Neuropsychiatric disorders found in association with Turner's syndrome (gonadal agenesis) are unusual. The case report describes a patient with Turner's syndrome who suffered an acute psychotic reaction. A brief review of the literature concerning this association is surveyed.S. Afr. Med. J., 47, 146 (1973

Hart, GAD

Miller, AG

Swanson, DA

English

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146 S.A. MEDICAL JOURNAL 27 January 1973A Psychotic Reaction in a Sex-ChromatinNegative Female *D. A. SWANSON, M.B. B.CH., D.P.M., G. A. D. HART, M.B. CH.B., D.P.M. AND A. G. MILLER, M.B. CH.B.,Department of Psychiatry, Tara, The H. Moross Centre and University of the Witwatersrand, JohannesburgSUMMARYNeuropsychiatric disorders found in association withTurner's syndrome (gonadal agenesis) are unusual. Thecase report describes a patient with Turner's syndromewho suffered an acute psychotic reaction.A brief review of the literature concerning this asso-ciation is surveyed.S. Afr. Med. J., 47, 146 (1973).A considerable variety of karyotypes with abnormalitiesinvolving the sex chromosomes have been described,either possessing varying numbers of both X and Ychromosomes, or showing evidence of more than onestem-line of cells-so-called mosaicism. I From amongthese anomalies, several have emerged with sufficient-degree of constancy and frequency of their clinicalfeatures for them to be regarded as specific syndromes.In anatomical males these include XXY (Klinefelter'ssyndrome) and XYY, while in anatomical femalesXO (Turner's syndrome) and XXX are found.Turner described a syndrome in women comprisingthe triad: infantilism (short stature and underdevelopedsecondary sexual characteristics), webbing of the neck,and deformity of the elbow (cubitus valgus):'· Theseindividuals were later shown to be chromatin-negative,and to have the XO sex chromosome pattern.' Thisparticular configuration is the most common patterndemonstrated, but variants do occur, usually as mosaicswith a stem-line of normal cells.'Turner's syndrome itself is a rare condition occurringin only 0,3 - 0,5% of a 'world-pool of new-born girls'.···The anomaly is common among spontaneous abortions,and girls with the XO configuration are more apt to diein childhood than other girls.' Consequently the conditionis still more rare among adult females.Since the original report by Turner, a great varietyof associated physical anomalies have been described,but there are only few scattered reports on neuropsy-chiatric disorders in association with the syndrome ofgonadal agenesis (Turner's syndrome), whether it occursin the pure form or as a mosaic pattern. Therefore, apsychotic reaction in an individual with the XO(;onfiguration seems worth reporting.It appears that many of the psychological charac-teristics observed in Turner's syndrome are secondary,"Date received: 22 August 1972.being reactions to oddness of appearance or physiologicalfunction. This is borne out by the psychiatric studycarried out by Sabbath et al.' on 7 adolescent girls withovarian agenesis. The degree of dwarfing of statureappeared to play a considerable part in their attitudesand behaviour patterns. Characteristic of the group wasthe vagueness and blandness of their personalities.Similar findings of passivity of personality, vaguenessand lack of involvement were made by Hampson et al.'They studied 19 women with Turner's syndrome froma psychological point of view. None of the women wasconsidered neurotic or psychotic. Their personalitymake-ups showed marked lack of aggressiveness, drive andinitiative.As regards the actual association of Turner's syndromeand psychosis, there are only a few scattered reports.Chromosomal investigations of already diagnosedschizophrenics have not shown a greater or lesserincidence of the association with Turner's syndrome.Kaplan and Cotton: in a chromosomal investigation of986 institutionalized schizophrenics, were able to findonly 4 who had an associated Turner's syndrome.Similar large studies did not show any associationwhatsoever. 10· 13Slater and ZilkhaI< described a case of Turner'ssyndrome showing an unusual form of myopathy, anda brief psychotic episode diagnosed as schizophrenia.Milcu et al." described another case in which Turner'ssyndrome was found in association with a psychosisdiagnosed as schizophrenia. Mellbin" studied a smallselect group of 4 women with Turner's syndrome whoshowed a common abnormal EEG pattern, but varyingpsychiatric symptomatology. Of these, 2 women showedpsychotic reactions, one of the chronic variety andthe other a single acute episode.CASE REPORTThe patient, aged 33 years on admission, is the youngestof 6 siblings. She is 1,49 m tall and weighs 69,7 kg.She looks old for her age with low-set protruding earsand a broad, short neck. Her wrists are broad andmis-shapen, and she displays a marked cubitus valgus.Her breasts are hypoplastic with retracted nipples inthe anterior axillary line; she has a small portiovaginalis, but no palpable uterus or ovaries. She hasnever menstruated.Chromosomal analysis showed that the patient hadthe karyotype 45 jXO (Fig. 1).--------6·11ICGrOl.DI --Fig. 1. Chromosomal analysis showing 4S{XO karyotype.IIIIIIIIIIIIIIIIIIIIIIIIII147-1-·-.,-----4 S(BG~,I------.-1.-. -----.16 18tEGfOUP)'------'REFERENCES1. Slater, E. and Cowie, V. (1971): The Genetics of Mental Disorders.London: Oxford University Press.2. Turner, H. H. (1938): Endocrinology, 13, 566.3. Nielsen, J. (1970): Acta psycbiat. scand., 46. 286.4. Wilkins, L.. Grumbacb. M. M. and Van Wyk, J. J. (1954): J. Clin.Endocr., 14. 1270.5. Forsman, H. (1970): Brit. J. Psychiat., 117, 353.6. Akesson, H. O. and Olanders. S. (1968): Lancet., 2, 515.7. Sabbath, J. C.. Morris, T. A., Mcnzer-Benaron, D. and Sturgis,S. H. (l96J): Psychosom. Med., 13, 224.8. Hampson. J. L., Hampson. J. A. and Money, J. (1955): Bull. JohnsHopk. Hosp., ')7, 207.9. Kaplan, A. R. and Cotton, J. E. (1968): J, Nerv. Ment. Dis.,147. 402.10. Anders, J. M., Jagiello, A., Polani, P. E., Gianelli, F., Hamerton,J. L. and Leiberman, D. M. (1968): Brit. J. Psychiat., 114, 1167.I!. Raphael, T. and Shaw, M. W. (1963): J. Amer. Med. Assoc., 183,1022.12. Tedeschi, L. G. ,and Freeman, H. (1962): Arch. Gen. Psychiat.,6. 109.13. Money, J. and Hirsch, S. R. (1963): Ibid .• 8. 242.14. Slater, E. and Zilkha, K. (1961): Proc. Roy. Soc. Med., 54, 674.15. Milcu, St M., Stanescu. V., lonescu, V. and Forea, I. a. quoted inMellbin. G. (1965): Brit. J. Psychiat., 112. 145.We should like to thank Professor L. A. Hurst, Professorof Psychiatry, University of the Witwatersrand, and Dr R.Sandig, Superintendent, Tara, The H. Moross Centre, forpermission to publish; and Dr E. Wilton for assistance withthe chromosomal studies.L--- 21 _22 !G Group) --..JS.-A. MEDIESE TYDSltlUFl-·l~ -I~J~-I-I-J-'~I-',.L... .~,_"::"" 1.3.15 tDGroupl-------''--------1 3~A(j,nup}------'l.-19·20IFG~O\.lOI-."."-_. -•..,-------..-.-- -------27 Januarie 1973Her birth was normal and followed an uneventfulpregnancy. She developed normally as a child, andmanaged well at school, passing Std VllI before leavingschool. Since that time she has worked consistently asa machine-operator for the same firm.Always a quiet, retiring person, the patient suddenlybecame withdrawn, despondent and emotionally labile3 months before her admission to hospital. Her attitudetowards her mother changed, and she would lock herselfin her room for long periods, refusing to see anyone.During this period she became acutely anxious andcomplained of auditory hallucinations. Impulsively shetied a cord around her neck in an attempt to strangleherself, and she was found unconscious with a suffusedface and the bum marks of the cord on her neck.She was admitted urgently to hospital where sheresponded well to 6 sessions of electroconvulsive therapyand a combination of perphenazine and amitriptyline.At follow-up 12 months later, she was apsychotic andcoping well.

A Psychotic Reaction in a Sex-Chromatin Negative Female

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A Psychotic Reaction in a Sex-Chromatin Negative Female

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