Search

A 14-year-old boy with a 46,XY karyotype and persistent breast-3-stage gynecomastia is reported. The reproductive axis was investigated by standard laboratory methods and the androgen receptor (AR) gene was sequenced. Also, a literature review of phenotypes associated with the AR genetic variant p.Pro392Ser was performed. The boy presented with height in the upper normal range (+1.9 SDS) and normal body mass index (−0,3 SDS); pubertal development was PH5/G4 (mean testicular volume 15 mL; 0 SDS). Laboratory findings were normal for age and sex, except aromatization index (0.09; reference range 0.03–0.07). Analysis of the AR gene showed the single nucleotide variant c.1174C>T (p.Pro392Ser) in exon 1, leading to the diagnosis of minimal androgen insensitivity syndrome (AIS). This genetic variant is reported in other 8 patients with AIS and is associated with variable clinical phenotypes ranging from complete to partial and minimal AIS. To the best of our knowledge, this is the first adolescent in whom the p.Pro392Ser mutation is associated with isolated persistent gynecomastia. The underlying reason of phenotypic variability due to this AR mutation remains unknown. Persistent gynecomastia due to minimal AIS has been reported in few additional males with variable AR mutations. Since fertility troubles may occur in adult men with minimal AIS, early diagnosis can allow optimizing the clinical management.

Climate change (CC) is expected to negatively impact respiratory health due to air pollution and increased aeroallergen exposure. Children are among the most vulnerable populations due to high ventilation rates, small peripheral airways, and developing respiratory and immunological systems. To assess the current knowledge among Italian pediatric pulmonologists on the potential effects of CC on pediatric respiratory allergic diseases, a national survey was launched online from February 2020 to February 2021. The members of the Italian Pediatric Respiratory Society (SIMRI) were contacted by email and 117 questionnaires were returned (response rate 16.4%). 72.6% of respondents were females, 53.8% were academic pediatricians, 42.7% had been working >10 years. Most of the participants were aware of the potential health effects of CC and stated that they had noticed an increase in the incidence (90.6%) and severity (67.5%) of allergic respiratory diseases among their patients. About 61% and 41% of participants respectively felt that there had been an increase in the number of children sensitized to pollen and molds. When applying latent class analysis to identify the features characterizing participants with greater awareness and knowledge of CC-related health effects, two classes were identified: almost 60% of the participants were labeled as “poor knowledge” and those with greater awareness were older, had longer work experience, and were those using the Internet to gather information about CC. There is urgent need to increase pediatricians' awareness of the detrimental effects of CC on children's respiratory health and integrate them in the educational programs of healthcare professionals.