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...

hrp0084p2-552 | 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...

hrp0084p3-914 | Fat | ESPE2015

Association of Serum Levels of 25(OH) Cholecalciferol and Childhood Obesity

Iezzi Maria Laura , Varriale Gaia , Megalooikonomou Anastasios , Di Loreto Simona , Zagaroli Luca , Torge Nunzia

Background: Vitamin D is now recognised as a prohormone, essential for the maintenance of mineral homeostasis, calcium metabolism and normal skeletal architecture. 30 ng/ml or greater can be considered sufficient serum levels. The prevalence of vitamin D deficiency among severely obese children is almost 49% caused by the fact that it is sequestered in the larger body pool of fat of such individuals, being vitamin D fat soluble. Vitamin D deficiency has been recently associate...

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 ...