ESPE Abstracts

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: Cleidocranial dysplasia (CCD; MIM 119600) is a rare congenital autosomal dominant skeletal dysplasia characterized by hypoplastic or aplastic clavicles, late closure of the fontanelles, open skull sutures, dental anomalies, moderately short stature and a variety of other skeletal features. CCD is caused by mutations, deletions or duplications in the runt-related transcription factor 2 gene (RUNX2), which encodes for a protein essential for osteoblast differentiatio...

Background: Several studies have investigated the effects of GH replacement therapy (GHRT) on thyroid function in children with GH deficiency (GHD) leading to contrasting results. Indeed, GHRT has been reported to affect the peripheral metabolism of thyroid hormones, to alter TSH secretion by pituitary and to unmask secondary hypothyroidism.Objective and hypotheses: To evaluate long-term effects of GHRT on thyroid function in a large cohort of GHD childr...

Background: Prader–Willi syndrome (PWS) is a relatively common multisystem disorder with a prevalence estimated in several studies to be in a range of one in 10 000–30 000 individuals.Objective and hypotheses: For the first time to our knowledge, we describe the case of a couple of twin, naturally conceived, monochorionic diamniotic, both affected by PWS.Method: The gravida 3 para 1 mother was 43, and the father 40, at th...

Background: Perinatal factors seem to influence the onset of puberty. There is some evidence suggesting that being born small for gestational age (SGA) is associated with early puberty, whereas the effect of large size at birth on timing of puberty is not clear.Objective and hypotheses: To evaluate the timing of puberty in children born SGA and large for gestational age (LGA) compared to children born appropriate for gestational age (AGA).<p class="a...

Background: Virtual environments have proved to be successful for educational purposes in different fields. Multimedia applications might be used to consolidate and internalize informations and behavioral strategies in type 1 diabetic children.Aim: In the last years our Diabetology Division and the Department of Informatics co-created many multimedia applications (edutainments, virtual environments, role serious games, electronic diary smartphone apps, a...

Background: GH deficiency (GHD) in adults has been consistently associated with increased adiposity and decreased lean mass. Data in childhood are still scanty and the most appropriate tools to assess body composition in these children remain to be established.Objective and hypotheses: To evaluate the effects of GHD and GH replacement therapy (GHRT) on body composition in GHD children and make a comparison between DXA and anthropometric measures in evalu...

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: Mutations in the 17β-hydroxysteroid dehydrogenase (17βHSD 3) result in 46,XY disorder of sex development (DSD). Biochemical hallmark of 17βHSD 3 deficiency is a Testosterone/Androstenedione ratio (T/A ratio) <0.8. 17βHSD 3 mutations have been associated with a wide spectrum of phenotypes, ranging from under-virilized male to a female appearance of genitalia at birth. Indeed, 17βHSD 3 deficiency in prepubertal patients is often clinicall...