APECED syndrome in childhood: clinical spectrum is enlarging.

Autoimmune polyendocrinopathy-candidiasis-ectodermal-distrophy (APECED) is a rare autosomal recessive disease, which is mainly characterized by the association of many autoimmune diseases, with a classic triad including chronic mucocutaneous candidiasis, hypoparathyroidism and adrenocortical failure. Its clinical spectrum has significantly enlarged in the last years and other non-classic components have been recently described. Aim of this review was to alert pediatricians to these novel clinical aspects of this syndrome, that have been recently included among the autoimmune APECED manifestations: a) chronic lung disease, that may evolve to cor pulmonale and terminal respiratory failure; b) chronic inflammatory demyelinating polineuropathy, with progressive muscular weakness of both arms and legs and sensory loss; c) gastrointestinal dysfunction, with recurrent diarrhea, malabsorption and steatorrhea or chronic constipation. For each of these novel components of APECED, specific autoantibodies against either lung autoantigens or peripheral nerves or tryptophan hydroxylase have been just recently identified.

Thyrotropin serum levels and coexistence with Hashimoto's thyroiditis as predictors of malignancy in children with thyroid nodules.

Thyroid cancer (TC) in childhood is a rare disease characterized by an excellent prognosis. Thyroid nodules in children, although less common than in adults, have a greater risk of malignancies, particularly in those cases associated with anamnestic, clinical and ultrasonographic risk factors.Among the factors, which have been found to be linked with an increased relative risk of TC in children, an important role seems to be possibly played by an underlying nodular Hashimoto's thyroiditis (HT) and by the serum levels of TSH.Aim of this Commentary was to specifically address this last point.According to the available pediatric literature on the relationships between these risk factors and phenotypical expression of TC in children, it is possible to conclude that: 1) It is not completely clarified if HT per se predisposes to malignancy or if it represents an incidental histologic finding in cases with TC or if it may be the result of an immune response against tumoral cells. 2) It is unclear whether phenotypic expression of TC is more severe in the cases with associated HT but normal TSH serum levels. 3) Persistently elevated TSH levels play an independent role as predictors of the likelihood of TC, especially in children but also in adults. 4) Patients with nodular HT and subclinical hypothyroidism need to be treated with Levothyroxine in order to prevent the development of both TC and severe thyroid dysfunctions.

Phenotypic expression of Hashimoto's thyroiditis is absolutely atypical in girls with Turner syndrome.

BACKGROUND: It is unknown whether phenotypic expression of Hashimoto's thyroiditis (HT) might be conditioned by the association with Turner syndrome (TS). OBJECTIVES: To focus on the most recent pediatric studies concerning epidemiology and biochemical course of HT in TS girls. DESIGN: The epidemiological peculiarities of TS-related HT in pediatric age were compared with those usually observed in non-TS girls with HT and results are summarized in Tables 1 and 2. CONCLUSIONS: 1) phenotypical expression of HT in TS girls is significantly different from that observed in girls without TS; 2) such differences concern the epidemiological picture, the biochemical presentation modes and also the natural history from HT diagnosis onwards; 3) these peculiarities of TS-related HT are not necessarily linked with a specific karyotype.