698
CRYAN ET AL
WARWICIC,H. M. C. & SAuCovslus,
P. M. (1990) Unwanted
erections in obsessive-compulsive disorder. British Journal of Psychiatry, 157, 9l9—fll. WECHSLER, D. (1981) WechslerAdvit Intelligence Scale - Revised.
aerdand P@nd
Co
Wn@oti, 0. D. (1981) ross-generatIonal stability of gender differ
encesin sexuality.Personalityand IndividualDIfferences,2, 254—257. —¿
(1987)
An
sthological
approach
to
sexual
deviation.
In
Variant Sexuality: Research and Theory (ed. 0. D. Wilson). London: Croom Helm.
Elizabeth Cryan, MB,MRCPI,DCII,DObs,MRCPsych, SeniorRegLctrarin Psychiatry, St Vmcent@r Hospital, Elm Park, Dublin 4; Gerard Butcher,RMN,ENBCC 65o, Senior Behaviour Therapist, St Patrick's Hospital, James's Street, Dublin 8; Marcus 0. T.
Webb, MB, MPIIII,FRCPsyCII, FRCPI,Professor of Psychiatry, Trinity College, Dublin 2, Ireland Correspondence
A Transsexual Male with 47,XYY Karyotype NEELAM
TANEJA,
A. C. AMMINI,
ITU MOHAPATRA,
Trenssexuals ace usu@Iy found to hsv•a normal chromosome complement. The Utsratur to date docu melds four Uansasxuals with 47.XYV pattern. This paper reports a fertIle mel. with major eel Nns of
SHEKHAR
SAXENA
and KIRAN KUCHERIA
recalled frequently dressing up as a girl while playing at
the age of 6 to 8 years. His parents did not object to it, and he went to school in boys' clothing. He used to play mainly with girls and also took an interest in feminine
47,XYY and a gender Identity disorder. BritishJournalofPsychiat,y(1992),161, 698-699
activities like cooking and knitting. He is the eldest in a
Trustworthy information about the prevalence of gender identity disorders among chikiren, adolescents and adults is very scarce. Walinder (1968).from the
disorder.He marriedat the ageof 13yearsand startedliving with his wife at 16. His attitude towards marriage was
family of two brothers and four sisters, and there is no family history ofmei*al
Swedish central registry of sex reassignment
surgery
reported prevalence rates of 1 in 37000 for males and 1 in 103 000 for females. In 1988, Eklund eta! calculated a prevalence rate of male to female transsexuals as 1:18 000, and female to male as
retardation or any major psychiatric
passive acceptance. However, he was able to have normal
sexualintercoursewith his wifeand theyhad three children (a boy of 16 yearsand girls of 10 and 8 years). The patient reported
having a conviction
about himself
being‘¿actually a woman' from adolescence,but this feeling has intensifiedduringthe last ten years. He stoppedhaving sexualintercoursewith hiswifeat the ageof 27and started
1:54000 in the Netherlands. They suggested that the
wearinga brassiereunder his shirt. Hecomplained of having
increased prevalence is apparently due to a lower threshold for applying for medical treatment rather than a true increase in prevalence. Retrospective data
cyclicalpain in the abdomen and blood spotting from his perineumeverymonth, whichon investigationwas found
on homosexual men indicate a high frequency of cross-gender identification and female role behaviour (Kaplan & Saddock,
1988).
Cases of gender identity disorder are occasionally analysed for chromosome pattern. Wagner (1974) claims the first report of the presence of XYY constitution
in a transsexual.
Buhrich et a! (1978)
reported 47,XYY karyotype in two of 62 transsexuals analysed. Recently, Snaithetal(1991)reportedacase of a male to female transsexual with an XYY chromosome pattern. The prevalence rate of XYY karyotypes in consecutive male births is about 1 per
1000 (Hamerton, 1971). This paper reports a case (chance finding) of a transsexual with a chromosome pattern of 47,XYY and occasional presence of 48,XXYY and 46,XY metaphases also. Case report
to be caused by skin abrasions. The patient succeeded in
getting oestrogen therapy for a short time. On inquiry, he reported sexual arousal in the presence ofmales. He alsorequestsyoungchildrento suckhisbreasts to strengthen his femininefeeling, althOUghthis does not arouse him sexually. He has had sexual contacts with a male, but thesewerelisnitedto non-genitalstimulationand no ejaculationwas reportedduringthesecontacts. On physical eMnlination
he was 180cm in height and
70kg in weight. Bilateral mild breast enlargement was observed on recent examination (perhaps due to oestrogen treatment). Secondary hair growth and external genitalia were normal for males. He appeared to be of average
intelligenceand had no persistent aggressive,violent or criminal tendencies. He was working as a security guard
and his work record had apparently been satisfactory. A clinical diagnosis of gender identity disorder was made. Ultrasound examinationshowed no uterus, ovaries, or any mullerian duct remnants. The semen analysis showed
oligospermia(>0.2 million/mI).Testicularbiopsyrevealed hyalinisationof seminiferoustubules,thickeningof basement membranesand fibrosis. Spermatogenesiswas scant, with
N, a 37-yearold male patient, came to the psychiatryclinic
focal Leydig cell hyperplasia. These findings are suggestive
requestinga sen-changeoperation.On interview,the patient
of severetesticularatrophy.
699
A TRANSSEXUAL MALE WITH 47,XYY KARYOTYPE Cytogesetic Invedigatlos BucoalsmearwasX-chromatinnegativeandY-bodypositive.
Most ofthe cells showed two separateY-bodies in a cell. A total of@0celIs were screened for Y-body. Peripheral blood culture was set up using routine techniques and the chromo some pattern commonly observed was 47,XYY. Of the 75 inetaphascscounted,2showed46,XYwhile7Osbowed47,XYY pattern and 3 showed 48,XXYY pattern. The preparations were subjected to 0 and Q chromososnebanding: Q banding very clearly revealed presence of two Y chromosomes
with a brightly fluorescent distal portion of long arms; 0-banding
of chromosomes
confirmed
the same findings.
In addition to classical form, some features such as very tall stature, stasis dermatitis and saphenous vein varicosities have been noticed in some of these
patients. The present case also complained of cracking of skin and bleeding every month. Cross gender identity combined with a strong wish to get rid of the genitalia, preference for face to face sexual encounters, oestreogen therapy resulting in breast development and the strong determination to be a woman favoursthediagnosisofatranssexual. Thetrue aedologicalsignificanceoftranssexualshavingchromo
some abnormality cannot be suggested at present, since only five such cases have been reported so far.
Dlacuuion
Refersncss
Jacobs et a! (1965, 1968) studied the chromosomes of 315 male patients in a Scottish maximum-security
hospital and found nine 47,XYY males. Sub
B@amnrr,D. J., Hu*i.ey, W. P., Bw@r,,C. R., et al (1968) Chromosomesof malepatients in a securityhospital. Nature, 21@,351—334.
sequently, the fmdings of five such surveys showed that the frequency of a 47,XYY chromosome
Bunaicu, N., B@aa,R. & L@ai-Po-T@@@io, P. R. L. C. (1978)Two
complement
C0UaT BROWN,W. M. (1968) Males with en XYY sex chromosome
among
tall mentally
subnormal
crminalc
or psychopathic males is extremely high. Slater & Cowie (1971) did not observe any specific link between sex chromosomal abnormalities and sexual behaviour. Contrary to this, four cases of transsexuals
with an XYY chromosome
pattern have
previously been reported. This case is the fifth reported transsexual with a 47,XYY pattern. The behavioural difficulties of these males do, of course, pose serious social and forensic problems. Nine XYY males identified in a maximum-security prison
in Scotland
have
all suffered
from
a severe
personality disorder of unknown cause; two had nor
mal and seven had subnormal intelligence. Initially, aggressiveness and antisocial tendency was linked to the extra Y chromosome. No behavioural disturbances
or aggressiveness were observed in our patient. The physical characteristics for 31 men with the pattern 47,XYY ascertained in various surveys show that while the majority are of subnormal intelligence, a proportion are of average intelligence. The vast majority have a normal male habitus with normal sexual development (Hamerton, 1971).Hypogonadisin has been reported in some cases (Court Brown, 1968). The presentcase was of averageheight (not tall), with normal male sexual development and fertility. Daly (1969) reported a significantly higher incidence of homosexual behaviour in XYY males than a control group from the same population. Bartlett eta! (1968) found two homosexual XYY males in his study. Zeuthen (1975) reported insecure masculine identification in all subjects with an XYY karyo type. The case presented in this report is also involved in homosexual activities and has a gender identity problem.
tranuexuals with 47 XYY karyotype. B,'itirh Journal Ps:vcMatiy, 133, 77—81.
of
complement. Journal ofMedlcoJ Genetics, 5, 341-350. D@v, R. F. (1969) Mental illness and patterns of behaviour in 10 xYY males. Journal of Nervous and Mental DLmese, 149,
318—327. FJcLuND,P. L. E., Gooui@i, L. 3. G. & Bam,ina, P. D. (1988) Prevalence of transsexualism in the Netherlands. BrItLi*Journal
of PsychIatry,152,638-640. HAMarroPi, J. L. (1971) Abnormal sex chromosome complements in the male. In Human Cytogenetics, vol. II (ed. J. L.
Hamerton),pp. 1-64. NewYork & London: AcademicPress. JAcoBs,P. A., Bau,now, M., Maviu.n, M. M., at a! (1965) Aggressive behaviour, mental subnormality and the XYY male. Nature, 205, 1351—1352.
—¿, Paica, W. H., COURT BRowN,W. M., et a! (1968) Chromosome studies on men in a maximum security hospital. Annals of Human GenetIcs, 31, 339—358. Kiipt..ui, H. I. & S@noaçB. 3. (1988) Conqwvhe,ulve Text Book of Psychiatry. Baltimore, Maryland: Williams & Wilkins. SL.ATsa, E. & Cowin, V. (1971) Sex chromosome
anomalies.
In
Geneticsof MentalDisorders,pp. 317-319. London:Oxford University Press. Sr@um, R. P., PENHALE, S. & Hoamsw, P. (1991) Male to female transsexualism with XYY Karyotype. Lancet, 337, 557—558. WAGER, B. (1974) Fan tranmexuller mit XYY syndrom. Nerwnwzt,
45, 548—551. WAUNDER,3. (1968) Transsexualism:
definition, prevalence and sex
distribution. Acta Psychiatrica Scandlnavku (suppl. 203), 251.
Zaumer@,E., HAJenN,M., CmismIenI4,A. L., it a! (1975)A psychiatric psychological study of XYY males found In a general population. Ada Psychiatrica Scandinavlca, 51, 3-18.
Neelam Taneja, PhD, Department of Anatomy; A. C. Ammini, t@D,Department of Endocrino!ogy; Ito Mohapatra, PhD, Department of Anatomy; Shekhar Saxena, MD, Department of Psychiatiy;
*Kiran Kucheria, PhD,Professor of Genetics, Depart ment of Anatomy, All India Institute of Medical Sciences, New Delhi 110 029, India Crrespondence
A transsexual male with 47,XYY karyotype. N Taneja, A C Ammini, I Mohapatra, S Saxena and K Kucheria BJP 1992, 161:698-699. Access the most recent version at DOI: 10.1192/bjp.161.5.698
References Reprints/ permissions You can respond to this article at Downloaded from
This article cites 0 articles, 0 of which you can access for free at: http://bjp.rcpsych.org/content/161/5/698#BIBL To obtain reprints or permission to reproduce material from this paper, please write to [email protected] /letters/submit/bjprcpsych;161/5/698 http://bjp.rcpsych.org/ on February 9, 2017 Published by The Royal College of Psychiatrists
To subscribe to The British Journal of Psychiatry go to: http://bjp.rcpsych.org/site/subscriptions/
CRYAN ET AL
WARWICIC,H. M. C. & SAuCovslus,
P. M. (1990) Unwanted
erections in obsessive-compulsive disorder. British Journal of Psychiatry, 157, 9l9—fll. WECHSLER, D. (1981) WechslerAdvit Intelligence Scale - Revised.
aerdand P@nd
Co
Wn@oti, 0. D. (1981) ross-generatIonal stability of gender differ
encesin sexuality.Personalityand IndividualDIfferences,2, 254—257. —¿
(1987)
An
sthological
approach
to
sexual
deviation.
In
Variant Sexuality: Research and Theory (ed. 0. D. Wilson). London: Croom Helm.
Elizabeth Cryan, MB,MRCPI,DCII,DObs,MRCPsych, SeniorRegLctrarin Psychiatry, St Vmcent@r Hospital, Elm Park, Dublin 4; Gerard Butcher,RMN,ENBCC 65o, Senior Behaviour Therapist, St Patrick's Hospital, James's Street, Dublin 8; Marcus 0. T.
Webb, MB, MPIIII,FRCPsyCII, FRCPI,Professor of Psychiatry, Trinity College, Dublin 2, Ireland Correspondence
A Transsexual Male with 47,XYY Karyotype NEELAM
TANEJA,
A. C. AMMINI,
ITU MOHAPATRA,
Trenssexuals ace usu@Iy found to hsv•a normal chromosome complement. The Utsratur to date docu melds four Uansasxuals with 47.XYV pattern. This paper reports a fertIle mel. with major eel Nns of
SHEKHAR
SAXENA
and KIRAN KUCHERIA
recalled frequently dressing up as a girl while playing at
the age of 6 to 8 years. His parents did not object to it, and he went to school in boys' clothing. He used to play mainly with girls and also took an interest in feminine
47,XYY and a gender Identity disorder. BritishJournalofPsychiat,y(1992),161, 698-699
activities like cooking and knitting. He is the eldest in a
Trustworthy information about the prevalence of gender identity disorders among chikiren, adolescents and adults is very scarce. Walinder (1968).from the
disorder.He marriedat the ageof 13yearsand startedliving with his wife at 16. His attitude towards marriage was
family of two brothers and four sisters, and there is no family history ofmei*al
Swedish central registry of sex reassignment
surgery
reported prevalence rates of 1 in 37000 for males and 1 in 103 000 for females. In 1988, Eklund eta! calculated a prevalence rate of male to female transsexuals as 1:18 000, and female to male as
retardation or any major psychiatric
passive acceptance. However, he was able to have normal
sexualintercoursewith his wifeand theyhad three children (a boy of 16 yearsand girls of 10 and 8 years). The patient reported
having a conviction
about himself
being‘¿actually a woman' from adolescence,but this feeling has intensifiedduringthe last ten years. He stoppedhaving sexualintercoursewith hiswifeat the ageof 27and started
1:54000 in the Netherlands. They suggested that the
wearinga brassiereunder his shirt. Hecomplained of having
increased prevalence is apparently due to a lower threshold for applying for medical treatment rather than a true increase in prevalence. Retrospective data
cyclicalpain in the abdomen and blood spotting from his perineumeverymonth, whichon investigationwas found
on homosexual men indicate a high frequency of cross-gender identification and female role behaviour (Kaplan & Saddock,
1988).
Cases of gender identity disorder are occasionally analysed for chromosome pattern. Wagner (1974) claims the first report of the presence of XYY constitution
in a transsexual.
Buhrich et a! (1978)
reported 47,XYY karyotype in two of 62 transsexuals analysed. Recently, Snaithetal(1991)reportedacase of a male to female transsexual with an XYY chromosome pattern. The prevalence rate of XYY karyotypes in consecutive male births is about 1 per
1000 (Hamerton, 1971). This paper reports a case (chance finding) of a transsexual with a chromosome pattern of 47,XYY and occasional presence of 48,XXYY and 46,XY metaphases also. Case report
to be caused by skin abrasions. The patient succeeded in
getting oestrogen therapy for a short time. On inquiry, he reported sexual arousal in the presence ofmales. He alsorequestsyoungchildrento suckhisbreasts to strengthen his femininefeeling, althOUghthis does not arouse him sexually. He has had sexual contacts with a male, but thesewerelisnitedto non-genitalstimulationand no ejaculationwas reportedduringthesecontacts. On physical eMnlination
he was 180cm in height and
70kg in weight. Bilateral mild breast enlargement was observed on recent examination (perhaps due to oestrogen treatment). Secondary hair growth and external genitalia were normal for males. He appeared to be of average
intelligenceand had no persistent aggressive,violent or criminal tendencies. He was working as a security guard
and his work record had apparently been satisfactory. A clinical diagnosis of gender identity disorder was made. Ultrasound examinationshowed no uterus, ovaries, or any mullerian duct remnants. The semen analysis showed
oligospermia(>0.2 million/mI).Testicularbiopsyrevealed hyalinisationof seminiferoustubules,thickeningof basement membranesand fibrosis. Spermatogenesiswas scant, with
N, a 37-yearold male patient, came to the psychiatryclinic
focal Leydig cell hyperplasia. These findings are suggestive
requestinga sen-changeoperation.On interview,the patient
of severetesticularatrophy.
699
A TRANSSEXUAL MALE WITH 47,XYY KARYOTYPE Cytogesetic Invedigatlos BucoalsmearwasX-chromatinnegativeandY-bodypositive.
Most ofthe cells showed two separateY-bodies in a cell. A total of@0celIs were screened for Y-body. Peripheral blood culture was set up using routine techniques and the chromo some pattern commonly observed was 47,XYY. Of the 75 inetaphascscounted,2showed46,XYwhile7Osbowed47,XYY pattern and 3 showed 48,XXYY pattern. The preparations were subjected to 0 and Q chromososnebanding: Q banding very clearly revealed presence of two Y chromosomes
with a brightly fluorescent distal portion of long arms; 0-banding
of chromosomes
confirmed
the same findings.
In addition to classical form, some features such as very tall stature, stasis dermatitis and saphenous vein varicosities have been noticed in some of these
patients. The present case also complained of cracking of skin and bleeding every month. Cross gender identity combined with a strong wish to get rid of the genitalia, preference for face to face sexual encounters, oestreogen therapy resulting in breast development and the strong determination to be a woman favoursthediagnosisofatranssexual. Thetrue aedologicalsignificanceoftranssexualshavingchromo
some abnormality cannot be suggested at present, since only five such cases have been reported so far.
Dlacuuion
Refersncss
Jacobs et a! (1965, 1968) studied the chromosomes of 315 male patients in a Scottish maximum-security
hospital and found nine 47,XYY males. Sub
B@amnrr,D. J., Hu*i.ey, W. P., Bw@r,,C. R., et al (1968) Chromosomesof malepatients in a securityhospital. Nature, 21@,351—334.
sequently, the fmdings of five such surveys showed that the frequency of a 47,XYY chromosome
Bunaicu, N., B@aa,R. & L@ai-Po-T@@@io, P. R. L. C. (1978)Two
complement
C0UaT BROWN,W. M. (1968) Males with en XYY sex chromosome
among
tall mentally
subnormal
crminalc
or psychopathic males is extremely high. Slater & Cowie (1971) did not observe any specific link between sex chromosomal abnormalities and sexual behaviour. Contrary to this, four cases of transsexuals
with an XYY chromosome
pattern have
previously been reported. This case is the fifth reported transsexual with a 47,XYY pattern. The behavioural difficulties of these males do, of course, pose serious social and forensic problems. Nine XYY males identified in a maximum-security prison
in Scotland
have
all suffered
from
a severe
personality disorder of unknown cause; two had nor
mal and seven had subnormal intelligence. Initially, aggressiveness and antisocial tendency was linked to the extra Y chromosome. No behavioural disturbances
or aggressiveness were observed in our patient. The physical characteristics for 31 men with the pattern 47,XYY ascertained in various surveys show that while the majority are of subnormal intelligence, a proportion are of average intelligence. The vast majority have a normal male habitus with normal sexual development (Hamerton, 1971).Hypogonadisin has been reported in some cases (Court Brown, 1968). The presentcase was of averageheight (not tall), with normal male sexual development and fertility. Daly (1969) reported a significantly higher incidence of homosexual behaviour in XYY males than a control group from the same population. Bartlett eta! (1968) found two homosexual XYY males in his study. Zeuthen (1975) reported insecure masculine identification in all subjects with an XYY karyo type. The case presented in this report is also involved in homosexual activities and has a gender identity problem.
tranuexuals with 47 XYY karyotype. B,'itirh Journal Ps:vcMatiy, 133, 77—81.
of
complement. Journal ofMedlcoJ Genetics, 5, 341-350. D@v, R. F. (1969) Mental illness and patterns of behaviour in 10 xYY males. Journal of Nervous and Mental DLmese, 149,
318—327. FJcLuND,P. L. E., Gooui@i, L. 3. G. & Bam,ina, P. D. (1988) Prevalence of transsexualism in the Netherlands. BrItLi*Journal
of PsychIatry,152,638-640. HAMarroPi, J. L. (1971) Abnormal sex chromosome complements in the male. In Human Cytogenetics, vol. II (ed. J. L.
Hamerton),pp. 1-64. NewYork & London: AcademicPress. JAcoBs,P. A., Bau,now, M., Maviu.n, M. M., at a! (1965) Aggressive behaviour, mental subnormality and the XYY male. Nature, 205, 1351—1352.
—¿, Paica, W. H., COURT BRowN,W. M., et a! (1968) Chromosome studies on men in a maximum security hospital. Annals of Human GenetIcs, 31, 339—358. Kiipt..ui, H. I. & S@noaçB. 3. (1988) Conqwvhe,ulve Text Book of Psychiatry. Baltimore, Maryland: Williams & Wilkins. SL.ATsa, E. & Cowin, V. (1971) Sex chromosome
anomalies.
In
Geneticsof MentalDisorders,pp. 317-319. London:Oxford University Press. Sr@um, R. P., PENHALE, S. & Hoamsw, P. (1991) Male to female transsexualism with XYY Karyotype. Lancet, 337, 557—558. WAGER, B. (1974) Fan tranmexuller mit XYY syndrom. Nerwnwzt,
45, 548—551. WAUNDER,3. (1968) Transsexualism:
definition, prevalence and sex
distribution. Acta Psychiatrica Scandlnavku (suppl. 203), 251.
Zaumer@,E., HAJenN,M., CmismIenI4,A. L., it a! (1975)A psychiatric psychological study of XYY males found In a general population. Ada Psychiatrica Scandinavlca, 51, 3-18.
Neelam Taneja, PhD, Department of Anatomy; A. C. Ammini, t@D,Department of Endocrino!ogy; Ito Mohapatra, PhD, Department of Anatomy; Shekhar Saxena, MD, Department of Psychiatiy;
*Kiran Kucheria, PhD,Professor of Genetics, Depart ment of Anatomy, All India Institute of Medical Sciences, New Delhi 110 029, India Crrespondence
A transsexual male with 47,XYY karyotype. N Taneja, A C Ammini, I Mohapatra, S Saxena and K Kucheria BJP 1992, 161:698-699. Access the most recent version at DOI: 10.1192/bjp.161.5.698
References Reprints/ permissions You can respond to this article at Downloaded from
This article cites 0 articles, 0 of which you can access for free at: http://bjp.rcpsych.org/content/161/5/698#BIBL To obtain reprints or permission to reproduce material from this paper, please write to [email protected] /letters/submit/bjprcpsych;161/5/698 http://bjp.rcpsych.org/ on February 9, 2017 Published by The Royal College of Psychiatrists
To subscribe to The British Journal of Psychiatry go to: http://bjp.rcpsych.org/site/subscriptions/
