hrp0095p1-559 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Circulating MKRN3 levels in 5 CPP girls with MKRN3 gene mutation

Aiello Francesca , Palumbo Stefania , Cirillo Grazia , Luongo Caterina , Festa Adalgisa , Miraglia Del Giudice Emanuele , Grandone Anna

Background: MKNR3 is a paternally expressed gene whose loss-of-function mutations cause Central precocious puberty (CPP). The precise molecular disruption produced by MKRN3 mutations remains unclear albeit protein structure suggests MKRN3 could play a role in proteasome ubiquitination. Circulating MKRN3 levels has been negatively associated to LH peak, estradiol and kisspeptin in idiopathic CPP and healthy controls. However, no literature data is available for...

hrp0094p1-173 | Growth Hormone and IGFs B | ESPE2021

Growth hormone receptor 6Ω pseudoexon activation: a novel cause of severe growth hormone insensitivity

Cottrell Emily , Maharaj Avinaash , Williams Jack , Chatterjee Sumana , Cirillo Grazia , Giudice Emanuele Miraglia del , Festa Adalgisa , Palumbo Stefania , Capalbo Donatella , Salerno Mariacarolina , Pignata Claudio , Savage Martin O. , Schilbach Katharina , Bidlingmaier Martin , Hwa Vivian , Metherell Louise A. , Grandone Anna , Storr Helen L. ,

Context: Severe forms of growth hormone insensitivity (GHI) are characterised by extreme short stature, dysmorphism and metabolic anomalies. They are classically caused by homozygous or compound heterozygous mutations of the growth hormone receptor gene (GHR). Genetic analysis traditionally focuses on the exonic regions of genes that encode proteins rather than the intervening non-coding sequences. These seldom explored non-coding regions may harbour ...

hrp0095p1-561 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

A new DLK1 defect in a family with idiopathic CPP: elucidation of the male phenotype

Palumbo Stefania , Cirillo Grazia , Sanchez Gianmaria , Fachin Alice , Baldo Francesco , Grazia Pellegrin Maria , Cassio Alessandra , Carolina Salerno Maria , Maghnie Mohamad , Felicia Faienza Maria , Wasniewska malgorzata , Fintini Danilo , Giacomozzi Claudio , Ciccone Sara , Miraglia Del Giudice Emanuele , Tornese Gianluca , Grandone Anna

Introduction: Central precocious puberty (CPP) is due to premature activation of the hypothalamic-pituitary-gonadal axis. Mutations in the imprinted gene MKRN3 are the most common monogenic form of CPP. Recently, attention was directed to DLK1, another imprinted gene. Defects in this gene resulted to be a rare cause of CPP in girls and adult women with precocious menarche, obesity and metabolic derangement. We aimed to investigate a cohort of female and male p...