ESPE Abstracts

Children born small for gestational age (SGA) not showing catch-up growth in the first two years of life may show decreased growth rate and adult height, as well as worse metabolic profile, compared to general population. In these patients, growth hormone (GH) treatment is recommended, showing positive effects on both growth rate and metabolic profile, with good tolerability. The aim of the current study was to evaluate the auxological and metabolic effects and the safety of G...

Background: The isodicentric Y (idic Y) is one of the most common aberrations of the Y chromosome. Most patients (pts) are chromosomal mosaics, including 45,X cell line.Objective and hypotheses: Our aim is to describe clinical and molecular features of our 45,X/46,Xidic(Y) cases.Method: We retrospectively evaluate the clinical description of nine cases (six females, one male, two with ambiguous genitalia) with mosaic karyotype 45,X...

Background/objective and hypotheses: Not-brain-related birth body weight (NBBW) relevance to known relationships of birth gestational age (GA) with blood serum IGF binding protein 3 (IB3) was studied in the not-life threatened newborn (NWB).Method: SEX, GA (unit:complete week), postnatal age (PNA; unit:day), birth body weight (BW; unit:g), birth head circumference (HC; unit:cm), BW<10th centile for GA (SGA), caesarean section (CS), predominant oral/e...

Background/objective and hypotheses: Parenteral nutrition (KIVD) relevance to known birth gestational age (GA) relations to the blood serum IG2/blood serum IGF binding protein 3 (IB3) ratio (IG2 through chronologically corresponding IB3, IG2/IB3) was studied in the not-life-threatened newborn (NWB).Method: SEX, GA (unit, complete week), postnatal age (PNA; unit, day), birth body weight (BW; unit, g), birth head circumference (HC; unit, cm), GA≤36 (...

Background/objective and hypotheses: Chest circumference (CC) is related to intrauterine growth rate as well as to development-function of respiratory system. We evaluated the relevance of birth body weight (BW) and blood serum IGF1 (IG1) in birth CC (BC) relations to blood serum IGF-binding-protein-3 (IB3) after control for preterm birth (PTB), oxigen (O2) supplementation as %O2 in respiratory gases (O2R) and assisted ventilation of any kind (...

Introduction: Progressive pseudorheumatoid dysplasia (PPRD) is a rare genetic bone disorder characterised by the progressive degeneration of articular cartilage leading to pain, stiffness, joint enlargement and short stature. PPRD occurs due to a mutation in cellular communication network factor 6 (CCN6)/Wnt1-inducible signalling protein 3 (WISP3) gene, encoding a 354 amino acid signalling factor involved in BMP/WNT signalling and mitochondri...

Introduction: The survival rates for childhood cancer have significantly increased over the past decades but the management of treatment-related complications remains challenging. Thus, the introduction of novel drugs requires careful investigation of potential off-target side effects. The developing skeleton is severely affected by the anticancer treatment which may result in growth retardation and short stature. Venetoclax is a selective Bcl-2 inhibitor whic...

Background: The prevalence of childhood obesity has increased dramatically in the last decades and accounts for a significant increase in morbidity and mortality in adulthood.Objective and hypotheses: To determine the prevalence of 25-hydroxyvitamin D insufficiency and deficiency in overweight and obese children and adolescents.Method: 350 (n=350) children and adolescents (153 males (M), 197 females (F)) were recruited to ...

Background: The congenital form of congenital multiple pituitary hormone deficiencies (cMPHD) is rarely differentiated from the acquired type. cMPHD is due to impaired production of several pituitary hormones, caused by mutations in the pituitary transcription factors genes: PROP1, POU1F1 (PIT1), HESX1, LHX3, LHX4. It includes short stature, delayed puberty, cognitive impairment, obesity and metabolic abnormalities.Objective and hypotheses: To evaluate i...

Background: A greater number of male (M) vs female (F) patients are diagnosed with GH deficiency (GHD). M have larger birth weight (BW), length and head circumference (HC) compared to F; these characteristics could contribute to subtle cephalo-pelvic disproportion and mild head trauma possibly contributing to idiopathic GHD (IGHD) and multiple pituitary hormone deficiencies (MPHD).Objective: To determine birth characteristics including mode of delivery a...