ESPE Abstracts

Silver-Russell syndrome (SRS) is a rare heterogeneous syndrome associated with severe prenatal and postnatal growth retardation.Context: There is little information on puberty onset and bone age trend in children with SRS.Study Design and partecipants: Retrospective observational study, including patients with a confirmed diagnosis of SRS divided in 2 molecular groups [ 11p15 loss of methylation, (...

Background: Since COVID-19 the number of girls referred to pediatric endocrinologist for suspected precocious puberty (PP) and early puberty (EP) has increased. The aim of the study was to evaluate the incidence, the anthropometric, biochemical and radiological characteristics of PP during the COVID-19 pandemic, compared to previous years.Methods: We retrospectively evaluated medical records of 464 females (F) referred t...

Introduction: The human fecal microbiota is known to shift in composition during adolescence, but whether fecal microbiota is associated with timing of sexual maturation is unknown. In mice, the change in the composition of fecal microbiota during puberty appears to be sex-specific and associate with changes in testosterone. We investigated the association between intestinal microbiota and pubertal timing in adolescents.Subjects ...

Background: Central precocious puberty (CPP) is defined as the secondary sexual characteristics onset before 8 years of age in females and before 9 in males, due to premature activation of the hypothalamic-pituitary-gonadal axis. The underlying cause remains idiopathic in the great majority; based on the 2009 Consensus, 2% to 7% of girls who have onset of CPP between the ages of 6 and 8 years have unsuspected pathology and only 1% have a tumor such...

Background: In 2003 recombinant human growth hormone (rhGH) was approved by European Medicines Agency to treat short children born small for gestational age (SGA), but so far no study evaluated the prevalence of SGA children with short stature who qualify for rhGH treatment in Europe.Objectives: To investigate the prevalence of SGA and short stature in children born SGA and of SGA children who qualify for rhGH treatment ...

We describe a female neonate born from consanguineous parents who presented at birth with respiratory distress and severe hypoglycemia. At six months of age, the child was admitted to the Intensive care Unit because of two critical episodes characterized by fever and loss of consciousness. Child condition were critical and suggestive of sepsis, but blood tests showed severe hypoglycemia (19 mg/dl), hyponatremia (Na 132 mmol/l), compensated metabolic acidosis and increased infl...

Objectives: To assess the long-term impact of prematurity on bone and body composition by using Dual-energy X-ray absorptiometry (DXA).Methods: DXA scans were performed in 100 preterm (PT) (n=42F, n=58M, mean weeks’gestation 31.5±2.6; range 26−36) and 51 born at term (BT) healthy infants (n=28F, n=23M). DXA measures of total body and lumbar spine mineral density (TB/L1-L4 BMD, g/cm2 and Z...

Background: The placenta plays a key role in regulating fatty acid (FA) transport from maternal to fetal circulation. An unfavourable FA profile in the placenta, reflecting an inadequate nutritional status during pregnancy, may cause changes in placental DNA methylation and negatively affect fetal growth and metabolic health of the offspring.Objectives: We aimed to study the association of an unfavourable placental FA profile with placental DNA methylati...

Introduction: The diagnosis of growth hormone deficiency (GHD) is currently based on clinical, auxological, biochemical, and neuro-radiological investigation. Provocative tests of GH secretion using physiological/pharmacological stimuli are required to confirm GHD. The clonidine test (CT) is widely used to assess GH secretory status. In this retrospective study we analyzed the reliability of CT and the effect of puberty in a large number of children with short stature who had ...

Context: The early activation of the hypothalamic-pituitary-gonadal axis during infancy can be used in the evaluation of infants suspected of disorders of sex development (DSD). However, few data exists on sex-specific reference ranges for these hormones during early life.Objective: To evaluate sex-differences in reproductive hormone concentrations in serum from healthy infants in order to define sex-specific cut-off values and to apply these in infants ...