ESPE Abstracts

Background: Growth Hormone (GH) plays an important role in linear growth and in bone turnover during childhood. GH deficiency (GHD) may cause secondary osteoporosis associated to low bone mineral density (BMD), impairment of bone turnover and increased fracture rate. The effects of treatment with recombinant human Growth Hormone (rhGH) on bone metabolism are controversial. We aimed to assess BMD using dual energy x-ray absorptiometry (DEXA) among a cohort of children with GHD ...

Clinical history and symptoms: XX, 9.37 years, was referred to our Clinic for obesity and psycho-motor delay. Family history: Fibromyalgic mother, two maternal cousins with psycho-motor delay, paternal uncle with epilepsy and intellectual disability. Born at term from caesarean section for placental detachment after physiological pregnancy (birth weight g 1900, SGA). In the first years of life she had psychomotor retardation, episodes of affective spasms, nocturnal enuresis, a...

Childhood obesity is the consequence of a complex interaction among several factors: environment, genetics, endocrine disorders, medications and other conditions. Genetic factors are described to be causal factors in up to 30–50% of overweight conditions. Although polygenetic obesity is by far the most commonly observed, several obesity related syndromes associated with single gene defects have been identified.Case presentation: A three year old gir...

Background: Sitosterolemia is a rare autosomal recessive disorder characterized by intestinal hyperabsorption and decreased biliary excretion of dietary plant sterol, due to mutations in adenosine-triphosphate (ATP)-binding-cassette (ABC) transporter family (ABCG8 and ABCG5).Case report: A 7.86 years old boy was referred to the Childhood Lipid Clinic due to incidental finding of hypercholesterolemia: total cholesterol 524 mg/dl (13.54 mmol/l), LDL-choles...

Introduction: Benign hereditary chorea (BHC) is a rare, autosomal dominant disorder, described as a non-progressive chorea of early onset. BHC can present as single neurologic disorder (13%), brain and thyroid disease (30%) or ‘brain–lung–thyroid syndrome’ with congenital hypothyroidism and neonatal respiratory distress syndrome (50%).Case Report: 18 months old infant was admitted to the Endocrinology Outpatient Clinic with motor dela...

Background: GH has several effects on lipid and glucose homeostasis. In adults GH deficiency (GHD) has been associated to increased mortality for cardiovascular disease (CVD). In childhood few studies have investigated the effect of GHD and recombinant human GH (rhGH) therapy on metabolic parameters that may increase the risk of CVD.Objective and hypotheses: To assess changes of lipid profile, insulin-resistance indexes, and CVD risk in children and adol...

Background: Terminal deletions of chromosome 15q are associated with different degrees of pre- and post-natal growth failure, dysmorphic features, functional impairments and congenital anomalies. Although monosomies of 15q26 do not represent a classical contiguous gene syndrome, candidate genes for selected features have been identified. Short stature is referred to deletions of the IGF1-R gene, located on 15q26.3. We demonstrate evidence of phenotype comparable with 15q26 mon...

Case reports: Patient 1 was diagnosed with Williams Syndrome (WS) when she was 11 years-old. She presented typical facial features, mental retardation (IQ 34) and chronic constipation. Pregnancy and neonatal period were unremarkable. Her growth has always been satisfying. No cardiac defects were detected at echocardiogram. Cerebral MRI showed enlarged pituitary (height of 9 mm) in the contest of which a mass with suprasellar extension was detected. Thyroid and adrenal...

Introduction: The beginning of the COVID-19 pandemic encouraged a sedentary lifestyle and “covibesity” was reported. Concerns for consequences on anthropometric data, glycemic control, and lipid profile in subjects with type 1 diabetes (T1D) were raised.Objectives: Longitudinal and observational study aimed to investigate the 2-years effects of the COVID-19 pandemic on BMI, glycemic control, and lipid profile...

Background: Gonadotropin releasing hormone analogs (GnRHa) are effective in improving adult height in children with precocious onset of puberty, rapid progression, and good growth potential. In last years, however, some transient metabolic complications have been described during the treatment without the reassurance of long-term data yet. The aim of our study is to clarify if body mass index (BMI) at diagnosis of idiopathic central precocious puberty (iCPP) c...