Medicine and Health Sciences Commons^™

Do Males With 45,X/46,Xy Mosaicism Have Turner Syndrome, Michelle Knoll

Research Days

Background: Patients with 45,X/46,XY mosaicism can have genitalia spanning the range from typical female to typical male, and the sex assigned at birth is often based on the appearance of the genitalia. According to current nomenclature, only the subgroup assigned female are diagnosed with Turner syndrome (TS) (Gravholt et al, 2017). Clinical practice guidelines recommend that girls with TS be screened for several comorbidities, including short stature, cardiac and renal anomalies, and autoimmune conditions, but there are no recommendations for screening of boys with 45,X/46,XY mosaicism.

Objectives/Goal: We sought to determine if boys with 45,X/46,XY mosaicism exhibited a similar rate …

Medical Neglect: Trends In Reporting Practices And Patient Characteristics, Danielle Horton

Research Days

Background: Medical neglect, an important but less commonly recognized subset of child maltreatment, has significant consequences on child health and well-being. Improved processes for defining, recognizing, and reporting medical neglect are needed, however there is limited published data on the subject. Insight into patient characteristics and current reporting practices will help identify areas for intervention to improve outcomes for children at risk for medical neglect.

Objectives/Goal: To describe characteristics of children identified for concern of medical neglect and trends in reporting of cases to child protective services (CPS).

Methods/Design: We performed a 1-year retrospective descriptive study of subjects < 18 years of age at a single, tertiary-care, academic pediatric institution for whom a Patient at Risk (PAR) assessment was completed exclusively for the concern of medical neglect. The PAR is a unique institutional process by which health professionals and social workers document concerns for child maltreatment. Medical records were reviewed for data regarding demographics, medical history, health care utilization and psychosocial risk factors. The role of the initiating provider and healthcare setting in which the PAR was recorded were also obtained.

Results: Of …