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...

hrp0082p2-d1-265 | Adrenals & HP Axis | ESPE2014

Two Brothers with Late Onset Apparent Mineralocorticoid Excess

Morandi Grazia , Maines Evelina , Malesani Francesca , Cavarzere Paolo , Gaudino Rossella , Antoniazzi Franco

Background: Apparent mineralocorticoid excess (AME) is a rare congenital autosomal recessive disorder resulting from mutations in the HSD11B2 gene, which encodes the kidney isozyme of 11-β-hydroxysteroid dehydrogenase type 2, inactivating circulating cortisol to the less-active metabolite cortisone. Less than 100 cases of AME have been reported in the literature so far. Affected individuals have elevated renal concentrations of cortisol, which can cross-react and activate...

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...

hrp0084p3-967 | GH & IGF | ESPE2015

Usefulness of Reevaluation of Growth Hormone Secretion During Puberty

Cavarzere Paolo , Ramaroli Diego , Lauriola Silvana , Morandi Grazia , Gaudino Rossella , Antoniazzi Franco

Background: Endogenous GH secretion physiologically increases during puberty. In particular, a correlation between GH levels and pubertal stages can be stated. Therefore, it is possible that some patients with childhood-onset GH deficiency (GHD) at puberty normalize their GH secretion. Finally, there are not so far assessed potential predictors of persistent GHD in patients during puberty.Objective and hypotheses: Our study aims evaluating the normalisat...

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...