ESPE Abstracts

Background: Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal-Distrophy (APECED) is a rare autosomal recessive disease, caused by mutations of AIRE gene on chromosome 21. It is characterized by three main diseases: chronic mucocutaneous candidiasis (CMC), chronic hypoparathyroidism (HP) and Addison’s disease (AD).Objective and hypotheses: In this paper we review the clinical phenotypes and the genotypes of pediatric Sicilian population affected b...

Background: Intensive insulin treatment allows a good metabolic control and prevents long-term complications. Basal-bolus regimen is the best treatment for children with type 1 diabetes T1D but requires several insulin injections a day. The needle-fear and discomfort felt by the child and parents/caregivers for insulin administration is one of the main obstacle to good compliance.Objective and hypotheses: To compare glycemic control and satisfaction with...

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: GnRH analogs (GnRHa) have been used in treatment of idiopathic central precocious puberty (ICPP) for several decades. Their effectiveness on adult height (AH) improvement has been widely studied and is still debated.Objective and hypotheses: To assess whether BMI changes in ICPP girls during GnRHa treatment can influence AH.Method: A retrospective study of 131 ICPP girls (mean age at diagnosis: 7.6±0.7, range 4.3&#...

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: Hypothyroidism has been associated with cognitive and motor impairments, the degree to which mild hypothyroidism, or subclinical hypothyroidism impacts mood and cognitive functions and whether these symptoms respond to treatment, remains controversial. Furthermore, hypothyroidism is associated with an increased susceptibility to depression and reductions in health-related quality of life.Objective and hypotheses: Recent longitudinal studies s...

Background: Autoimmune polyendocrine syndrome type 2 (APS2) is a complex disorder characterised by the obligatory occurrence of Addison disease in combination with thyroid autoimmune disorder and/or type 1 diabetes. APS 2 is the most common autoimmune polyendocrine syndrome and is primarily manifest in adult age. Premature ovarian failure (POF) is defined as sustained amenorrhea before the age of 40 years, FSH levels higher than 40 UI/l and hypoestrogenism associated with infe...

Background: An association between type 1 diabetes mellitus (T1DM) and idiopathic generalized epilepsy is reported. Some authors suggest an autoimmune mechanism mediated by antibodies to glutamic-acid-decarboxylase (GAD), that is an enzyme involved in the synthesis of the neurotransmitter GABA. Dravet syndrome (DS) is a rare, severe epilepsy disorder characterized by febrile hemiclonic seizures or generalized status epilepticus starting at 6 months of age. In classical DS, a d...

Background: Early predictors of cardiovascular risk using anthropometric and laboratory variables available in the general practice in obese children are poorly identified.Objective and hypotheses: To identify best predictors of early cardiovascular risk in obese children between anthropometric and laboratory parameters.Method: Cardiovascular risk was determined by measuring intima-media thickness of the right common carotid artery...