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Congenital adrenal hyperplasia due to 21‐hydroxylase deficiency (21OHD‐CAH) is an autosomal recessive disorder affecting steroidogenesis, due to mutations in CYP21A2 (6p21.3). 21OHD‐CAH neonatal screening is based on 17‐hydroxyprogesterone (17OHP) serum levels, showing high type I error rate and low sensitivity to mild CAH forms. Here, we used an epidemiological approach, which estimates the allelic frequency (q) of an autosomal recessive disorder using the proportion of homozygous patients, the mutational spectrum and the inbreeding coefficient in a sample of affected individuals. We applied this approach to 2 independent Italian cohorts of patients with both clinical and molecular diagnosis of 21OHD‐CAH from mainland Italy (N = 240) and Sardinia (N = 53). We inferred q estimates of 2.87% and 1.83%, corresponding to a prevalence of 1/1214 and 1/2986, respectively. CYP21A2 mutational spectra were quite discrepant between the 2 cohorts, with V281L representing 74% of all the mutations detected in Sardinia vs 37% in mainland Italy. These findings provide an updated fine‐grained picture of 21OHD‐CAH genetic epidemiology in Italy and suggest the need for a screening approach suitable to the detection of the largest number of clinically significant forms of CAH. [ABSTRACT FROM AUTHOR]

Melon is an important horticultural crop in Italy, grown on surface of ca. 24,000 ha with a total production of 53,000 tons. Collapse, one of most destructive diseases of this crop in Italy, especially in Latium and Sardinia, is a disease with a complex aetiology, to which many fungal pathogens are associated, including Monosporascus cannonballus, Acremonium cucurbitacearum, Plectosporium tabacinum and Rhizopycnis vagum. In this study, the occurrence of collapse in different Italian melon-growing areas was investigated, monitoring the incidence of the main causal agents associated with the disease. M. cannonballus appeared as the prominent species on symptomatic plants in Latium. In Sardinia, M. cannonballus was mostly isolated from melon grown in sandy soils, whereas A. cucurbitacearum was mostly found in heavy clayey soils. In both regions, R. vagum, Macrophomina phaseolina and Fusarium solani were isolated to some extent. Control strategies for the control of collapse of melon are scarce. Soil fumigation is expensive and has a negative environmental impact. No resistant varieties are available, while the use of resistant rootstock is limited by the lower fruit quality of grafted plants. The effectiveness of sustainable control measures was verified in greenhouse in Latium. Early sanitation, use of mycorrhizal inoculum (Glomus intraradices) and of mixed composted amendments proved to decrease significantly disease severity. The evaluation of other control strategies (Trichoderma spp., the use of Brassica green manure and pellets) for the control of the disease is in progress. [ABSTRACT FROM AUTHOR]