ESPE Abstracts

Background: Obesity is usually correlated with a higher prevalence of 25OH vitamin D (25OHD) deficiency. This might be due to either volumetric dilution of vitamin D in the large fat mass or its increased uptake by adipose tissue. To our knowledge, a systematic study on 25OHD levels in Prader-Willi syndrome (PWS), a genetic disorder associated with severe obesity, is not available.Objective and hypotheses: To analyze the 25OHD values in a population of p...

Background: Growth retardation is seen in about 30% of children with chronic renal failure (CRF). Under-nutrition, anaemia, secondary hyperparathyroidism, acidosis, corticosteroid therapy and abnormalities in the GH/insulin like growth factor system have been implicated. Recombinant GH (rGH) therapy is recommended in children showing failure to maintain a normal height velocity despite optimized primary treatments.Objective and hypotheses: It has been de...

Background: The Adrenocortical Neoplasm (ACN) is a rare condition in childhood (0,3 cases/1000000). In paediatric age, ACN at stage 1 is treated by complete adrenalectomy, while at stages 2 and 3 surgery is followed by adjuvant treatment with Mitotane (M). Chemotherapy is required in metastatic cases (stage 4).Objective and hypotheses: M is an adrenal cytotoxic agent which has both adrenolytic action on ACN cells and inhibition on steroid hormone synthes...

Background: The onset of physiological puberty in females is characterized by physical, hormonal, and genital changes. However, a single specific parameter to early identify these modifications does not exist; its identification could be extremely useful in the evaluation of pubertal development disorders. The uterine artery pulsatility index (PI), defined as systolic peak – diastolic peak/average speed of maximum flow, is an expression of vascular compliance in the uteri...

Background: GnRH analogs (GnRHa) have been used in the management of central precocious puberty (CPP). The response to GnRHa treatment are evaluated by clinical, hormonal, and ultrasonographic criteria. However, a single parameter to define the adequacy of therapy is not defined. The uterine artery pulsatility index (PI), defined as systolic peak – diastolic peak/average speed of maximum flow, is an expression of vascular compliance in the uterine artery. Circulating estr...

Background: Klinefelter syndrome is the most common sex chromosome disorder (prevalence: 1/600 newborn males), characterized by at least one extra X chromosome. If the diagnosis is not made prenatally, the disorder can remain unknown until pubertal or adult age. Kabuki syndrome, instead, is a rare, dysmorphic syndrome (1:32 000 newborn) characterized by distinctive facial features, multiple anomalies, and mental retardation. About 50–80% of cases are due to de novo</e...

Background: Impaired linear growth and low IGF1 levels, strictly related to poor glycemic control have been reported in children with type 1 diabetes (T1DM).Objective and hypotheses: We studied growth and growth factors in 91 T1DM young patients, 54 males (age: 11.73±3 years, disease duration: 5.2±2.9 years). All subjects were on intensive insulin therapy: 72 children by multiple injection therapy (MI), 19 children by continuous subcutaneous in...

Background: Disorders of sex development (DSD) are congenital conditions in which chromosomal, and gonadal or anatomical sex is atypical.Objective and hypotheses: We describe the case of a 46,XX newborn with ambiguous genitalia. 46,XX DSD set in differential diagnosis disorders of gonadal development (ovotesticular DSD, testicular DSD, gonadal dysgenesis), androgen excess of fetal (mainly congenital adrenal hyperplasia due to deficiency of 21-hydroxylase...

Background: Poor linear growth is still one of the main concerns in children with congenital adrenal hyperplasia (CAH). An impairment of linear growth, adversely affecting final height, has been related both to overtreatment with glucocorticoid replacement therapy and to poor control of adrenal androgen levels.Objective and hypotheses: To define factors that influence linear growth and final height in patients with classical CAH.Me...

Background: Patients who had undergone hematopoietic stem cell transplantation (HSCT) during childhood have been reported to have a higher risk of early metabolic syndrome (MS) and diabetes mellitus (DM) with a consequent increased risk of cardiovascular disease. Previous studies reported a cumulative incidence of abnormal glucose tolerance of 11.6% at 5 years from HSCT and of 69.3% at 10 years and a prevalence of MS of 32% at 4 years from HSCT.Objective...