ESPE Abstracts

Background: Menarche is a significant event in the reproductive life of a woman and represents the late event in puberty indicating that a sexually immature child has become reproductively capable. Even though the timing of puberty onset is approximately conserved in different populations, the puberty starts across a wide range of ages in normal girls. However, in the last decades we are observing that girls are experiencing earlier breast development and earlier menarche, als...

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 ...

Background: Basal levels of androgens, in particular 17-OHprogesterone (17OHP), are widely debated as predictors of non-classical congenital adrenal hyperplasia (NCCAH) among patients with precocious pubarche (PP). So many authors suggested the execution of ACTH stimulation test in all children with PP. The aim of our study was to identify clinical and biochemical predictors of NCCAH in children with PP.Methods: We conducted a prospective study of 92 pat...

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: IGF1R mutations are characterized by IGF-1 resistance causing impaired fetal and postnatal growth. Several reports in children with heterozygous defects of IGF1R have demonstrated a variable phenotype, which can be associated to microcephaly, dismorphic features and mild developmental delay.Case presentation: We report of an 8-years-old boy, who came at our observation with short stature (−3.2 SDS) and mild microcephal...

Background: There is an emerging evidence that the ovary may be an important site where genes such as LIN28b, whose polymorphisms has been strongly associated to age at menarche, could modulate the timing of puberty. Recent data suggest that the endocannabinoid system plays a role in folliculogenesis and ovulation, through cannabinoid receptor 2 (CB2) expressed in the ovary. On the other hand childhood obesity is associated with increased likelihood of early menarche,...

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...

Background: Studies examining vitamin D levels in association with childhood obesity usually do not concurrently measure levels of vitamin D-binding protein and do not calculate the unbound, bioavailable vitamin D, that is considered the fraction of 25-hydroxyvitamin D able to exert biological activity.Objective and hypotheses: To evaluate in a group of children for the most part obese i) the concentrations of both total 25-hydroxyvitamin D and of the bi...

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...