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

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  • Vol. 16: e69-e71, March 2011



    First online ahead ofpublication November 4,2010 as DOI: 10.3275/7329.Key words:Anorexia nervosa, Klinefeltersyndrome, adolescence, childpsychiatry, comorbidity.Correspondence to:Dr. Antonella Gritti,Cattedra di NeuropsichiatriaInfantile, Seconda Universitdi Napoli,Via Pansini 5, 80131 Naples,Italy.E-mail:antonella.gritti@unina2.itReceived: June 23, 2010Accepted: October 20, 2010

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


    Klinefelter syndrome (KS) is the mostcommon sex chromosome disorder thatoccurs in 1/500 to 1/700 male births (1).

    In most cases, the karyotype is 47,XXY,whereas the mosaicism (46,XY/47,XXY)accounts for 10% of the cases (2).

    The phenotype associated with the KSkaryotype is male hypogonadism, androgendeficiency, and impaired spermatogenesis.The classic signs of KS are: small testes,gynecomastia, sparse body hair, increasedstature and infertility. There is though a widevariability in clinical expression and patientswho do not exhibit the syndrome classicphysical features may elude the diagnosis. Adelay in diagnosis is frequent because onlydiscrete physical anomalies may be apparentin KS males before puberty (1, 2).

    Several psychological difficulties, intellec-tual and psychiatric disorders have beendescribed in subjects with KS. Compared toother males of the same age, adolescentswith KS are more sensitive, insecure andhave more problems with peer groups and

    less sexual interest in girls (3). Somepatients might present poor school perfor-mance, delay in speech and language acqui-sition and also dyslexia (4-6). Mental retar-dation is most common in 48,XXXY;49,XXXXY variants; nevertheless patientswith a normal global Intelligence Quotient(IQ) range may have a reductions in verbalIQ scores (4, 6-8).

    It is well know that subjects with KS are atrisk for psychiatric disorders and that indi-viduals referred to psychiatrists for emo-tional or behavioral disturbances often pre-sent an undiagnosed KS syndrome (7, 9).The most frequent psychiatric disordersobserved in patients with KS are: anxiety,depression, psychosis and schizophrenia-spectrum pathology (10, 11). At the moment,a few cases of KS associated with anorexianervosa (AN) have been described (12, 13).The reason of comorbidity with AN isunknown; el-Badri and Lewis (13) notedthat difficulties in body image are commonin both diseases and stated that KS physicalfeatures provide the milieu for the develop-ment of AN.

    A. Gritti1, F. Salerno1, S. Pisano1, F. Formicola1, D. Melis2, and A. Franzese2

    1Department of Psychiatry, Child Neuropsychiatry, Audiophonology and Dermatology, Second University ofNaples, 2Department of Pediatrics, University Federico II, Naples, Italy

    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 wasreferred to a child psychiatric unit for restrictive eating. The medical history showed longstanding feeding difficulties and failure to thrive. The patient was pre-pubertal and other clin-ical characteristics were: microcephaly, short stature and dysmorphic traits. Cytogeneticanalysis revealed a mosaicism, 46,XY[11] and 47,XXY[19] karyotype. The psychiatric assess-ment demonstrated the presence of AN and low mood. No specific pathophysiological linksbetween the alterations of KS and the development of AN should be hypothesized on thebasis of this case report. In pre-pubertal boys with mental disorders, the possibility of KSshould be considered, independently of the presence of eating disorders. Nevertheless, thecase shows that KS can be first detected during an assessment for eating disorders. Fewcases of the association of KS with AN have been previously reported in literature. This is thefirst description of KS, mosaicism (46,XY/47,XXY), associated with AN and mental retarda-tion. This case report illustrates the need, for clinicians who work with eating disorders, toinvestigate the possible association between AN and KS, a rare but intriguing one.(Eating Weight Disord. 16: e69-e71, 2011). 2011, Editrice Kurtis

  • A. Gritti, F. Salerno, S. Pisano, et al.

    We report the case of a male with an undiag-nosed KS associated with AN and mental retar-dation.


    The patient, a 12.4-yr-old boy, was admittedas in-patient in our psychiatric university clinicfor a restrictive eating disorder associated withbehavioral problems.

    Family historyThe patient was the first child of non-consan-

    guineous parents. The mother suffered fromdepression, no other psychiatric disorders hadbeen diagnosed in the family.

    The environmental background consisted oflow socioeconomic status and family discord.

    Patients historyThe pregnancy was reported to be normal.

    Delivery was at term with no post-natal compli-cations.

    Parents reported a normal childhood devel-opment of their son with the exception of mod-erate language delay. School problems werealso referred. The patient was described asinsecure and dependent.

    Medical history was significant for longstanding feeding difficulties, selective eating,failure to thrive and recurrent abdominal pain.Since the age of 2 yr, the patient underwentrepeated pediatric investigations. At the age of12, the patient was hospitalized in a pediatricclinic. Both basic and second line investigationswere performed: a biochemical profile, stoolculture, examinations for parasites, tests forsugar malabsorption and for celiac disease,abdominal ultrasonic study, gastrointestinalendoscopy. The patient was diagnosed withgastroesophageal reflux and treated withomeprazole. At the time of gastroscopy(EGDS), the patient showed anxiety, motorexcitement and intense fear of dying. He laterdeveloped a more severe food restriction (

  • Klinefelter syndrome and anorexia nervosa

    family might have contributed to underestimatemild signs of dysmorphisms.

    No specific pathophysiological links betweenAN and KS can be hypothesized at the moment.In pre-pubertal boys with mental disorders, thepossibility of KS should be considered, inde-pendently of the presence of eating disorders.

    Nevertheless, the case shows that a KS canbe first detected during an assessment for eat-ing disorders. Parents, indeed, might be oftenmore concerned with eating disorders thanwith dysmorphic features in their children.

    This case report shows the need, for clini-cians working with mental disorders, eatingdisorders included, to consider the associationbetween AN and KS, a rare but intriguing one.

    This is the first description of a KS mosaicism(46,XY/47,XXY) associated with AN and mentalretardation.


    1. Lanfranco F, Kamischke A, Zitmann M, et al.Klinefelters syndrome. Lancet 2004; 364: 273-83.

    2. Achermann JC, Hughes IA. In: Kronenberg HM,Melmed S, Polonsky KS, et al. (Eds) Williams Textbookof Endocrinology. 11th ed. Philadelphia, Saunders,2008, pp 801-3.

    3. Simm PJ, Zacharin MR. The psychosocial impact ofKlinefelter syndrome. A 10 year review. J PediatrEndocrinol Metab 2006; 19: 499-505.

    4. Geschwind DH, Boone KB, Miller BL, et al. Neuro-behavioral phenotype of Klinefelter syndrome. MentRetard Dev Disabil Res Rev 2000; 6: 107-16.

    5. Vawter MP, Harvey PD, DeLisi LE. Dysregulation of X-linked gene expression in Klinefelters syndrome andassociation with verbal cognition. Am J Med Genet BNeuropsychiatr Genet 2007; 144B: 728-34.

    6. Ross JL, Roeltgen PD, Stefanatos G, et al. Cognitive

    and motor development during childhood in boys withKlinefelter Syndrome. Am J Med Genet A 2008; 146A:708-19.

    7. Ratcliffe S. Long term outcome in children of sex chro-mosome abnormalities. Arch Dis Child 1999; 80: 192-5.

    8. Kalifa MM, Struthers JL. Klinefelter syndrome is acommon cause for mental retardation of unknown eti-ology among prepubertal males. Clin Genet 2002; 61:49-53.

    9. Geschwind DH, Dykens E. Neurobehavioral and psy-chosocial issues in Klinefelter syndrome. Learn DisabilRes Pract 2004; 19: 166-73.

    10. Van Rijn S, Aleman A, Swaab H, et al. Klinefelterssyndrome (karyotype 47,XXY) and schizophrenia-spec-trum pathology. Br J Psichiatry 2006; 189: 459-60.

    11. Boks MP, de Vette MH, Sommer IE, et al. Psychiatricmorbidity and X-cromosomal origin in a Klinefeltersample. Schizophr Res 93, 2007: 399-402.

    12. Hindler CG, Norris DL. A case of anorexia nervosawith Klinefelters syndrome. Br J Psychiatry 1986; 149:659-60.

    13. el-Badri SM, Lewis MA. Anorexia nervosa associatedwith Klinefelter's syndrome. Compr Psychiatry 1991;32: 317-9.

    14. Kaufman J, Birmaher B, Brent D, et al. Schedule forAffective Disorders and Schizophrenia for School-AgeChildren-Present and Lifetime Version (K-SADS-PL):initial reliability and validity data. J Am Acad ChildAdolesc Psychiatry 1997; 36: 980-8.

    15. Achenbach TM. Manual for the child behavioral check-list/4-18 and 1991 profiles. Burlington, University ofVermont, Department of Psychiatry, 1991. Italian edi-tion: Milano, Ghedini, 2001.

    16. Kovacs M. Childrens Depression Inventory. 1982.Italian edition: Camuffo M, Cerutti R, Lucarelli L, et al(Eds) Organizzazioni Speciali Firenze, 1988.

    17. Maloney MJ, McGuire JB, Daniels SR. Reliability test-ing of a childrens version of the Eating Attitude Test. JAm Acad Child Adolesc Psychiatry 1988; 27: 541-3.

    18. American Psychiatryc Association. Diagnostic andStatistical Maual of Mental Disorders (4th ed) TextRevison. Washington, American Psychiatric Press,2000. Italian edition: Milano, Masson, 2002.

    e71Eating Weight Disord., Vol. 16: N. 1 - 2011


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