hrp0084p2-552 | Thyroid | ESPE2015

Even in the Era of Congenital Hypothyroidism Screening Mild and Subclinical Sensorineural Hearing Loss Remains a Relatively Common Complication of Severe Congenital Hypothyroidism

Bruno Rocco , Aversa Tommaso , Catena Mariaausilia , Valenzise Mariella , Messina Maria Francesca , De Luca Filippo , Wasniewska Malgorzata

Background: Only few studies have focused on neurosensory hearing function of patients with congenital hypothyroidism (CH) identified by CH screening programs and treated early and, therefore, this issue remains still controversial.Objective and hypotheses: The aim of this study was to ascertain whether an early and adequate replacement treatment may be able to prevent sensorineural hearing loss in 32 screened children with CH and no associated risk fact...

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...

hrp0084p3-1104 | 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...

hrp0094p1-198 | Thyroid B | ESPE2021

Novel single nucleotide variation in DUOX2 and NPTX1 genes in two Sardinian sisters with transient congenital hypothyroidism

Ibba Anastasia , Guzzetti Chiara , Casula Letizia , Murianni Agnese , Persani Luca , Loche Sandro ,

Introduction: Transient congenital hypothyroidism (TCH) refers to a temporary deficiency of thyroid hormone identified after birth, with low thyroxine (T4) and elevated thyrotropin (TSH). Approximately 17%-40% of children diagnosed with CH by newborn screening (NBS), have transient hypothyroidism. Levo-thyroxine (L-T4) early treatment is recommended at the dose 10-15 µg/kg/day. Children with thyroid gland in situ should be re-evaluated after the ...

hrp0094p2-293 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Effects of GH replacement therapy on body composition and muscle health in children and adolescents with GH deficiency: one-year prospective case-control study.

Improda Nicola , Capalbo Donatella , Di Mase Raffaella , Di Pinto Rosita , Alicante Paola , Scalfi Luca , Salerno Mariacarolina ,

Background: The effects of GH deficiency (GHD) and GH replacement therapy (GHRT) on body composition and functional measures of physical fitness are largely unknown particularly in children.Study aim: To evaluate body composition, muscular strength and flexibility, and exercise tolerance in GHD children at baseline and after one-year GHRT.Patients and methods: We enrolled 19 children and adolescents with untreated ...

hrp0094p2-346 | Pituitary, neuroendocrinology and puberty | ESPE2021

The clinical and biochemical spectrum of pituitary lesions in children compared to adults: experience from a single tertiary center

Galazzi Elena , Carrara Silvia , Soranna Davide , Zambon Antonella , Maria Fatti Letizia , Moro Mirella , Persani Luca ,

We present a monocentric cross-sectional study of 55 children referred between 2000 and 2020 for pituitary lesions, who underwent a complete pituitary function assessment. These data were compared to results obtained in a group of 295 adults carrying pituitary lesions undergoing a complete pituitary screening. Follow-up data was available for 50 children and 248 adults. The mean age at diagnosis in children was 12.2±3.7 years (range 2.1-17.9), while in adults was 48.7&#17...

hrp0094p2-358 | Pituitary, neuroendocrinology and puberty | ESPE2021

Pubertal induction in girls with hypogonadism: preliminary prospective data of efficacy in patients with/without initial overnight estrogen replacement

Rodari Giulia , Federici Silvia , Persani Luca , Arosio Maura , Bonomi Marco , Giavoli Claudia ,

Background: Pubertal induction in girls with hypogonadism through estrogen replacement therapy (ERT) aims at the development of secondary sexual characteristics, cognitive functions, uterine growth and maturation, bone mass accrual and linear growth. To date, the best induction regimen, capable of assuring both physiological gradual progression through Tanner stages and effective uterine development, is still to be established.Patients a...

hrp0097p1-542 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Comparation between syndromic and non-syndromic central precocious puberty: a 10-year experience

Assirelli Valentina , Ortolano Rita , Baronio Federico , Di Natale Valeria , Cantarelli Erika , Bernardini Luca , Cassio Alessandra

Introduction: Central Precocious Puberty (CPP) has recently been described in patients with isolated or syndromic neurodevelopmental disorders, with greater attention from the scientific community. We carried out this study to compare the main aspects of non-isolated and isolated forms of CPP.Methods: We conducted a retrospective monocentric study, collecting all treated cases of CPP from 1st January 2013 to 31 December ...