ESPE Abstracts

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...

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 ...

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...

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...

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...

Background: Although the transition from the pre-pubertal condition to puberty occurs physiologically within a bounded age range, recent data indicate a central role for epigenetics in the regulation of several genes that could mediate an alteration of pubertal onset. Moreover, changes occurring during this developmental stage have often been associated with susceptibility to a wide range of diseases in later life. To identify changes in DNA methylation profil...

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...

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...

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 ...

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...