Anorexia
Nervosa Associated Syndrome
With Klinefelter’s
S.M. El-Badri and M.A. L.&s A second case of anorexia nervosa associated with Klinefelter’s syndrome is described. Gender identity problems were thought to have been significant in this adolescent. Copyright 0 1991 by W.B. Saunders Company
K
LINEFELTER’S SYNDROME was first described by Klinefelter et al. in 1942 in nine males with gynecomastia, small testes, azoospermia, and elevated levels of follicle-stimulating hormone (FSH).’ Subsequently, Plunkett and Barr (1956)’ demonstrated chromatin positivity and Jacobs and Strong (1959)” described the 47,XXY karyotype, which is the usual chromosomal configuration in this syndrome. This chromosomal anomaly is thought to arise from nondisjunction of one of the parental gametes during meiosis. It usually results in hypogonadism, but not all cases develop gynecomastia and some have normal gonadotropin levels. The incidence of the syndrome is 2.0 per 1,000 live-born males and the risk of its occurrence is significantly associated with advanced maternal age.4,5 The syndrome may go undetected in the newborn and early infancy, and is certainly underdiagnosed. The most consistent finding is very small testes (diameter < 3.4 cm). Other features include delayed onset of puberty, diminished facial hair, female pubic hair distribution, obesity, bilateral gynecomastia, infertility, and reduced libido, but usually normal-sized penis. Intellectual ability is usually within the normal range, but mild degrees of mental subnormality are sometimes found. These patients are usually shy, passive, lacking in drive and emotionally unstable,6 immature, self-conscious, and sensitive about their physical appearance.’ A variety of psychiatric disorders have been reported in association with Klinefelter’s syndrome, including an increased frequency of schizophrenic symptomatology, paranoid states, manic-depressive disorder, hysteria1 syndromes, hypochondriasis, reactive depression,4 and a single report of anorexia nervosa.’ A range of personality and behavior problems have also been described, including antisocial and passive-dependent personalities, criminality, alcoholism, and various sexual deviations.4.6,9 The following report describes a patient with features of both anorexia nervosa and Klinefelter’s syndrome. CASE REPORT J., a 15year-old boy, was referred to the Department of Adolescent Psychiatry, St. Luke’s Hospital, Middlesbrough, in December 1989 because of a lack of interest in school and difficulty in mixing with
From the Department ofAdolescent Psychiatry, St. Luke’s Hospital, Middlesbrough, UK. Address reprint requests to S.M. El-Badti, M.B., Ch.B.. Earls House Hospital, Lanchester Rd. Durham DHl5RE, UK. Copyright 0 1991 by W B. Saunders Compan_y 00i0-440Xls~/3204-0016$03.0010 Comprehensive
Psychiatry, Vol. 32, No. 4 (July/August),
1991: pp 317-319
317
EL-BAD!?1 AND LEWIS
318
his peer group. He disclosed that he disliked attending school because of teasing by other pupils about his thin physique. Although his height was 175 cm (almost the 90th percentile) and weight 43 kg (below the 25th percentile), he did not regard himself as thin and did not want to put on any weight. He had always wanted to be slim and was noted to be slow and fussy in eating his meals and preoccupied with his body shape. He was also embarrassed by his high-pitched voice. He denied loss of appetite and there was no evidence of surreptitious vomiting or laxative abuse, although he was physically active. He had been admitted to an Adolescent Forensic Unit in June 1988 for 11 months, after he had become involved with a delinquent group at school, who had encouraged him to truancy and steal money from home. Physical examination showed a tall, thin boy with long arms and legs. His head, at the 10th percentile, was relatively small for his height. His heart rate was slow at 58 beats per minute and his blood pressure was 105/60 mm Hg. Heart auscultation showed a short ejection systolic murmur, grade 116, at the left sternal edge, which was thought to be without clinical significance. Axillary and pubic hair in masculine distribution were present, and his penis was normal in size, but his testes were small at 2.5 cm diameter. Mentally, he presented as effeminate in manner, preoccupied with food and body shape, and phobic about gaining weight. Cytogenetic studies showed a 47,XXY karyotype. All other investigations, including blood count, renal function, electroencephalogram, skull x-ray, and serum testosterone levels, were within normal limits. His intellectual function on the Wechsler scale scored performance 102 and verbal 70, full scale 84. His mother, who worked as a part-time cleaner, was aged 30 years when J. was born. She enjoyed good health, the pregnancy was uneventful, and J. was a full-term normal delivery. He was the youngest of four male children. The eldest, aged 24, worked as a baker, the second, aged 22, was a roofer, and the third, aged 20, was in the Royal Navy. The father, a forceful and masculine man, is now aged 47 years and is employed as a fitter, often on shift work. The parents had been happily married for 24 years. J. displayed little identification with his father and was emotionally closer to his mother. No other psychiatric disorder was reported in the family. No problems were reported in J.‘s early childhood when he attended infant and junior schools. His difficulty in socializing and lack of assertiveness only became apparent when he started at a comprehensive school, where he was observed to mix with girls rather than boys. His hobbies include swimming, gymnastics, ice-skating, and skiing. At first, within the department, J. avoided food and lost weight. He was thought to fulfill the DSM-III-R diagnostic criteria for anorexia nervosa, and so an agreed contract was initiated, which included the ingestion of appropriate daily food quantities under nursing supetvision, together with individual and family psychotherapy of a supportive and reeducative nature. Over a 3-month period his weight fluctuated, reaching a maximum of 48.67 kg, but remained below the norm for his age and height. He was then transferred to day care.
DISCUSSION
Body build is a significant indicator of Klinefelter’s syndrome” and was the reason for initiating cytogenetic studies in this case. The patient also manifested the DSM-III-R criteria for a diagnosis of anorexia nervosa, namely, refusal to maintain body weight to at least 15% below the norm for age and height, intense fear of gaining weight even though underweight, and a distorted self-perception of body size and shape.” Body image and identity conflicts are common in both Klinefelter’s syndrome and male anorexics, so that the former may have provided the conditions for the development of the latter. J.‘s difficulty in mixing with and relating to peer groups is certainly understandable. He is, in fact, now showing increasing gender identification of a feminine orientation, but is less emotionally disturbed. His eating disorder has improved, but continues to need careful monitoring. The diagnosis of Klinefelter’s syndrome has helped the situation as, with the establishment of a physical “cause,” the parents are more accepting of J.‘s
ANOREXIA
NERVOSA
AND KLINEFELTER’S
SYNDROME
319
problems. We would endorse the advice of Hindler and Norris (1986) that atypical cases of male anorexia nervosa should be subjected to chromosomal analysis.” ACKNOWLEDGMENT We are grateful to Dr. K. Davison for helpful comments and to A. Lynas for secretarial help
REFERENCES 1. Klinefelter HF, Reinfenstein EC, Albright F: Syndrome characterised by gynaecomastia, aspermatogenesis without a-Leydigism, and increased excretion of follicle-stimulating hormone. Clin Endocrinol2:615-621, 1942 2. Plunkett ER, Barr ML: Testicular dysgenesis affecting the seminiferous tubules principally with chromatin-positive nuclei. Lancet 2:853, 1956 3. Jacobs PA, Strong JA: A case of human intersexuality having a possible XXY sex-determining mechanism. Nature 183:302-303,1959 4. Nielsen J: Klinefelter’s syndrome and the XXY syndrome. Acta Psychiatr Stand 45:32-172, 1969 (~~~~1209) 5. Kingston HM: ABC of clinical genetics: Chromosomal disorders II. Br Med J 298:813-816, 1989 6. Swanson DW, Stipes AH: Psychiatric aspects of Klinefelter’s syndrome. Am J Psychiatry 126:814-822. 1969 7. Jablensky A, Janota I, Shepherd M: Neuropsychiatric illness and neuropathological findings in a case of Klinefelter’s syndrome. Psycho1 Med 1:18-39, 1970 8. Hindler CG, Norris DL: A case of anorexia nervosa with Klinefelter’s syndrome. Br J Psychiatry 149:659-660, 1986 9. Hoaken CG, Clarke M. Breslin M: Psychopathology in Klinefelter’s syndrome. Psychosom Med 26:207-223. 1964 10. Hunter H: A controlled study of the Psychopathology and physical measurements of Klinefelter’s syndrome. Br J Psychiatry 115:443-448,1969 11. American Psychiatric Association: Diagnostic and Statistical Manual of Mental Disorders (ed 3. revised). Washington DC, APA, 1987
Nervosa Associated Syndrome
With Klinefelter’s
S.M. El-Badri and M.A. L.&s A second case of anorexia nervosa associated with Klinefelter’s syndrome is described. Gender identity problems were thought to have been significant in this adolescent. Copyright 0 1991 by W.B. Saunders Company
K
LINEFELTER’S SYNDROME was first described by Klinefelter et al. in 1942 in nine males with gynecomastia, small testes, azoospermia, and elevated levels of follicle-stimulating hormone (FSH).’ Subsequently, Plunkett and Barr (1956)’ demonstrated chromatin positivity and Jacobs and Strong (1959)” described the 47,XXY karyotype, which is the usual chromosomal configuration in this syndrome. This chromosomal anomaly is thought to arise from nondisjunction of one of the parental gametes during meiosis. It usually results in hypogonadism, but not all cases develop gynecomastia and some have normal gonadotropin levels. The incidence of the syndrome is 2.0 per 1,000 live-born males and the risk of its occurrence is significantly associated with advanced maternal age.4,5 The syndrome may go undetected in the newborn and early infancy, and is certainly underdiagnosed. The most consistent finding is very small testes (diameter < 3.4 cm). Other features include delayed onset of puberty, diminished facial hair, female pubic hair distribution, obesity, bilateral gynecomastia, infertility, and reduced libido, but usually normal-sized penis. Intellectual ability is usually within the normal range, but mild degrees of mental subnormality are sometimes found. These patients are usually shy, passive, lacking in drive and emotionally unstable,6 immature, self-conscious, and sensitive about their physical appearance.’ A variety of psychiatric disorders have been reported in association with Klinefelter’s syndrome, including an increased frequency of schizophrenic symptomatology, paranoid states, manic-depressive disorder, hysteria1 syndromes, hypochondriasis, reactive depression,4 and a single report of anorexia nervosa.’ A range of personality and behavior problems have also been described, including antisocial and passive-dependent personalities, criminality, alcoholism, and various sexual deviations.4.6,9 The following report describes a patient with features of both anorexia nervosa and Klinefelter’s syndrome. CASE REPORT J., a 15year-old boy, was referred to the Department of Adolescent Psychiatry, St. Luke’s Hospital, Middlesbrough, in December 1989 because of a lack of interest in school and difficulty in mixing with
From the Department ofAdolescent Psychiatry, St. Luke’s Hospital, Middlesbrough, UK. Address reprint requests to S.M. El-Badti, M.B., Ch.B.. Earls House Hospital, Lanchester Rd. Durham DHl5RE, UK. Copyright 0 1991 by W B. Saunders Compan_y 00i0-440Xls~/3204-0016$03.0010 Comprehensive
Psychiatry, Vol. 32, No. 4 (July/August),
1991: pp 317-319
317
EL-BAD!?1 AND LEWIS
318
his peer group. He disclosed that he disliked attending school because of teasing by other pupils about his thin physique. Although his height was 175 cm (almost the 90th percentile) and weight 43 kg (below the 25th percentile), he did not regard himself as thin and did not want to put on any weight. He had always wanted to be slim and was noted to be slow and fussy in eating his meals and preoccupied with his body shape. He was also embarrassed by his high-pitched voice. He denied loss of appetite and there was no evidence of surreptitious vomiting or laxative abuse, although he was physically active. He had been admitted to an Adolescent Forensic Unit in June 1988 for 11 months, after he had become involved with a delinquent group at school, who had encouraged him to truancy and steal money from home. Physical examination showed a tall, thin boy with long arms and legs. His head, at the 10th percentile, was relatively small for his height. His heart rate was slow at 58 beats per minute and his blood pressure was 105/60 mm Hg. Heart auscultation showed a short ejection systolic murmur, grade 116, at the left sternal edge, which was thought to be without clinical significance. Axillary and pubic hair in masculine distribution were present, and his penis was normal in size, but his testes were small at 2.5 cm diameter. Mentally, he presented as effeminate in manner, preoccupied with food and body shape, and phobic about gaining weight. Cytogenetic studies showed a 47,XXY karyotype. All other investigations, including blood count, renal function, electroencephalogram, skull x-ray, and serum testosterone levels, were within normal limits. His intellectual function on the Wechsler scale scored performance 102 and verbal 70, full scale 84. His mother, who worked as a part-time cleaner, was aged 30 years when J. was born. She enjoyed good health, the pregnancy was uneventful, and J. was a full-term normal delivery. He was the youngest of four male children. The eldest, aged 24, worked as a baker, the second, aged 22, was a roofer, and the third, aged 20, was in the Royal Navy. The father, a forceful and masculine man, is now aged 47 years and is employed as a fitter, often on shift work. The parents had been happily married for 24 years. J. displayed little identification with his father and was emotionally closer to his mother. No other psychiatric disorder was reported in the family. No problems were reported in J.‘s early childhood when he attended infant and junior schools. His difficulty in socializing and lack of assertiveness only became apparent when he started at a comprehensive school, where he was observed to mix with girls rather than boys. His hobbies include swimming, gymnastics, ice-skating, and skiing. At first, within the department, J. avoided food and lost weight. He was thought to fulfill the DSM-III-R diagnostic criteria for anorexia nervosa, and so an agreed contract was initiated, which included the ingestion of appropriate daily food quantities under nursing supetvision, together with individual and family psychotherapy of a supportive and reeducative nature. Over a 3-month period his weight fluctuated, reaching a maximum of 48.67 kg, but remained below the norm for his age and height. He was then transferred to day care.
DISCUSSION
Body build is a significant indicator of Klinefelter’s syndrome” and was the reason for initiating cytogenetic studies in this case. The patient also manifested the DSM-III-R criteria for a diagnosis of anorexia nervosa, namely, refusal to maintain body weight to at least 15% below the norm for age and height, intense fear of gaining weight even though underweight, and a distorted self-perception of body size and shape.” Body image and identity conflicts are common in both Klinefelter’s syndrome and male anorexics, so that the former may have provided the conditions for the development of the latter. J.‘s difficulty in mixing with and relating to peer groups is certainly understandable. He is, in fact, now showing increasing gender identification of a feminine orientation, but is less emotionally disturbed. His eating disorder has improved, but continues to need careful monitoring. The diagnosis of Klinefelter’s syndrome has helped the situation as, with the establishment of a physical “cause,” the parents are more accepting of J.‘s
ANOREXIA
NERVOSA
AND KLINEFELTER’S
SYNDROME
319
problems. We would endorse the advice of Hindler and Norris (1986) that atypical cases of male anorexia nervosa should be subjected to chromosomal analysis.” ACKNOWLEDGMENT We are grateful to Dr. K. Davison for helpful comments and to A. Lynas for secretarial help
REFERENCES 1. Klinefelter HF, Reinfenstein EC, Albright F: Syndrome characterised by gynaecomastia, aspermatogenesis without a-Leydigism, and increased excretion of follicle-stimulating hormone. Clin Endocrinol2:615-621, 1942 2. Plunkett ER, Barr ML: Testicular dysgenesis affecting the seminiferous tubules principally with chromatin-positive nuclei. Lancet 2:853, 1956 3. Jacobs PA, Strong JA: A case of human intersexuality having a possible XXY sex-determining mechanism. Nature 183:302-303,1959 4. Nielsen J: Klinefelter’s syndrome and the XXY syndrome. Acta Psychiatr Stand 45:32-172, 1969 (~~~~1209) 5. Kingston HM: ABC of clinical genetics: Chromosomal disorders II. Br Med J 298:813-816, 1989 6. Swanson DW, Stipes AH: Psychiatric aspects of Klinefelter’s syndrome. Am J Psychiatry 126:814-822. 1969 7. Jablensky A, Janota I, Shepherd M: Neuropsychiatric illness and neuropathological findings in a case of Klinefelter’s syndrome. Psycho1 Med 1:18-39, 1970 8. Hindler CG, Norris DL: A case of anorexia nervosa with Klinefelter’s syndrome. Br J Psychiatry 149:659-660, 1986 9. Hoaken CG, Clarke M. Breslin M: Psychopathology in Klinefelter’s syndrome. Psychosom Med 26:207-223. 1964 10. Hunter H: A controlled study of the Psychopathology and physical measurements of Klinefelter’s syndrome. Br J Psychiatry 115:443-448,1969 11. American Psychiatric Association: Diagnostic and Statistical Manual of Mental Disorders (ed 3. revised). Washington DC, APA, 1987
