Presenter Status
Fellow
Abstract Type
Research
Primary Mentor
Jill Jacobson, MD
Start Date
13-5-2021 11:30 AM
End Date
13-5-2021 1:30 PM
Presentation Type
Poster Presentation
Description
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 of comorbidities commonly seen in girls with TS.
Methods/Design: We did a retrospective review of patients with 45,X/46,XY mosaicism seen in our multidisciplinary Differences of Sex Development Clinic. A total of 22 patients (14 raised as female, 8 raised as male) were identified. Results of cardiology, renal, audiology, and thyroid screening were recorded for all subjects, along with celiac screen for subjects older than age 2 years, and A1c, liver function, and vitamin D for subjects older than age 10 years. Height z-score based on sex of rearing before starting growth hormone was obtained. One female subject with congenital adrenal hyperplasia was excluded from height analysis. Data were analyzed using Mann Whitney U and Chi-Square via SPSS (Version 27, IBM).
Results: Although female subjects were significantly more likely to have screening tests performed (92/102 vs 37/58, p
Conclusions: Our data suggest that males with 45,X/46,XY mosaicism have similar rates of comorbidities compared to females with TS with the 45,X/46,XY genotype. The data suggest the need for a multicenter registry to expand these findings. Screening males according to the TS Clinical Practice Guidelines may allow early recognition of comorbidities.
MeSH Keywords
Turner Syndrome; Short Stature
Included in
Bioethics and Medical Ethics Commons, Endocrinology, Diabetes, and Metabolism Commons, Obstetrics and Gynecology Commons, Pediatrics Commons, Primary Care Commons
Do Males with 45,X/46,XY Mosaicism Have Turner Syndrome
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 of comorbidities commonly seen in girls with TS.
Methods/Design: We did a retrospective review of patients with 45,X/46,XY mosaicism seen in our multidisciplinary Differences of Sex Development Clinic. A total of 22 patients (14 raised as female, 8 raised as male) were identified. Results of cardiology, renal, audiology, and thyroid screening were recorded for all subjects, along with celiac screen for subjects older than age 2 years, and A1c, liver function, and vitamin D for subjects older than age 10 years. Height z-score based on sex of rearing before starting growth hormone was obtained. One female subject with congenital adrenal hyperplasia was excluded from height analysis. Data were analyzed using Mann Whitney U and Chi-Square via SPSS (Version 27, IBM).
Results: Although female subjects were significantly more likely to have screening tests performed (92/102 vs 37/58, p
Conclusions: Our data suggest that males with 45,X/46,XY mosaicism have similar rates of comorbidities compared to females with TS with the 45,X/46,XY genotype. The data suggest the need for a multicenter registry to expand these findings. Screening males according to the TS Clinical Practice Guidelines may allow early recognition of comorbidities.
