Congenital hypothyroidism in Calabria: epidemiological and clinical aspects.

Neonatal screening of congenital hypothyroidism (CH), carried out on all newborns 3rd -5th day of life, has a very important priority because the incidence of this disease is the highest of all congenital diseases involving brain damage which can be preventable with early specific treatment. In recent years, the values of TSH that were considered pathological were modified and the TSH cut-off, the title of hormone to be taken as the limit of significance for determining a subject suffering from CH, has been progressively lowered. In Calabria the introduction of the new value of TSH cut-off on blood spot, has led to a considerable increase in the frequency of CH, particularly in the case of the thyroid in situ normal ultrasound and of the diagnosis of transitional forms of CH.

Cross-sectional reference data for phalangeal quantitative ultrasound from early childhood to young-adulthood according to gender, age, skeletal growth, and pubertal development.

Bone mineral status by phalangeal quantitative ultrasound (QUS, DBM Sonic, IGEA, Carpi, Modena, Italy) was examined in 3044 (1513 males and 1531 females) healthy subjects, aged 2-21 years. The aim of the study was to provide a reference database for phalangeal QUS parameters, amplitude-dependent speed of sound (AD-SoS) and bone transmission time (BTT), both expressed as centiles and Z score, according to gender, age, height, weight, body mass index (BMI), and pubertal stage to be used for estimating bone mineral status in patients with disorders of growth or of bone and mineral metabolism. In both sexes, AD-SoS and BTT increased significantly (P<0.

Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis.

Context: Congenital hypothyroidism (CH) is a common endocrine disorder with an incidence of 1:3000-4000 at birth. In 80-85% of cases, CH is caused by defects in thyroid organogenesis, resulting in absent, ectopically located, and/or severely reduced gland [thyroid dysgenesis (TD)]. Mutations in genes controlling thyroid development have demonstrated that in a few cases, TD is a Mendelian trait.

Risk factors for congenital hypothyroidism: results of a population case-control study (1997-2003).

Objective: To identify risk factors for permanent and transient congenital hypothyroidism (CH).

Design: A population-based case-control study was carried out by using the network created in Italy for the National Register of Infants with CH.

Methods: Four controls were enrolled for each new CH infant; 173 cases and 690 controls were enrolled in 4 years.

Molecular characterization of six unrelated Italian patients affected by pyrimidine 5'-nucleotidase deficiency.

Pyrimidine 5'-nucleotidase deficiency is a rare autosomal recessive disorder characterized by haemolytic anaemia, marked basophilic stippling and accumulation of pyrimidine nucleotides within the erythrocytes. The gene encoding for this enzyme (P5'N-1) has been cloned recently, and seven mutations have so far been identified in 11 unrelated families. We describe the haematological and molecular characteristics of six unrelated Italian patients affected by pyrimidine 5'-nucleotidase deficiency (one from northern and five from southern Italy).