ESPE Abstracts

Introduction: The thyrotropin receptor (TSHR) has a key role in the thyroid gland. It is involved in folliculogenesis, differentiation, organogenesis, and thyroid hormone synthesis and production. Its genetic defects can cause poor differentiation (thyroid dysgenesis) and/or thyroid malfunction (thyroid dyshormonogenesis, TD). Therefore, its phenotype spectrum is wide, ranging from severe congenital hypothyroidism (CH) to mild hyperthyrotropinemia. Some hetero...

Background: The detection of hyperglycemia on occasional evaluation raises the diagnosis of diabetes mellitus (DM). Maturity onset diabetes of the young (MODY), namely glucokinase deficiency, should be considered in cases of non-progressive hyperglycemia associated with a positive family history.Objective and hypotheses: We describe two unrelated cases of asymptomatic hyperglycemia where glucokinase mutations were detected.Method: ...

Background: Pseudohypoaldosteronism type 1 (PHA1) is a rare disorder of neonatal salt loss unresponsive to mineralocorticoids, requiring salt supplementation. It results from resistance of kidney and/or other tissues to mineralocorticoids, arising from mutations in genes encoding mineralocorticoid receptor (MR: NR3C2; autosomal dominant), or epithelial sodium channel (ENaC) genes (SCNN1A/B/G; autosomal recessive). Milder clinical phenotype associates with ren...

During the pandemic, an increase in the cases of premature thelarche consultations was observed. Our group published a series in 2021 of 75 cases. This effect could have been caused by an increase in body fat mass in girls, suggesting a “trigger effect” in the activation of the gonadal axis, causing an increase in the number of cases of early puberty (SEEP Oviedo 2022). AMH has been correlated as a predictor of the moment of menarche (doi: 10.1515/jpem-2014-0521)</...

Pediatric diabetes management extends beyond glycemic control. A gap between guidelines and actual care exists. Standardized performance measures represent a key strategy to improve quality of care. In Italy, a non-profit initiative of continuous monitoring and quality improvement of diabetes care is in place since 2018, promoted by the ISPEDCARD association and involving the Society for Pediatric Endocrinology and diabetology (ISPED). Aim of the present work is to report the ...

Oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked and multisystem disorder with clinical symptoms of congenital cataracts, severe mental retardation, hypotonia, areflexia, and incomplete Fanconi syndrome of the proximal renal tubules. We report a 15-year-old short stature male with a severe form of OCRL syndrome, diagnosed based on bilateral congenital cataract, proteinuria, tubulopathy, and dysmorphic findings. The physical examination revealed a height of 152 cm (-2.7...

Background: Approximately 10-15% of small for gestational age (SGA) newborns are at risk of having subnormal growth and persistent short stature. It is postulated that a large amount of persistent short stature results from genetic abnormalities, which are commonly characterized by dysmorphic features and developmental disorders.Aim: To uncover the genetic etiology of syndromic short stature children born SGA.<p clas...

Background: Sexual maturation is closely linked to growth, suggesting common pathways between the reproductive development and the growth hormone/insulin-like growth factor-I (GH/IGF-I) axis. IGF-I bioavailability is regulated by Pregnancy associated plasma protein-A (PAPP-A), Pregnancy associated plasma protein-A2 (PAPP-A2) and Stanniocalcin 2 (STC2). A large genome-wide association study (GWAS) identified PAPP-A, PAPP-A2 and STC2 to represent loci strongly a...

Background: Growth in infancy is considered primarily to be regulated by nutrition and insulin, whereas less is known about the influence of IGF-I, reproductive hormones and other factors of importance. Recently, paternally inherited genetic defects of DLK1 (Delta-like 1 homolog) were found in girls with central precocious puberty (CPP) with a metabolic phenotype. In addition, low maternal serum DLK1 concentrations were significantly lower in pregnant women wh...

Introduction: The metabolic effects of oral hormonal contraception (OC) on telomere length (RTL) in young women with T1D are unknown.Objective: To determine the effect of using an OC on glycemic control, inflammatory profile, and RTL in young women with T1D and healthy women without diabetes (C).Methodology: T1D (n:20, age: 20.6 &pm; 3.3 years) and C (n:22, age 20.2 &pm; 3 years) u...