A case of Klinefelter syndrome, mosaicism (46,XY/47,XXY), associated with anorexia nervosa

Abstract

We report the case of a 12.4-yr-old boy who presented Klinefelter syndrome (KS) mosaicism (46,XY/47,XXY), associated with mental retardation and anorexia nervosa (AN). KS was undiagnosed before hospitalization in a psychiatric unit. The patient was referred to a child psychiatric unit for restrictive eating. The medical history showed long standing feeding difficulties and failure to thrive. The patient was pre-pubertal and other clinical characteristics were: microcephaly, short stature and dysmorphic traits. Cytogenetic analysis revealed a mosaicism, 46,XY[11] and 47,XXY[19] karyotype. The psychiatric assessment demonstrated the presence of AN and low mood. No specific pathophysiological links between the alterations of KS and the development of AN should be hypothesized on the basis of this case report. In pre-pubertal boys with mental disorders, the possibility of KS should be considered, independently of the presence of eating disorders. Nevertheless, the case shows that KS can be first detected during an assessment for eating disorders. Few cases of the association of KS with AN have been previously reported in literature. This is the first description of KS, mosaicism (46,XY/47,XXY), associated with AN and mental retardation. This case report illustrates the need, for clinicians who work with eating disorders, to investigate the possible association between AN and KS, a rare but intriguing one.

Association of autism diagnosis and polygenic scores with eating disorder severity

“…Participation in ANGI‐SE required individuals to complete questionnaires and contribute a blood sample, and it is therefore likely that individuals with more severe autism (e.g., with co‐occurring intellectual disability), which is usually detected early, did not participate in ANGI‐SE. The prevalence of AN, bulimia nervosa, and binge‐eating disorder in individuals with severe autism/intellectual disability is not well‐known, mainly limited to case reports, and often related to genetic syndromes (Gritti et al., 2011) indicating that their overlap is not very common. Thus, although our sample might not fully reflect the heterogeneity of the population with autism, we believe that it is relatively representative of individuals with autism and AN, bulimia nervosa, binge‐eating disorder, or ED not otherwise specified.…”

Concurrence of Anorexia Nervosa and Noonan Syndrome

“…There have been several reports of AN patients with Turner syndrome (Callewaert, & Vandereycken, 2007;Muhs, & Lieberz, 1993;Skałba, Jez, & Kabzińska, 2002), even though prevalence of Turner syndrome is rare: 1 in 2000-2500 girls (Sybert, & McCauley, 2004). Few case reports of Kleinefelter syndrome have been associated with AN (Gritti et al, 2011). However, to date, there have been no reports of comorbidity of AN and NS.…”