Can Boys Have Turner Syndrome? More than a Question of Semantics

Abstract

Individuals with 45,X mosaicism with Y chromosome material raised as boys are not diagnosed with Turner syndrome, a label restricted to phenotypic females. We sought to determine if boys with 45,X mosaicism had features consistent with Turner syndrome. Twenty-two patients (14 girls, 8 boys) seen in our Differences of Sex Development (DSD) clinic were identified for review. Standardized height (z-scores) by sex of rearing and results of cardiology, renal, audiology, thyroid, and celiac screenings were recorded. All subjects had heights below the mean for sex. Z-scores were not significantly different between boys and girls (<i>p</i> = 0.185). There were no significant differences in the incidence of cardiac anomalies between boys and girls (<i>p</i> = 0.08). Girls were more likely to have additional screenings (<i>p</i> = 0.042), but there were no significant differences in the number of positive screenings between boys and girls (<i>p</i> = 0.332). Patients with 45,X mosaicism raised as boys appear to have features similar to patients with the same karyotype raised as girls. Routine screening of boys following the Turner Syndrome Clinical Practice Guidelines may allow early recognition of comorbidities. Additionally, obtaining karyotypes on boys with short stature or other features of Turner syndrome may identify unrecognized cases of 45,X mosaicism.