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...

hrp0092p3-209 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Pituitary Hyperplasia as a Complication of Severe Hypothyroidism due to Hashimoto's Thyroiditis Could Impair Pituitary Function

Corica Domenico , Granata Francesca , Galletta Karol , Wasniewska Malgorzata

Introduction: Long-standing primary hypothyroidism is an unusual cause of pituitary hyperplasia (PH) in children, sometimes difficult to distinguish on CT or MRI from primary pituitary tumors. Loss of thyroxine feedback determines overproduction of thyrotropin releasing hormone (TRH) and subsequent TSH-releasing cells hyperplasia in the anterior pituitary. Levothyroxine replacement therapy has been shown to usually determine regression of PH.<p class="abst...

hrp0089p3-p024 | Adrenals and HPA Axis P3 | ESPE2018

The P30L Mutation in the CYP21A2 Gene in a Girl with Congenital Adrenal Hyperplasia with Hidden Salt Loosing and Central Precocious Puberty

Akulevich Natallia , Boiko Julia , Mirabelli Silvestro , DeLuca Filippo , Wasniewska Malgorzata

In CAH due to 21-OH deficiency, phenotype-genotype correlation is known. However, the same genetic events may cause different clinical forms of the disease. A case of CAH associated with the P30L in the CYP21A2 gene in presented. The Caucasian girl was born normally and growing healthy till the age of 3.y., when her mother noticed pubic hair growth; at the age of 4 she had acne and an increasing sweating. At 6 y. of age, she was brought to paediatric endocrinologist f...

hrp0092rfc5.1 | Thyroid | ESPE2019

Hurthle Cell Carcinoma in Childhood: Retrospective Analysis of a Large Series

Pepe Giorgia , Valenzise Mariella , Zirilli Giuseppina , Cannavò Laura , Tuli Gerdi , Corrias Andrea , Wasniewska Malgorzata

Background: in general population Hurthle cell cancer (HCC) accounts for 3-7% of all differentiated thyroid cancers (TC) with a more aggressive course, while its relative prevalence and behavior in childhood is uncertain due to the lack of specific literature reviews.Objective: to describe the largest pediatric HCC cohort to date reported and to estimate its relative prevalence among TC variants in childhood.<p c...

hrp0092p2-147 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

A Rare Cause of Pediatric Hypoglycemia in a Boy: A Malignat Insulinoma

Valenzise Mariella , Zirilli Giuseppina , Cannavo' Laura , Passanisi Stefano , Li Pomi Alessandra , Wasniewska Malgorzata

Insulinoma is a rare neuroendocrine tumor, usually benign, but can be life-threatening in causing hypoglycemic accidents. It presents in individuals aged between 8 and 82 years and can occur sporadically or constitute a part of multiple endocrine neoplasia type 1 (MEN-1).The nonspecific-symptoms and small size of these tumors led to difficulties of diagnosis and localization.Here we describe the case of a 11-year-old boy, who came to our attention for a ...

hrp0089p3-p025 | Adrenals and HPA Axis P3 | ESPE2018

Congenital Adrenal Hyperplasia due to a Rare Homozygous Mutation R483P in the CYP21A2 Gene and Coexisting Growth Hormone Deficiency

Akulevich Natallia , Makarava Yulia , Boiko Julia , Mirabelli Silvestro , Wasniewska Malgorzata , DeLuca Filippo

In CAH due to 21-OH deficiency, GH treatment combined to GC and MC replacement is still considered to be experimental. We present a patient who has benefited from such treatment. A baby girl was born in term with clitoromegaly and manifested with salt loose at neonatal period. Low serum morning cortisol and sodium with high potassium and 17-OH levels were found resulted in the clinical diagnosis of CAH. The karyotype was 46,XX. Prednisolone and DOXA, the only available hormone...

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...

hrp0089p1-p136 | Fetal, Neonatal Endocrinology and Metabolism P1 | ESPE2018

Bone Maturation as a Predictive Factor of Catch-up Growth During the First Year of Life in Born Small for Gestational Age Infants: A Prospective Study

Pepe Giorgia , Calafiore Mariarosa , Valenzise Mariella , Morabito Letteria , De Luca Filippo , Wasniewska Malgorzata

Background: About 85–90% of children born small for gestational age (SGA) experience a catch-up growth that occurs mostly during the first year of life and results in a full stature recovery by the age of 2. The remaining 10–15% do not undergo compensatory growth, achieving - if untreated - an adult height approximately 20 cm below their peers.Objective: The aim of this prospective one-center study was to investigate the relation between bone m...

hrp0089p3-p311 | Pituitary, Neuroendocrinology and Puberty P3 | ESPE2018

Congenital Hypopituitarism Associated with Complex Cranio-Vertebral Junction Anomalies

Valenzise Mariella , Pitrolo Elda , Biasi Michele , Santucci Simona , Wasniewska Malgorzata , Luca Filippo De

Background: Abnormalities of cervical spine have been described in association with pituitary anomalies in the context of malformative syndromes with midline defects. Several genes are involved in the control of pituitary gland development, differentiation and function. In particular, the presence of os odontoideum has been reported in one case of pituitary hypoplasia, associated with leg anomalies, renal dysplasia and no aberrations of the BMP4, BMP2 and PTX1 genes. In anothe...

hrp0086p2-p936 | Thyroid P2 | ESPE2016

Thyroid Cancer Presentation in Children is Different than in Young Adults

Cannavo Laura , Wasniewska Malgorzata , Zirilli Giuseppina , Violi Maria Antonia , Vermiglio Francesco , De Luca Filippo

Background: Differentiated thyroid cancer (DTC) in pediatric age might have peculiar course and prognosis.Objective and hypotheses: To compare clinical, biochemical and ultrasound (US) features at diagnosis, histological grading and outcome in two groups of children and young adults with DTC.Method: Clinical, biochemical and imaging characteristics of 63 patients with DTC, diagnosed between 1999 and 2014 in our hospital, were retro...