Background/Objectives: To date, approximately 360 pathogenic variants of the OCRL gene have been reported, including frameshift, substitution, gross inversion, nonsense, and missense mutations. These genetic alterations have been associated with a broad phenotypic spectrum of Lowe syndrome, contributing to considerable variability in disease severity and clinical presentation. Missense variants are typically associated with preserved messenger RNA expression in fibroblasts, whereas more deleterious mutations result in markedly reduced expression of the OCRL transcript or protein product. Pathogenic variants in the OCRL gene have also been identified in patients with Dent’s disease type 2. Case presentation: This case report describes a pediatric male patient with autism spectrum disorder and renal dysfunction, who was found to harbor a variant of uncertain clinical significance in the OCRL gene and a pathogenic 16p11.2 chromosomal deletion. The patient, a 12-year-old boy with autism, presented with proteinuria during hospitalization for febrile gastroenteritis and streptococcal infection. Further evaluation revealed focal glomerulosclerosis, tubular calcium phosphate deposits, albuminuria, and hypercalciuria. Ophthalmologic examination additionally demonstrated bilateral lens opacities in the absence of congenital cataracts, as well as hyperopia. The coexistence of these clinical manifestations together with the identified OCRL gene variant raises the possibility of an atypical presentation of Dent disease type 2. Nevertheless, continued clinical and genetic follow-up remains warranted to further clarify the pathogenic significance of the detected variant and to establish a definitive diagnosis. Conclusions: The uniqueness of this case resides in the coexistence of two independent genetic findings presenting a phenotype-attribution challenge. Furthermore, the identified phenotype may warrant consideration as a possible previously unreported phenotypic presentation situated along the clinical spectrum between Lowe syndrome and Dent disease type 2. The main contribution of this report is to illustrate the interpretative challenges of a concurrent pathogenic 16p11.2 deletion and an OCRL variant of uncertain significance in a patient with renal disease and neurodevelopmental features.

Background: Exposure to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), whether via infection or vaccination, seems to influence the character of the menstrual cycle by disrupting hormonal and immune function. Methods: The main aim of this cohort study was to explore the association between exposure to SARS-CoV-2—through either vaccination or infection—and menstrual disorders in adolescent females. We also aimed at identifying the most prevalent menstrual disorders observed and assessing potential differences between the exposure groups that may contribute to these conditions. Results: This study included data from adolescent females who visited the Center for Adolescent Medicine and UNESCO Chair in Adolescent Health Care due to various menstrual disorders. Data from 92 adolescents, 77 participants exposed to SARS-CoV-2 and 15 controls, were retrieved. Significant associations were found between exposure to SARS-CoV-2 and abnormally frequent uterine bleeding (p = 0.032) and abnormal uterine bleeding (p = 0.025). Adolescents with a past confirmed case of coronavirus disease 2019 (COVID-19) demonstrated significantly lower serum concentrations of fibrinogen (p = 0.023) and iron (p = 0.03), as well as higher γ-GT concentrations (p = 0.028), than those who were non-infected, whereas vaccinated adolescents presented with significantly lower concentrations of coagulation factors VIII (p = 0.002), vWFAg (p = 0.023), and Rcof (p = 0.007) than those of their unvaccinated peers. Overall, adolescents exposed [infection (or/and) vaccination] to SARS-CoV-2 demonstrated increased estradiol (E2) concentrations compared to those of the controls. In conclusion, adolescent exposure to SARS-CoV-2 was strongly linked to abnormal uterine bleeding and polymenorrhea, potentially due to decreased coagulation factors or increased E2 concentrations. Conclusions: Further research involving larger samples and a more sophisticated design is needed to validate these findings.