Congenital hypothyroidism

Screening neonatale esteso

Malni I, Candela E, Baldo F, Assirelli V, Daniotti M, Procopio E, Ruoppolo M, Pession A.

2023/9 — pag. 563-567 — DOI

Newborn screening is a test performed in the first days of life through which, just with some blood drops, it is possible to identify 49 conditions, including cystic fibrosis, congenital hypothyroidism, and numerous inborn errors of metabolism. The i...

Disordini tiroidei nel bambino e nell’adolescente con trisomia 21

Molinari S, Fossati F, Gazzarri A, Lazzerotti A, Barzaghi S, Ocello L, Grimaldi C, Nicolosi ML, Biondi A, Cattoni A.

2023/6 — pag. 374-380 — DOI

Thyroid function disorders are the most frequently detected medical complication among patients with trisomy 21, with a reported prevalence ranging from 4-8% in childhood to 50% or more in adulthood. Over 1% of newborns with Down syndrome show clinic...

AAA tiroide cercasi

A. Trombetta, G. Tamaro, F. Alberti, G. Tornese

2019/9 — pag. 573-576

The paper presents the case of a newborn with congenital hypothyroidism and iatrogenic hyperthyroidism after replacement treatment at proper dosage was started. Laboratory findings suggested the diagnosis of ectopic thyroid gland that was confirmed...

Il neonato a colori: le sfumature di grigio

G. Corsello, M. Schierz

2019/7 — pag. 455-456

Questa dialisi non s’ha da fare

M. Pennesi

2015/10

La carenza di iodio in età evolutiva

R. Gastaldi, C. Panicucci, E. Poggi, G. Romanisio, M. Maghnie

2015/1 — pag. 39-43

Iodine is a trace element essential for the synthesis of thyroid hormones, thyroxine (T4) and triiodothyronine (T3). The main source of supply is represented by food, but the content of iodine in food is variable being milk, dairy, bread, eggs, fis...

Lattante ipotonico con apnee

F. Parata, I. Giovannini, M. Bellettato

2013/3

Le patologie della tiroide nell’infanzia e nell’adolescenza

F. Chiarelli, S. Agostinelli

2012/3 — pag. 157-167

Thyroid diseases are the most common endocrinopathies in childhood and adolescence. Congenital hypothyroidism affects infants from birth. The neurocognitive outcome of these patients has been much improved with the newborn screening programmes. Aut...

Screening neonatale metabolico allargatoIn arrivo una nuova realtà per la pediatria

I. Bruno, A. Ventura, A. Burlina

2010/7 — pag. 429-433

Newborn expanded screening is slowly starting in Italy. The programme will screen some rare, most metabolic, diseases that could be managed and treated better if diagnosed in the first days of life. The program has been adopted in many countries in...

L'ipotiroidismo dalla nascita in poi

I. Berti, I. Giuseppin, R. Meneghetti

2005/3

Il neonato con il gozzo

G. Bartolozzi

2002/1

L’ipotiroidismo congenito

G. Tonini, M. Lazzerini

1999/8 — pag. 481-488

The incidence of Primary Congenital Hypothyroidism (PCH) is about 1:2000. Most cases are due to a dysgenetic/ectopic thyroid. Only in a small minority of cases a defect in the iodine metabolism is present. Congenital hypothyroidism secondary to a d...