hrp0092p3-10 | Adrenals and HPA Axis | ESPE2019

An Unusual Testicular Adrenal Rest Tumor localization in a 15-Year-Old Boy with Congenital Adrenal Hyperplasia

Corica Domenico , Aversa Tommaso , Bottari Antonio , Ascenti Giorgio , Wasniewska Malgorzata

Introduction: Testicular adrenal rest tumor (TART) is the most important cause of infertility in male with congenital adrenal hyperplasia (CAH). TART is a benign tumor, mainly bilateral (75-80%), usually diagnosed in under-treated CAH male with hypercorticotropinemia, which generally regresses after glucocorticoids therapy adjustment. However, it may determine an irreversible damage by compression and toxic-paracrine effects on the surrounding testicular t...

hrp0082p2-d2-550 | Puberty and Neuroendocrinology (1) | ESPE2014

Final Height in a Boy with McCune–Albright Syndrome and Precocious Puberty Treated with Ketoconazole, Cyproterone Acetate, and Leuprolide Acetate Depot for More than 5 Years

Messina Maria Francesca , Aversa Tommaso , Valenzise Mariella , De Luca Filippo

Background: McCune–Albright syndrome (MAS) is a sporadic and rare disorder, clinically defined by the classic triad of cafè-au-lait skin lesions, polyostotic fibrous dysplasia, and peripheral precocious puberty. Precocious puberty is common in girls, but has been reported in only 15% of affected boys. Clinical trials on therapeutic management of precocious puberty in MAS boys are limited to case reports or small patient cohorts and no data are reported about final he...

hrp0092p2-186 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Clinical Features in a Patient with Turner Syndrome and Pericentric Inversion of Chromosome 9

Valenzise Mariella , Passanisi Stefano , Pomi Alessandra Li , Zirilli Giuseppina , Messina Maria Francesca , Aversa Tommaso

Turner syndrome (TS) patients are at risk for a constellation of neurocognitive and psychosocial diseases. TS is associated with an increased risk for difficulties with visual–spatial reasoning, visual–spatial memory, attention, executive functioning, motor, and math skills. Additionally, increased rates of social difficulties, anxiety, and depression are observed.Here we report the case of a 16-years-old Caucasian girl who came to our attentio...

hrp0089p2-p178 | Fat, Metabolism and Obesity P2 | ESPE2018

Oxidative Homeostasis Dysregulation May Promote Pathogenesis of Cardio-metabolic Complications in Childhood Obesity

Corica Domenico , Aversa Tommaso , Ruggeri Rosaria Maddalena , Cristani Mariateresa , Panasiti Ilenia , Luca Filippo De , Wasniewska Malgorzata

Introduction: Advanced glycation end-products (AGEs) are heterogeneous groups of irreversible adducts resulting from non-enzymatic glycation and glyoxidation of proteins, lipids, and nucleic acid. AGEs and its cell receptor RAGE have been involved in the pathophysiology of cardiovascular and metabolic diseases. Interaction of AGEs with RAGE results in an increased generation of oxygen radicals and increased expressions of pro-inflammatory cytokines. Circulating soluble AGE rec...

hrp0082p1-d2-25 | Autoimmune Endocrine Disease | ESPE2014

Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy: New Insights into Phenotype and Genotype*

Valenzise Mariella , Aversa Tommaso , Fierabracci Alessandra , Porcelli Paolo , Betterle Corrado , De Luca Filippo

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...

hrp0082p2-d3-560 | Puberty and Neuroendocrinology (2) | ESPE2014

Adult Height Outcome of Girls with Idiopathic Central Precocious Puberty Treated with GnRH Analogs is Irrespective of BMI

Aversa Tommaso , Valenzise Mariella , Wasniewska Malgorzata , Messina Maria Francesca , Santisi Alessandra , De Luca Filippo

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&#...

hrp0082p2-d1-596 | Thyroid | ESPE2014

Factors Useful to Distinguish between Children with Permanent Congenital Hypothyroidism and Transient or Permanent Hyperthyrotropinemia

Francesca Messina Maria , Ramistella Vincenzo , Aversa Tommaso , Valenzie Mariella , De Luca Filippo

Background: Screening for congenital hypothyroidism (CH) with the possibility of an early treatment has transformed the outlook for children with CH. Despite the unquestioned public health success of newborn screening programs, the management of CH is still controversial. Most patients with positive screening have permanent hypothyroidism but some of them may have transient hyperthyreotropinemia, so it is important to identify these patients in order to avoid lifelong unnecess...

hrp0082p3-d2-829 | Growth (1) | ESPE2014

Cross-Sectional and Prospective Study of the Effects of GH Therapy on Metabolic Panel in Children with GH Deficiency

Ramistella Vincenzo , Wasniewska Malgorzata , Valenzise Mariella , Aversa Tommaso , Arasi Stefania , Velletri Maria Rosa , De Luca Filippo

Background: Numerous studies have shown that GH, in addition to promoting linear growth, exerts a key role in many metabolic processes. However, there are only few studies aiming at evaluating the metabolic panel of children with GH deficiency (GHD). The aims of the study were: to verify the presence of metabolic alterations in GHD children in comparison with age-matched controls and to check the possible effects of 2 year GH therapy on the metabolic parameters in GHD.<p c...

hrp0082p3-d1-905 | Pituitary | ESPE2014

Key-Role of TSH Deficiency in Disclosing Craniopharyngioma Diagnosis in a Short Girl with Hashimoto’s Thyroiditis

Aversa Tommaso , Valenzise Mariella , Zirilli Giuseppina , Catena Mariaausilia , De Luca Filippo , Wasniewska Malgorzata

Background: Hashimoto’s thyroiditis (HT) in childhood may present with either euthyroidism (52.1% of cases), or primary overt hypothyroidism (22.2%), subclinical hypothyroidism (19.2%), overt hyperthyroidism (3.5%), or subclinical hyperthyroidism (3%). In a large series of 608 children and adolescents with presenting HT, we found in no cases a biochemical picture with low free thyroxine (FT4) and normal or low-normal TSH serum levels, i.e. a thyroid pattern tha...

hrp0084p2-171 | Adrenals | ESPE2015

Acute Adrenal Failure in a Term Newborn with Congenital Cytomegalovirus Infection: Case Description and Review of the Literature

Marseglia Lucia , Alterio Tommaso , Manti Lauretta , Aversa Tommaso , Calafiore Maria Rosa , Gitto Eloisa , Wasniewska Malgorzata

Background: Bilateral adrenal haemorrhage is rare in the neonates and more rarely does it manifest itself as acute adrenal insufficiency (AI). Cytomegalovirus (CMV)-associated AI is a well-known in adults with acquired immunodeficiency syndrome. AI is not a common finding in children with congenital CMV infection. We describe herein the case of a newborn infant presenting with adrenal hematomas (AH), AI and congenital CMV infection.Case report: A 20 day-...