKRN3 is not known but based on its amino acid sequence, it is predicted to act as an ubiquitin l...