Urinary organic acids spectra in children with altered gut microbiota composition and autistic spectrum disorder.

Introduction: Alteration of human gut microbiota is described in a number of neuro-developmental and cognitive disorders including autistic spectrum disorder (ASD). Along with the changes in the gut microbiota, children with ASD are also reported to have changes in urinary organic acid spectra implying these metabolites as potential biomarkers for gastrointestinal dysbiosis.Aim: Identify urinary metabolites that would indicate specific changes in the gut microbiota and could be useful as biomarkers.Methods: The study group consisted of 44 children with ASD. Urinary organic acids spectra and composition of gut microbiota were analysed.Results: Any significant deviation in quantified metabolites compared to the reference values were not confirmed. The main variations were detected in concentration of p-cresol and 3-(3-hydroxyphenyl)-3-hydroxypropionic acid (HPHPA), but we cannot confirm the presence of HPHPA in urine as a biomarker for Clostridium sp. overgrowth in the gut. The acquired results indicate higher relative abundance of Firmicutes phylum alone may be attributed to increased concentration of p-cresol in urine. Decreased Bacteroidetes/Firmicutes ratio was found in the group with the presence of HPHPA in urine.Conclusions: Metabolites of human urine can be used as biomarkers for alterations of gut microbiota with caution, guided treatment should be administrated only based on gut microbiota analysis results or in combination with urinary organic acid results, but not solely based on organic acid biomarkers.

Bilateral ovarian fibromas in a 15-year-old primary amenorrhea patient: a case report.

A 15-year-old female with primary amenorrhea, obesity, and insulin resistance, was admitted for further examination due to large pelvic masses found during a transabdominal ultrasound, which was performed while assessing the amenorrhea. The magnetic resonance imaging showed bilateral, multifocal fibrosing tumors, originating from both ovaries. A laparotomy was performed, during which the right ovary masses were enucleated and the left adnexectomy was performed. A histological examination of the tissue material revealed bilateral ovarian fibromas with calcification and ossification. The genetic examination confirmed the diagnosis of Gorlin syndrome. The patient recovered well, and on the first follow-up 1 month after surgery, already experienced her first spontaneous menstrual bleeding.