hrp0092p1-93 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Persisting Embryonal Infundibular Recess in a Patient with Morning Glory Syndrome and Multiple Pituitary Deficiencies

FESTA ADALGISA , GRANDONE ANNA , LUONGO CATERINA , CIRILLO GRAZIA , del GIUDICE EMANUELE MIRAGLIA

A 5-year old boy was referred to our clinic for short stature reported since first years of life. At birth weight and length were normal, psychomotor development was regular, target height was 165.9 cm. At 7 months of life he was subjected to correction of cleft lip-palate. Since 3 years of life he suffered from headache, for which a fundoscopy was performed and revealed a Morning Glory Disc Anomaly (MGDA) of the right eye. At our first visit height was 98.2 cm (-2.5DS), body ...

hrp0092p1-354 | Fat, Metabolism and Obesity (2) | ESPE2019

Association Between Adiposity Measures and Metabolic Variables in Children and Adolescentswith Obesity

Umano Giuseppina Rosaria , Di Sessa Anna , Cirillo Grazia , Ursi Davide , Marzuillo Pierluigi , Miraglia Del Giudice Emanuele

Childhood obesity has become a major health issue in the last decades. Moreover, identifying a simple, feasible, and valid screening tool to select subjects at higher risk for obesity-related comorbidities has become a challenge. Current guidelines reccommend to use BMI percentile for overweight and obesity diagnosis. However, waist-to-height ratio (WHR) has been associated with the risk of metabolic derangement in children and adolescents with overweight and obesity. In addit...

hrp0089p1-p206 | Pituitary, Neuroendocrinology and Puberty P1 | ESPE2018

MKRN3 Levels in Girls with Central Precocious Puberty During GnRHa Treatment: A Longitudinal Study

Grandone Anna , Cirillo Grazia , Sasso Marcella , Luongo Caterina , Tornese Gianluca , Festa Adalgisa , Giudice Emanuele Miraglia Del

Background: Recently, mutations of makorin RING-finger protein 3 (MKRN3) have been identified in familial central precocious puberty (CPP). Serum levels of this protein decline before the pubertal onset in healthy girls and boys and are lower in patients with CPP compared to prepubertal matched pairs. The aim of the study is to investigate longitudinal changes in MKRN3 circulating levels in patients with CPP before and during GnRHa treatment.Me...

hrp0086rfc12.4 | Neuroendocrinology | ESPE2016

Molecular Screening of MKRN3, DLK1 and KCNK9 Genes in Central Precocious Puberty

Grandone Anna , Sasso Marcella , Cirillo Grazia , Luongo Caterina , Mariani Michela , del Giudice Emanuele MIraglia , Perrone Laura

Background: Central precocious puberty (CPP) is often familial but its genetic cause is largely unknown. Very recently, the makorin RING finger protein 3 (MKRN3) gene has been found mutated for the first time in 5 families with familial precocious puberty. The inheritance pattern is particular being the MKRN3 a maternal imprinted gene. Moreover in a recent genome wide association study common intronic or intragenic variants harbouring this gene and other two imprinted genes, D...

hrp0084p2-540 | Puberty | ESPE2015

A Case of Familial Central Precocious Puberty Caused by a Novel Mutation in the Makorin RING Finger Protein 3 Gene

Grandone Anna , Cantelmi Grazia , Marzuillo Pierluigi , Cirillo Grazia , Luongo Caterina , Micillo Flora , Giudice Emanuele Miraglia del , Perrone Laura

Background: Central precocious puberty (CPP) is often familial but its genetic cause is largely unknown. Very recently, the makorin RING finger protein 3 (MKRN3) gene, located on chromosome 15 in the Prader-Willi syndrome (PWS)-associated region (15q11-q13), has been found mutated for the first time in five families with familial precocious puberty, with a peculiar kind of transmission. In fact, it is an imprinted gene which is expressed only if transmitted from the father. Th...

hrp0092fc4.4 | Fat Metabolism and Obesity Session | ESPE2019

The rs72613567:TA Variant in the Hydroxysteroid 17-beta Dehydrogenase 13 Gene Reduces Liver Damage in Obese Children

Sessa Anna Di , Rosaria Giuseppina , Cirillo Grazia , Marzuillo Pierluigi , Arienzo Maria Rosaria , Pedulla' Marcella , Miraglia Del Giudice Emanuele

Background: The rs72613567:TA variant in the hydroxysteroid 17-beta dehydrogenase 13 (HSD17B13) gene has been associated with decreased risk of liver damage.Aims: To investigate the association between the HSD17B13 rs72613567:TA variant and both hepatic steatosis and biochemical markers of liver damage in obese children and to evaluate its potential effect in NAFLD genetic predisposition.<p...

hrp0092p1-111 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

PROKR2 in Girls with Idiopathic Central Precocious Puberty

Grandone Anna , Luongo Caterina , Cassio Alessandra , Salerno Mariacarolina , Tornese Gianluca , Festa Adalgisa , del Giudice Emanuele Miraglia , Cirillo Grazia

Introduction: PROKR2 is a 384-amino acid G-protein-coupled receptors (GPCR) that regulates GnRH secretion in the hypothalamus. PROKR2 mutations have been described as cause of a certain percentage of of hypogonadotropic hypogonadism and Kallmann syndrome.In 2017 a heterozygous frameshift gain of function mutation of PROKR2 was identified in a 3.5-year-old girl with central precocious puberty (CPP).The aim of our st...

hrp0089p2-p268 | Growth &amp; Syndromes P2 | ESPE2018

A New Mutation in IHH Gene Causing Severe Short Stature

Festa Adalgisa , Luongo Caterina , Grandone Anna , Cirillo Grazia , Greco Federica , Torella Annalaura , Nigro Vincenzo , Giudice Emanuele Miraglia Del

Introduction: Heterozygous mutations in IHH are known to cause Brachydactyly type A1 (BDA1), in which the typical clinical features are bilaterally short-ening or absence of the middle phalanges of most digits of hands and feet, shortness of 1st proximal bone and short stature; althougt short stature is considered part of BDA1, in most reported cases is not always present or unrelevant compared to the stature of unaffected relatives. Recently heterozygous mutations ...

hrp0089lb-p1 | Late Breaking P1 | ESPE2018

A Second Growth Hormone Receptor Pseudoexon Mutation Causing Frameshift and Severe Postnatal Growth Failure

Cottrell Emily , Maharaj Avinaash , Chatterjee Sumana , Grandone Anna , Cirillo Grazia , del Giudice Emanuele Miraglia , Metherell Louise A , Storr Helen L

Background: Growth Hormone Insensitivity (GHI) is usually caused by mutations in the Growth Hormone receptor (GHR). Patients present with short stature associated with high GH and low IGF-I levels and often have midfacial hypoplasia (typical Laron syndrome facial features). Our centre previously described the first GHR pseudoexon mutation (42700896A>G, c. 618+792A>G). The inclusion of this 108bp pseudoexon is predicted to lead to in-frame insertion of...

hrp0086fc4.5 | Pathophysiology of Obesity | ESPE2016

Novel Association between the Non-synonymous A803G Polymorphism of the N-acetyltransferase 2 Gene and Impaired Glucose Homeostasis in Obese Children and Adolescents

Marzuillo Pierluigi , Grandone Anna , Di Sessa Anna , Umano Giuseppina Rosaria , Cirillo Grazia , Perrone Laura , del Giudice Emanuele Miraglia

Background: The N-acetyltransferase 2 (NAT2) A803G polymorphism leading to substitution of lysine to arginine at residue 268 and codifying for a cytosolic enzyme catalysing acetyl-CoA-dependent N- and O-acetylation reactions, has been associated with decreased insulin sensitivity in a large adult population with the A allele associated with insulin resistance (IR)-related traits.Objective and hypotheses: We screened for this polymorphism, for th...