Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients.

BACKGROUND: Autoimmune Polyglandular Syndrome type 1 (APS-1) is a rare recessive inherited disease, caused by AutoImmune Regulator (AIRE) gene mutations and characterized by three major manifestations: chronic mucocutaneous candidiasis (CMC), chronic hypoparathyroidism (CH) and Addison's disease (AD). METHODS: Autoimmune conditions and associated autoantibodies (Abs) were analyzed in 158 Italian patients (103 females and 55 males; F/M 1.9/1) at the onset and during a follow-up of 23.7 ± 15.1 years. AIRE mutations were determined. RESULTS: The prevalence of APS-1 was 2.6 cases/million (range 0.5-17 in different regions). At the onset 93% of patients presented with one or more components of the classical triad and 7% with other components. At the end of follow-up, 86.1% had CH, 77.2% AD, 74.7% CMC, 49.5% premature menopause, 29.7% autoimmune intestinal dysfunction, 27.8% autoimmune thyroid diseases, 25.9% autoimmune gastritis/pernicious anemia, 25.3% ectodermal dystrophy, 24% alopecia, 21.5% autoimmune hepatitis, 17% vitiligo, 13.3% cholelithiasis, 5.7% connective diseases, 4.4% asplenia, 2.5% celiac disease and 13.9% cancer. Overall, 991 diseases (6.3 diseases/patient) were found. Interferon-ω Abs (IFNωAbs) were positive in 91.1% of patients. Overall mortality was 14.6%. The AIRE mutation R139X was found in 21.3% of tested alleles, R257X in 11.8%, W78R in 11.4%, C322fsX372 in 8.8%, T16M in 6.2%, R203X in 4%, and A21V in 2.9%. Less frequent mutations were present in 12.9%, very rare in 9.6% while no mutations in 11% of the cases. CONCLUSIONS: In Italy, APS-1 is a rare disorder presenting with the three major manifestations and associated with different AIRE gene mutations. IFNωAbs are markers of APS-1 and other organ-specific autoantibodies are markers of clinical, subclinical or potential autoimmune conditions.

Gonadal function in males with autoimmune Addison's disease and autoantibodies to steroidogenic enzymes.

Steroidogenic enzyme autoantibodies (SEAbs) are frequently present and are markers of autoimmune premature ovarian failure (POF) in females with autoimmune Addison's disease (AAD). The prevalence and significance of SEAbs in males with AAD have not yet been defined. We studied the prevalence of SEAbs in a large cohort of males with AAD and assessed the relationship between SEAbs positivity and testicular function. A total of 154 males with AAD (mean age 34 years) were studied. SEAbs included autoantibodies to steroid-producing cells (StCA), detected by immunofluorescence, and steroid 17α-hydroxylase (17α-OHAbs) and side chain cleavage enzyme (SCCAbs) measured by immunoprecipitation assays. Gonadal function was evaluated by measuring follicle-stimulating hormone (FSH), luteinizing hormone (LH), total testosterone (TT), sex hormone-binding globulin (SHGB), anti-müllerian hormone (AMH) and inhibin-B (I-B). Twenty-six males, 10 SEAbs((+)) and 16 SEAbs((-)), were followed-up for a mean period of 7·6 years to assess the behaviour of SEAbs and testicular function. SEAbs were found in 24·7% of males with AAD, with the highest frequency in patients with autoimmune polyendocrine syndrome type 1 (APS-1). The levels of reproductive hormones in 30 SEAbs((+)) males were in the normal range according to age and were not significantly different compared to 55 SEAbs((-)) males (P > 0·05). During follow-up, both SEAbs((+)) and SEAbs((-)) patients maintained normal testicular function. SEAbs were found with high frequency in males with AAD; however, they were not associated with testicular failure. This study suggests that the diagnostic value of SEAbs in males with AAD differs compared to females, and this may be related to the immunoprivileged status of the testis.

Thymic hyperplasia in patients with Graves' disease.

BACKGROUND: Graves' disease (GD) is commonly associated with other autoimmune conditions, and there is also a rare but well documented association between GD and thymic hyperplasia (TH). It is hard to say the real frequency of this latter association because most cases remain asymptomatic and are consequently not thoroughly investigated. MATERIALS AND METHODS: We reviewed the literature on GD-related thymus enlargement and found 107 cases published to date. Thymic cancer was only documented in four patients, while the majority of cases were diagnosed as TH. The causative mechanisms behind TH associated with GD have yet to be fully elucidated. Several studies support the hypothesis of a TSH receptor antibody (TRAb) mediating thymic enlargement. RESULTS: We report on a female GD patient with an incidentally discovered anterior mediastinal mass. Our case is not consistent with the hypothesis of a TRAb-mediated mechanism because the thymus reached its largest volume at the onset of GD and shrank during remission of GD under medical treatment, despite persistently positive TRAb levels. CONCLUSION: We support the hypothesis that two different pathogenic mechanisms might be responsible for thymus enlargement: thymic cortical tissue expansion seems to be due to a hyperthyroid state, while lymphoid hyperplasia appears to correlate with immune abnormalities underlying GD.

[Emigration, immigration, and the composition of classes in Italy in the 1970s]. / Emigrazione, immigrazione e composizione di classe in Italia negli anni '70

PIP: Labor force trends in Italy during the 1970s are analyzed, with particular reference to labor force participation by women. Migration trends, including migration from Italy to the rest of Europe, from developing countries to Italy, and from the south to the north of Italy, are reviewed. Factors affecting female labor force participation that are considered include the depression, the austerity program, inflation, automation in factories, computerization in offices, stratification of the labor force, decentralization, domestic labor, and the feminist movement. The effect of these factors on women's attitude toward reproduction is also considered.^ieng

Nevo epidermico asociado a queratosis pilar: a proposito de un caso / Epidermic nevus associate by pillar keratosic: a purpose of one case

Se presenta un paciente de 15 años de edad, quien presenta un nevo epidérmico hiperplásico, rodeado por áreas de queratosis pilar. Además presenta un nevo spilus en espalda. Todos los exámenes tendientes a detectar la presencia de alteraciones neurológicas, oftalmológicas u óseas, fueron negativas, se realiza tratamiento co 5 fluoracilo tópico asociado a tretinoina local, con buena respuesta