hrp0084p2-510 | Pituitary | ESPE2015

Chronic Inappropriate Antidiuresis in Childhood: Experience with Tolvaptan

Gaudino Rossella , Piona Claudia , Morandi Grazia , Cavarzere Paolo , Brugnara Milena

Background: The syndrome of inappropriate antidiuresis (SIAD) is one of the most common causes of hyponatremia: it’s a disorder of sodium and water balance, characterized by urinary dilution impairment and hypotonic hyponatremia, in the absence of renal disease or any non-osmotic stimulus, able to induce antidiuretic hormone (ADH) release. SIAD can be manifestation of a wide range of diseases, including cancer, head trauma, hydrocephalus and epilepsy. Usually transient an...

hrp0086p1-p474 | Fat Metabolism and Obesity P1 | ESPE2016

Switching Patients with Congenital Hyperinsulinism from Standard Octreotide to Long-Acting Release Octreotide Preserves Blood Glucose Control and Improves Quality of Life of Their Caregivers

Piona Claudia , Maines Evelina , Baggio Laura , Gugelmo Giorgia , Cavarzere Paolo , Bordugo Andrea , Gaudino Rossella

Background: Congenital hyperinsulinism (CHI; MIM #256450) is the most common cause of persistent hypoglycaemia in children. Recessive inactivating mutations in KATP channel subunits, encoded by ABCC8 and KCNJ11 genes, are the most common cause of CHI. Mutations of these genes usually cause forms of CHI which in the vast majority of patients are unresponsive to first line medical treatment with diazoxide. Multiple daily standard octreotide injections combine...

hrp0082p2-d3-436 | Growth Hormone (2) | ESPE2014

Reevaluation of GH Secretion During Puberty in Children Diagnosed as GH-deficient During Childhood

Ramaroli Diego , Maines Evelina , Piona Claudia Anita , Morandi Grazia , Gaudino Rossella , Antoniazzi Franco

Background: GH secretion increases physiologically during puberty and GH levels correlate with pubertal stage. Therefore, puberty is the most likely time for normalization of GH secretion in children with GHD. No studies have so far evaluated in children diagnosed as GH-deficient during childhood potential predictors of response to the reevaluation of GH secretion during puberty.Objective and hypotheses: The aim of our study is to establish and compare t...

hrp0082p3-d1-668 | Bone | ESPE2014

Lumbar Spine Areal Bone Mineral Density and 25-Hydroxyvitamin D Serum Concentrations at 2-Year Follow-up in Patients with Osteogenesis Imperfecta

Piona Claudia , Moser Giovanni , Ramaroli Diego , Francesca Malesani , Morandi Grazia , Gaudino Rossella , Antoniazzi Franco

Background: Cyclic treatment with bisphosphonates (BP) is now considered a ‘standard care’ for children with osteogenesis imperfecta (OI). Vitamin D is a necessary nutrient for bone health for all children but especially for those with OI. In the literature few studies have considered the relationship between bone mineral density, vitamin D and pubertal stage in children treated with BP for OI.Objective and hypotheses: The purpose of this study...

hrp0082p3-d1-907 | Pituitary | ESPE2014

A Case of Combined Pituitary Hormone Deficiency in a Patient Affected by Osteogenesis Imperfecta

Maines Evelina , Morandi Grazia , Ramaroli Diego , Piona Claudia Anita , Cavarzere Paolo , Gaudino Rossella , Antoniazzi Franco

Background: Combined pituitary hormone deficiency (CPHD) is a condition that causes deficiency of several hormones produced by the pituitary gland. The first signs of this condition include a failure to grow at the expected rate and short stature that usually becomes apparent in early childhood. Other features of CPHD include hypothyroidism, delayed puberty, and deficiency of the hormonal cortisol. Some conditions may exacerbate the growth failure of CPHD. Osteogenesis imperfe...

hrp0082p3-d2-970 | Sex Development (1) | ESPE2014

A Familial Case of Complete Androgen Insensitivity Syndrome

Maines Evelina , Piona Claudia , Morandi Grazia , Baldinotti Fulvia , Antoniazzi Franco , Gaudino Rossella

Background: Complete androgen insensitivity syndrome (CAIS) is a condition that results in the complete inability of the cell to respond to androgens and falls within the category of 46,XY disorder of sex development (DSD). CAIS is characterized by female external genitalia in a 46,XY karyotype individual with normal testis development but undescended testes and unresponsiveness to age-appropriate level of androgens. The typical presentation is primary amenorrhea in an adolesc...

hrp0084p3-985 | Gonads | ESPE2015

Age at Menarche in Chronic Respiratory Disease: Cystic Fibrosis and Asthma – Comparison with a Large Cohort of Healthy Girls Living in Verona

Gaudino Rossella , Volpi Sonia , Ben Sarah Dal , Piona Claudia , Cavarzere Paolo , Boner Attilio , Antoniazzi Franco

Background: Menarche is a milestone in human sexual development as it denotes the achievement of fertility. Few studies have evaluated the age at menarche (AAM) in chronic respiratory disease.Objective: The main aim of this study is to investigate AAM and menarcheal determinants in girls affected by Cystic Fibrosis or Asthma, and to compare their AAM with healthy girls’ one.Subjects and method: The study was conducted on 1207 ...

hrp0084p3-1003 | Gonads | ESPE2015

Antimullerian Hormone and Inhibin B Markers of the Ovarian Reserve After Ovariectomy

Morandi Grazia , Piona Claudia Anita , Ben Sarah Dal , Ramaroli Diego , Cavarzere Paolo , Antoniazzi Franco , Gaudino Rossella

Background: Ovarian reserve is defined as the functional potential of the ovary, which reflects the number and quality of the follicles left in the ovary at any given time. In literature there studies about the evaluation of ovarian reserve after ovariectomy for tumors and cysts, using serum markers, such as inhibin-B, and anti-Mullerian hormone (AMH), combined to ultrasonographic markers, in adult women but none in peri-pubertal girls.Case presentation:...

hrp0084p1-30 | Diabetes | ESPE2015

A Novel Mutation in the abcc8 Gene Causing a Variable Phenotype of Impaired Glucose Metabolism in the Same Family

Maines Evelina , Hussain Khalid , Flanagan Sarah E , Ellard Sian , Piona Claudia , Morandi Grazia Grazia , Ben Sarah Dal , Cavarzere Paolo , Antoniazzi Franco Franco , Gaudino Rossella

Background: Dominantly acting loss-of-function mutations in the ABCC8 gene, encoding the sulfonylurea receptor 1 (SUR1) subunit of the β-cell potassium channel (KATP), are usually responsible for mild diazoxide-responsive congenital hyperinsulinism (CHI). In rare cases dominant ABCC8 mutations can cause diffuse diazoxide-unresponsive CHI. Recent reports suggest that medically responsive CHI due to a dominant ABCC8 mutation may confer an increase...

hrp0084p3-1242 | Turner | ESPE2015

To Predict Ovarian Function is a Single Determination of AMH Useful in Patients with Turner Syndrome?

Piona Claudia Anita , Cavarzere Paolo , Gaudino Rossella , Ben Sarah Dal , Ramaroli Diego , Gelati Matteo , Guidi Gian Cesare , Salvagno Gian Luca , Antoniazzi Franco

Background: Different studies have underlined the role of anti-Müllerian hormone (AMH) and inhibin B as markers of the ovarian function in paediatric and adolescent patients with Turner syndrome (TS).Objective and hypotheses: Our study aims to verify the role of AMH in a cohort of patients affected by TS.Method: We analysed 23 TS patients, aged 2–34 years, describing their auxological parameters and the pubertal developme...