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...

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-...

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&#...

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...

hrp0084p3-1104 | Pituitary | ESPE2015

Long term Follow-up of a Child Treated with CyberKnife Radiosurgery for ACTH-secreting Pituitary Adenoma after Bilateral Adrenalectomy

Aversa Tommaso , Wasniewska Malgorzata , Francesca Messina Maria , Calafiore Mariarosa , De Luca Filippo

Background: First line treatment for an ACTH-secreting pituitary adenoma is transsphenoidal resection (TSR) of the tumor. Treatment options for patients with recurrent or persistent disease after surgery include another TSR, medical management, bilateral adrenalectomy, radiosurgery, or a combination of these. Radiosurgery represents a potentially curative treatment option for patients with recurrent or persistent disease.Case presentation: A boy was diag...

hrp0084p3-1181 | Thyroid | ESPE2015

Early Discrimination between Transient and Permanent Congenital Hypothyroidism in Children with Eutopic Gland

Messina Maria Francesca , Aversa Tommaso , Salzano Giuseppina , Zirilli Giuseppina , Sferlazzas Concetta , De Luca Filippo , Lombardo Fortunato

Background: Congenital hypothyroidism (CH) is a common condition that occurs in ~1:3000–4000 live births and is one of the most common preventable cause of mental retardation with an early diagnosis and prompt pharmacological treatment. Neonatal screening has abolished this disease but 10% of children originally diagnosed with CH will have a transient form of the disorder and this percentage is increased during the last years due to a lowering of cut-off.<p class="abs...

hrp0094p1-99 | Thyroid A | ESPE2021

Early adiposity rebound in children with congenital hypothyroidism diagnosed by newborn screening

Aversa Tommaso , Corica Domenico , Maria Cecilia Lugara , Messina Francesca , Pepe Giorgia , Wasniewska Malgorzata ,

Background: It is reported that children with congenital hypothyroidism (CH) are at increased risk of developing childhood obesity. Moreover, it is known that the timing of adiposity rebound (AR) in childhood is strongly linked with future obesity. Aims of our study were to explore the timing of AR and to identify factors affecting AR in a cohort of children with CH diagnosed by newborn screening and treated with levothyroxine. Design: one-center, retrospectiv...

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...