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...

hrp0084p3-985 | 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:...

hrp0095p2-272 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

A Rare HSD17B3 Gene Variant Presenting Virilization at Puberty: Management and Treatment in Adolescent Age.

Berveglieri Vittoria , Folgheraiter Valentina , Di Paola Rossana , Bertelloni Silvano , Baldinotti Fulvia , Dal Ben Sarah , Cavarzare Paolo , Antoniazzi Franco , Gaudino Rossella

Introduction: Pathogenetic mutations in the HSD17B3, located on chromosome 9q22, lead to 17β-hydroxysteroid dehydrogenase type 3 (17β-HSD3) isoenzyme deficiency, etiopathogenetic for a disorder of sex development (DSD) with 46 XY karyotype and female phenotype at birth. 17β-HSD3 isoenzyme, expressed at testicular tissue, catalyzes the synthesis of testosterone from Δ4-androstenedione, allowing the correct development of male external genit...

hrp0092rfc9.3 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Neonatal Screening for Congenital Hypothyroidism: Analysis of a Large Coorte of Affected Patients (1987-2017) and Relationship with Perfluoroalkylated Substances (Pfas) in North-Eastern Italy

Gaudino Rossella , Beccherle Federico , Cavarzere Paolo , Lauriola Silvana , Camilot Marta , Teofoli Francesca , Vincenzi Monica , Rizzoli Christian , Antoniazzi Franco

Background: Recent studies have analyzed the influence of perfluoroalkylated substances – PFAS (in particular PFOS and PFOA) on people and thyroid. Children are primaly affected by these pollutants. On the other side variation of incidence of congenital hypothyroidism (CH) has been shown in recent years by different studies. We sought to determine whether the incidence of CH in north-eastern Italy has changed in relation to some endocrine disruptors and t...

hrp0082p2-d3-443 | Growth Hormone (2) | ESPE2014

The Effect of Two Different GH Dosages on Final Height and Bone Geometry

Lupi Fiorenzo , Bozzola Mauro , Buzi Fabio , Longhi Silvia , Mascolo Amelia , Pilotta Alba , Porto Rossella , Ruffinazzi Giulia , Zattoni Valentina , Radetti Giorgio

Background: GH has a strong positive influence on bone stimulating both bone elongation and increase in size by enhancing the accrual of trabecular and cortical bone up to the attainment of peak bone mass in young adult.Aim of the study: We compared the effect of two different GH dosages on statural growth and bone geometry in two groups of GH-deficient children at final height. Data has been collected retrospectively from 1994 to 2013.<p class="abst...