A pediatric case of Chlamydia psittaci caused severe Acute Respiratory Distress Syndrome (ARDS) in Italy.

BACKGROUND: This case of psittacosis in children, is the first described in literature, in Italy. This respiratory infection can be transmitted to humans from the inhalation of respiratory secretions, feces and plumage aerosol of infected birds (and other animals). Usually it can have an asymptomatic or paucisymptomatic course, and the onset is often flu-like, but in this case the child risked his life for a severe respiratory failure. This report is unique because in children psittacosis is rare, and always misdiagnosed, or could cause a delayed diagnosis because of lack of awareness among the paediatricians and physicians. Furthermore, psittacosis enters a differential diagnosis with SARS-COV2 infection because both diseases may determine dyspnea and atypical pneumonia, up to acute respiratory failure. CASE PRESENTATION: This clinical case talks about a three-and-a-half-year-old male child affected by psittacosis (or ornithosis), with severe dyspnea and systemic symptoms who required oro-tracheal intubation for acute respiratory failure. The child had slept in a room at home, with some recently bought parrots affected by psittacosis. Initially the child was treated with empiric antibiotic therapy (i.v.ceftriaxone and teicoplanin), but after having isolated the DNA of the germ "Chlamydia psittaci" in both serological and through bronchoalveolar lavage (BAL), he was treated with targeted antibiotic therapy: tetracyclines (doxicillin). CONCLUSIONS: Psittacosis is an extremely contagious disease, caused by an intracellular germ, called "Chlamydia psittaci", a Gram-negative bacterium, transmitted to humans in particular by infected birds, responsible for atypical pneumonia, with acute and chronic respiratory symptoms, sometimes with multi-organ failure and disseminated intravascular coagulation. Even if it is a rare respiratory disease among children, a good doctor must think about psittacosis as cause of respiratory symptoms (and not only flu or SARS-COV2), above all through a correct medical history, in order to provide a targeted antibiotic therapy. An interesting case of psittacosis in a child is being reported here, which has been treated successfully with doxycillin.

Clinical and hormonal characteristics in heterozygote carriers of congenital adrenal hyperplasia.

Non-classical congenital adrenal hyperplasia (NC-CAH) includes a group of genetic disorders due to a broad class of CYP21A2 variants identifying a disease-causing 'C' genotype. The heterozygous carriers of CYP21 mutations are at increased risk of developing clinically evident hyperandrogenism, even though clinical and laboratory characteristics are still underestimated. With the aim of obtaining a more accurate delineation of the phenotype of heterozygous carrier of CAH, we analyzed clinical, biochemical and molecular characteristics in a cohort of Sicilian subjects. Fifty-seven females with biallelic and monoallelic CYP21A2 variants classifying NC-CAH (24) and heterozygous carriers of CAH (33), respectively were selected. Forty-four females age-matched healthy controls were also enrolled and genotyped for CYP21A2. Clinical, hormonal and genetic data were collected. CYP21A2 monoallelic mutations, defining the heterozygous carriers state, were identified in subjects with clinical features including hirsutism, oligomenorrhoea, overweight and a PCO-like phenotype, particularly occurring in the age of adolescence. Consistently, levels of 17OHP and cortisol were found to be significantly different from NC-CAH. Overall, some clinical and laboratory findings including oligomenorrhea and 17OHP/cortisol ratio were observed as independent markers associated with carriers of CAH. Here we report a high prevalence of late-onset signs of polycystic ovary syndrome (PCOS) and hyperandrogenism in heterozygous carriers. The 17OHP/cortisol ratio may be a predictive tool to identify the carriers of CAH, even though specific cut-off values have not yet been identified.