hrp0084p2-554 | Thyroid | ESPE2015

Hypoceruloplasminemia as a Marker of Severe Hypothyroidism

Valenzise Mariella , Sferlazzas Concetta , Porcaro Federica , Messina Maria Francesca , Wasniewska Malgorzata , Cinquegrani Maurizio , De Luca Filippo

Background: Hypothyroidism may be also a rare cause of acquired hypoceruloplasminemia. It has recently been underlined a role for thyroid hormone in the normal developmental regulation of ceruloplasmin (cp).Case presentation: A 3-year-old Caucasian girl was admitted to our clinic for recurrent pericarditis, fatigue and muscle weakness. Her family history was remarkable for Hashimoto’s thyroiditis and Graves disease. Her recent personal history was s...

hrp0084p3-951 | GH & IGF | ESPE2015

Predictors of Response to rhGH Treatment in 125 Children with Short Stature of Various Aetiologies

Ioimo Irene , Mussa Alessandro , Vannelli Silvia , Verna Francesca , Borraccino Alberto , Matarazzo Patrizia

Background: Response to rhGH treatment is extremely variable in pediatric growth disorders; predictors of the response are not yet clearly determined, due to disomogeneity of studied cohorts.Aims and objectives: To investigate the correlation between clinical parameters and height gain after the 1st year of rhGH treatment and at the last visit in eight different aetiologies of short stature, with the aim of identifying predictors of response to rhGH trea...

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...

hrp0084p3-1144 | Puberty | ESPE2015

Central Precocious Puberty in Cerebral Palsy

Bruzzi Patrizia , Messina Maria Francesca , Bartoli Alessandra , Lucaccioni Laura , Predieri Barbara , De Luca Filippo , Iughetti Lorenzo

Background: Children affected by cerebral palsy (CP) could experience central precocious puberty (CPP) 20 times more than general population. Nevertheless, the treatment is challenging.Objective and hypotheses: To compare CPP features and the effects of gonadotropin-releasing hormone agonist therapy (GnRHa) in children with CP and in controls.Method: The study involved 16 children with CPP and CP (median age (range) at diagnosis of...

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...

hrp0094p1-145 | Sex Endocrinology and Gonads B | ESPE2021

Serum anti-Müllerian hormone as a marker of ovarian reserve among childhood cancer survivors

Molinari Silvia , Parissone Francesca , Evasi Veronica , Marco Santo Di , Biondi Andrea , Cattoni Alessandro ,

Introduction: Female patients treated with alkylating agents in childhood are at risk for ovarian impairment. We aimed at describing the pattern of residual ovarian function in a cohort of hematological cancer survivors, assessing the relationship between the cumulative dose of alkylating agents administered (expressed as Cyclophosphamide Equivalent Dose - CED) and Anti-Müllerian Hormone (AMH) levels.Methods: Gonada...

hrp0097p1-180 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Clinical, radiological and laboratory characteristics of thelarche variant: a retrospective analysis

Tamaro Gianluca , Lorenzon Beatrice , Burlo Francesca , Peinkhofer Martina , Faleschini Elena , Tornese Gianluca

Background: ‘Thelarche variant’ (TV), also known as ‘unsustained/slowly progressive puberty’ or ‘exaggerated thelarche’, is a term used to describe girls with premature thelarche and intermediate features between isolated premature thelarche (PT) and central precocious puberty (CPP). Despite being characterized by a FSH predominant response and by a peak LH response <5 IU/L to GnRH test, a univocal definition is lacking.<...

hrp0097p2-38 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Combined pituitary hormone deficiency caused by a missense de novo variant in FGFR1

Cavallaro Paola , Francesca Messina Maria , Aversa Tommaso , Pepe Giorgia , Wasniewska Malgorzata , Corica Domenico

Background: Heterozygous loss-of-function variants of fibroblast growth factor receptor 1 (FGFR1) are genetic causes of Combined Pituitary Hormone Deficiency (CPHD), Kallmann syndrome (KS) with anosmia/iposmia, Congenital Hypogonadotropic Hypogonadism (CHH) with normosmia and Septo-Optic Dysplasia. It is well-known that these variants are the main genetic factor underlying the development of CHH and KS; however, they have only occasionally been identified in C...

hrp0082p3-d3-787 | Fat Metabolism &amp; Obesity (2) | ESPE2014

Obese Teenagers and Risk of Injuries During School Physical Activity

Lemma Francesco , Messini Beatrice

Background: Injuries occur frequently in the obese young population even if they need to practice physical activity. The greatest part of Italian adolescents plays sports only at school.Objective and hypotheses: The aim of the study was to investigate the relationship between overweight and obesity, and the risk of injuries in adolescents during school physical activity.Method: This is a retrospective cohort study utilizing the ele...