counselling of a couple faced with a prenatal diagnosis of klinefelter syndrome

REVIEW ARTICLE

Counselling of a couple faced with a prenatal diagnosis of KlinefeltersyndromeCéline M Girardin ([email protected])1, Guy Van Vliet2

1.Pediatric Endocrinology Unit, Pediatric Department, Geneva University Hospital, Geneva, Switzerland2.Endocrinology Service and Research Center, CHU Sainte-Justine and Department of Pediatrics, University of Montreal, Canada

Keywords47,XXY karyotype, Klinefelter syndrome, Prenatalcounselling

CorrespondenceCeline Girardin, M.D, Pediatric Department,Geneva University Hospital, Rue Willy-Donze 6,1211 Geneve 14, Switzerland.Tel: +41 22 372 45 90 |Fax: +41 22 372 45 88 |Email: [email protected]

Received31 August 2010; revised 10 December 2010;accepted 6 January 2011.

DOI:10.1111/j.1651-2227.2011.02156.x

ABSTRACTWhen a prenatal diagnosis of Klinefelter syndrome (KS) is made, a couple is faced with an

unfamiliar and unexpected diagnosis. The aim of this article is to give clues to prenatal coun-

selling in this situation. The information provided to couples facing a prenatal diagnosis of

KS should ideally be based on longitudinal studies of unselected individuals, including those

diagnosed prenatally. Indeed, there are several reasons to think that the phenotype of indi-

viduals diagnosed prenatally is globally less severe than in those diagnosed postnatally.

Based on these studies, the evidence to be explained to couples to help them make an

informed decision about the pregnancy is the following: except for rather tall height, gener-

ally normal appearance throughout life; increased risk of learning disabilities; spontaneous

puberty, reduced testicular size, usual need for testosterone supplementation from adoles-

cence onward; increased risk of gynecomastia; sexual orientation similar to the general

male population; infertility, but with the possibility of having biological offspring with

assisted reproductive techniques.

In this article, we review the evidence about the phenotype of KS according to the cir-

cumstances of diagnosis and its use in counselling couples faced with a prenatal diagnosis

of this common condition.Conclusion: Cohort studies including individuals with KS diagnosed prenatally are

still lacking.

INTRODUCTIONWhen a prenatal diagnosis of Klinefelter syndrome (KS) ismade, a couple is faced with an unfamiliar and unexpecteddiagnosis. Indeed, most women undergo amniocentesis torule out Down syndrome. The possibility of discovering asex chromosome aneuploidy, which occurs in almost 0.5%of amniocenteses (1), is not always discussed before the pro-cedure. The counselling provided to these couples should

aim to help them understand the condition and make aninformed decision about the pregnancy.

In this article, we review the evidence about the pheno-type of KS according to the circumstances of diagnosis, andits use in counselling couples faced with a prenatal diagno-sis of this common condition. We focus on counselling ofthe couple, but the information reviewed will be helpful toany individual giving or receiving counselling for a prenataldiagnosis of KS during pregnancy. The data discussed inthis article were presented at The International Workshopon KS held in Copenhagen, Denmark on 6th–8th May2010. The thoughtful remarks that followed the

Abbreviations

KS, Klinefelter syndrome; CVS, chorionic villus sampling.

Acta Pædiatrica ISSN 0803–5253

ª2011 The Author(s)/Acta Pædiatrica ª2011 Foundation Acta Pædiatrica 2011 100, pp. 917–922 917

presentation are transcribed in the appendix section at theend of the article.

BACKGROUNDPrenatal counsellingGenetic counselling is a communicative and educative pro-cess dealing with a genetic disorder in a family. The infor-mation provided by the counsellor should be unbiased andshould include explanations about the diagnosis, the proba-ble course, the available management, the process of hered-ity and the risk of recurrence. The principle of non-directiveness has to be respected so that a couple can makean informed decision that is appropriate for them about thepregnancy. The counsellor should also offer psychosocialsupport.

Prenatal 47,XXY karyotype, rate of pregnancy termina-tion and influencing factorsIn 1997, prenatally diagnosed cases of KS represented about10% of all cases (2).

A prenatal 47,XXY karyotype is almost always a surprisefor a couple. Indeed, it is unexpected as the test was mostoften carried out to rule out Down syndrome. Dependingon the practices of the medical centre where the proceduretakes place, a couple may not even have been told about thepossibility of discovering a sex chromosome aneuploidy.The 47,XXY karyotype is also not expected by the medicalstaff because of the absence of predictive prenatal signs(such as abnormalities on ultrasound).

When a prenatal diagnosis of KS has been made, thepregnancy termination rate varies widely, from 17% to 88%(Table 1) (3–14). This difference can partly be explained bycase selection, such as inclusion or exclusion of foetuseswith unrelated anomalies on ultrasound or with a mosaickaryotype. Socio-cultural factors also probably explain partof these differences, although neighbouring countries suchas Germany, France, and Switzerland report very differentpregnancy termination rates.

Several authors have tried to identify factors influencingthe pregnancy termination rate when a prenatal karyotypereveals sex chromosome aneuploidy. The presence of amosaic karyotype was shown to be associated with adecreased rate of pregnancy termination (14). Several stud-ies indicate that the rate of pregnancy termination is lowerif the counselling is given by a geneticist than by an obstetri-cian or an unspecified health professional (6,7,9). In recentyears, a higher number of couples have chosen to continuethe pregnancy in one study (14) but not in others (6,11).Likewise, data on maternal age and use of chorionic villussampling (CVS) vs amniocentesis are contradictory: oldermothers being less likely to terminate their pregnancy insome studies (9,11) but not in others (6,14) and CVS diag-nosis being more likely to lead to termination in one study(11) but not in another (14). Hispanic and Filipino ethnicityhas been associated with a trend to lower termination rate(11). Pregnancy history, marital status, education, and pro-fession have not been shown to influence the decision(6,9,14).

Unbiased information about the phenotypeThe first descriptions of KS were based on case reports andon karyotype screening programs carried out in male popu-lations of mental and penal institutions (15,16). As a result,a series of stereotypes evolved in which 47,XXY men weredescribed as mentally retarded and less masculine. Suchinformation is completely biased and should not be takeninto account when explaining the phenotype of men withKS. However, it is important to make a couple aware thatsuch information is still unfortunately available on the In-ternet for example.

The next generation of research was based on longitudi-nal studies of individuals diagnosed through neonatalscreening programs (17,18). The unbiased knowledge of themain phenotypic characteristics of individuals with Kline-felter arose from these studies. They confirmed the physicalcharacteristics such as an average height taller than the gen-eral male population, small testes, and infertility. Moreover,they revealed that men with KS have an IQ in the normalrange even if it is on average 10–15 points lower that the IQof their siblings. These studies indicated that speech delay isfrequent and often requires speech therapy and that boyswith KS are at increased risk of reading difficulties and needof educational support. Finally, individuals with KS mayhave an increased risk of social difficulties.

As these studies are based on individuals screened sys-tematically and followed prospectively, the description isunbiased and can thus be used for prenatal counselling.Indeed, those diagnosed postnatally on the basis of symp-toms do not include those who remain undiagnosedthroughout life and may have a less severe phenotype(2,10). In contrast, the neonatally screened group representsthe whole spectrum of the phenotype. Moreover, knowledgeof the diagnosis from birth can lead to implementing sup-portive measures early to mitigate any speech and learningdifficulties. These measures are similar to those which couldbe implemented for those children diagnosed prenatally.

Tables 1 Rates of pregnancy termination following a prenatal diagnosis of Klinefeltersyndrome

CountryNumber ofpregnancies

Terminationrate (%) Period of study References

Germany 23 17 1989–1998 (3)

Uruguay 22 23 1982–2003 (4)

France 12 42 1990–1998 (5)

5 European countries 111 44 1986–1997 (6)

USA 75 45 Not specified (7)

Hawaii 24 46 1986–1999 (8)

Finland + UK 15 66 1979–1984 (9)

Denmark 163 70 1970–2000 (10)

USA (California) 40 70 1983–2003 (11)

Switzerland 23 74 1980–2001 (12)

Israel 20 85 1989–1998 (13)

Canada (BC) 24 88 1971–1997 (14)

47,XXY karyotype and prenatal counselling Girardin and Van Vliet

918 ª2011 The Author(s)/Acta Pædiatrica ª2011 Foundation Acta Pædiatrica 2011 100, pp. 917–922

However, certain authors hypothesize that individualswho are diagnosed prenatally may have a less severe pheno-type than the individuals diagnosed through systematic neo-natal screening programs (19,20). They argue that theparental population differs between the groups, as the par-ents of the prenatally diagnosed children are generally olderand more educated. Moreover, they made a conscious deci-sion to continue the pregnancy and are probably moreinvolved and supportive of their child.

An assessment of the literature comparing the phenotypeof individuals according to the circumstances of diagnosisfound no differences concerning anthropometric andpubertal parameters such as weight, height, body massindex, upper vs lower segment ratio, arm span minus height(20), penile length and testicular volume (21). The absenceof differences suggests that these characteristics of the syn-drome are rather constant.

Two studies have suggested better development and feweracademic difficulties in those with KS diagnosed prenatally.Linden and Bender (22) compared data obtained on prena-tally diagnosed individuals whose parents had contactedtheir group during pregnancy to the individuals followedafter neonatal screening. The obvious selection bias in theprenatally diagnosed group as a result of their recruitment ishighlighted by a significantly higher proportion of parentsbelonging to the upper socio-economic classes. Thus, theprenatally diagnosed individuals had fewer problems withlanguage, academic skills, mental health issues, and person-ality. However, IQ was similar between the two groups.

In our study, the parents’ level of education and their agewas also different between the prenatal and postnatalgroups (20). Only the postnatally diagnosed group had ahigher incidence of repeating a school grade when com-pared to the general population. The percentage of individu-als needing speech therapy tended to be lower in theprenatal group. Even if it did not reach statistical signifi-cance, this result is interesting because the inverse tendencycould have been expected, because awareness of the diagno-sis may have led to early pedagogical interventions.

Finally, when looking at psychiatric data, Bruining et al.(23) showed a high prevalence of attention-deficit disordersand of autism spectrum disorders, with no clear differencesin prevalence of psychiatric problems between prenatallyand postnatally diagnosed individuals.

In summary, it seems that some features of the KS pheno-type are rather constant such as the anthropometric charac-teristics, the eventual occurrence of hypogonadism and theabsence of spontaneous fertility. However, other featuressuch as psychomotor, language and academic skills devel-opment as well as mental health issues could be amenableto modification by early interventions.

GENETIC COUNSELLING IN PRACTICEThe first step is to make sure a couple receives counsellingbefore the prenatal diagnostic procedure, which shouldinclude the possibility of discovering a sex chromosomeabnormality and a brief discussion of their prognosis.

When meeting a couple faced with a prenatal diagnosis ofKS, it is essential to give unbiased information and toremain neutral regarding the option of pregnancy termina-tion. The frequency of the condition and the fact that it is arandom event with little chance of reoccurrence must beexplained. As well, the variability in the phenotype of thecondition and the impossibility to give a precise individualprognosis must be discussed. A couple should also under-stand that an increased risk for difficulties does not mean acertainty and that learning difficulties are fairly common inthe general population even with a normal karyotype.Finally, the couple should be informed of the available pre-natal and postnatal interventions (24).

According to the literature cited earlier, the objectiveinformation to deliver to a couple about the expected phe-notype of the patient is summarized in Table 2. The poten-tial benefit of knowledge of the condition since birth has tobe discussed. Moreover, the positive influence of a goodparental socio-educational level on the child’s developmenthas to be raised, if applicable.

When available, it can be useful to give written materials.Showing selected photographs of individuals with KS canalso be reassuring and helpful. Talking to other parents isalso an option, even if families who volunteer to share theirexperience are probably the parents of children with KSwho are doing well and may therefore not be representative.The couple should be warned about the unreliability ofsome of the information available on the Internet andshould be provided the opportunity to discuss any concernsarising from this. The possibility to talk to other health pro-fessionals such as a paediatric endocrinologist should beoffered.

If the couple decides not to terminate the pregnancy, theyshould be counselled to expect a normal development oftheir child instead of searching for problems, but to reactpromptly if difficulties are encountered. The child with KSneeds a close paediatric follow-up of his psychomotordevelopment.

Table 2 Phenotypic characteristics to be discussed with a couple faced with a prena-tal diagnosis of Klinefelter syndromePhysical Appearance of the individual is normal throughout

life. Average height is taller than peers

IQ IQ is 10–15 points lower than siblings but

generally in normal range

Development Increased risk of developmental problems: motor,

language and learning. When present, same

therapy as other children. Supportive

environment may help

Puberty Spontaneous, decreased testicular size and usual

need for testosterone supplementation from

adolescence onward, slightly increased risk of

gynecomastia

Reproduction Infertile but with increasing options for assisted

reproduction

Sexual orientation Not different from the general male population

Adult adaptation Normal

Modified from Linden et al., Am J Med Genet, 2002.

Girardin and Van Vliet 47,XXY karyotype and prenatal counselling


The issue of disclosure has to be addressed. In our opin-ion, it is important to assist the couple in considering boththe risks and benefits of disclosing the diagnosis widely toothers. In the case of early and open disclosure, it is possiblethat relatives, caregivers and teachers could treat infantswith KS differently and also pre-empts appropriate disclo-sure to the individual. On the other hand, keeping the childcondition secret could create a feeling of secrecy or shamethat could be deleterious as well for the child development.Of course, postnatal guidance by knowledgeable profession-als should be offered.

CONCLUSIONSTo improve prenatal counselling, there is still a need forcohort studies of individuals with KS diagnosed prenatallyeven if these studies will be faced with inherent problems.Indeed, the decision of a couple to continue the pregnancyis a bias in itself. Moreover, the results of studies apply to agiven population, whereas counselling applies to an individ-ual person.

ACKNOWLEDGEMENTThe authors thank Ms Virginie Poisson, genetic counsellorat the CHU Ste-Justine, for her suggestions.

CONFLICT OF INTERESTCG and GVV have no conflict of interest to declare.

References

1. Crandall BF, Lebherz TB, Rubenstein L, Robertson RD, SampleWF, Sarti D, et al. Chromosome findings in 2,500 second tri-mester amniocenteses. Am J Med Genet 1980; 5: 345–56.

2. Abramsky L, Chapple J. 47,XXY (Klinefelter syndrome) and47,XYY: estimated rates of and indication for postnatal diagno-sis with implications for prenatal counselling. Prenat Diagn1997; 17: 363–8.

3. Meschede D, Louwen F, Nippert I, Holzgreve W, Miny P,Horst J. Low rates of pregnancy termination for prenatally diag-nosed Klinefelter syndrome and other sex chromosome polyso-mies. Am J Med Genet 1998; 80: 330–4.

4. Quadrelli R, Quadrelli A, Mechoso B, Laufer M, Jaumandreu C,Vaglio A. Parental decisions to abort or continue a pregnancyfollowing prenatal diagnosis of chromosomal abnormalities in asetting where termination of pregnancy is not legally available.Prenat Diagn 2007; 27: 228–32.

5. Perrotin F, Guichet A, Marret H, Potin J, Body G, Lansac J. Pre-natal outcome of sex chromosome anomalies diagnosed duringpregnancy: a retrospective study of 47 cases. J Gynecol ObstetBiol Reprod (Paris) 2000; 29: 668–76.

6. Marteau TM, Nippert I, Hall S, Limbert C, Reid M, Bobrow M,et al. Outcomes of pregnancies diagnosed with Klinefelter syn-drome: the possible influence of health professionals. PrenatDiagn 2002; 22: 562–6.

7. Robinson A, Bender BG, Linden MG. Decisions following theintrauterine diagnosis of sex chromosome aneuploidy. Am JMed Genet 1989; 34: 552–4.

8. Forrester MB, Merz RD. Pregnancy outcome and prenatal diag-nosis of sex chromosome abnormalities in Hawaii, 1986–1999.Am J Med Genet A 2003; 119A: 305–10.

9. Holmes-Siedle M, Ryynanen M, Lindenbaum RH. Parentaldecisions regarding termination of pregnancy following prena-tal detection of sex chromosome abnormality. Prenat Diagn1987; 7: 239–44.

10. Bojesen A, Juul S, Gravholt CH. Prenatal and postnatal preva-lence of Klinefelter syndrome: a national registry study. J ClinEndocrinol Metab 2003; 88: 622–6.

11. Shaffer BL, Caughey AB, Norton ME. Variation in the decisionto terminate pregnancy in the setting of fetal aneuploidy. Pre-nat Diagn 2006; 26: 667–71.

12. Hamamy HA, Dahoun S. Parental decisions following the pre-natal diagnosis of sex chromosome abnormalities. Eur J ObstetGynecol Reprod Biol 2004; 116: 58–62.

13. Sagi M, Meiner V, Reshef N, Dagan J, Zlotogora J. Prenataldiagnosis of sex chromosome aneuploidy: possible reasons forhigh rates of pregnancy termination. Prenat Diagn 2001; 21:461–5.

14. Christian SM, Koehn D, Pillay R, MacDougall A, Wilson RD.Parental decisions following prenatal diagnosis of sex chromo-some aneuploidy: a trend over time. Prenat Diagn 2000; 20:37–40.

15. Bourgeois M, Benezech M. Cytogenic survey of 600 mentallyretarded hospitalized patients. Encephale 1977; 3: 189–202.

16. Johnston AW, Speed RM, Evans HJ. A chromosome survey of apopulation of mentally retarded persons. Birth Defects OrigArtic Ser 1974; 10: 30–5.

17. Ratcliffe S. Long-term outcome in children of sex chromosomeabnormalities. Arch Dis Child 1999; 80: 192–5.

18. Robinson A, Bender BG, Linden MG, Salbenblatt JA. Sex chro-mosome aneuploidy: the Denver Prospective Study. BirthDefects Orig Artic Ser 1990; 26: 59–115.

19. Robinson A, Bender BG, Linden MG. Prognosis of prenatallydiagnosed children with sex chromosome aneuploidy. Am JMed Genet 1992; 44: 365–8.

20. Girardin CM, Lemyre E, Alos N, Deal C, Huot C, Van Vliet G.Comparison of adolescents with Klinefelter syndrome accord-ing to the circumstances of diagnosis: amniocentesis versusclinical signs. Horm Res 2009; 72: 98–105.

21. Zeger MP, Zinn AR, Lahlou N, Ramos P, Kowal K, Samango-Sprouse C, et al. Effect of ascertainment and genetic featureson the phenotype of Klinefelter syndrome. J Pediatr 2008; 152:716–22.

22. Linden MG, Bender BG. Fifty-one prenatally diagnosed chil-dren and adolescents with sex chromosome abnormalities. AmJ Med Genet 2002; 110: 11–8.

23. Bruining H, Swaab H, Kas M, van Engeland H. Psychiatriccharacteristics in a self-selected sample of boys with Klinefeltersyndrome. Pediatrics 2009; 123: e865–70.

24. Linden MG, Bender BG, Robinson A. Genetic counseling forsex chromosome abnormalities. Am J Med Genet 2002; 110: 3–10.

APPENDIX: DISCUSSION FOLLOWING CÉLINE GIRARDIN’SPRESENTATIONCounselling of parents expecting a child with Klinefeltersyndrome – how to adviseGary Butler (London, UK):You gave a very sensitive talk on how to approach geneticcounselling in this situation. In any checklist that balancesthe pros and cons of termination, it is important not to for-get the characters and personalities of boys and men with



Klinefelter syndrome (KS). I was privileged to work withShirley Ratcliffe, and I met all the KS boys in the Edinburghstudy, and some had amazing characters progressing tobecome salesmen, artists, swimmers and athletes. It isimportant to stress the positive feature of these individualsand that they can be normal. Parents who are given a prena-tal diagnosis of KS attend for genetic counselling and oftenask the doctor to give an opinion, but it is often difficult forthe doctor to come off the fence and advise one way oranother. Perhaps the doctor ought not to advise on thecourse of action because the decision should be taken bythe parents. Having seen many KS boys, I have never con-cluded retrospectively that any one individual patientshould not have existed.

Celine Girardin:I agree that it is important that doctors should be non-direc-tive, but this may be difficult at times. Some counsellorshave encountered more severe phenotypes and may feelnegatively towards the continuation of pregnancy, but wemust try to maintain a proper balance.

Luigi Gargantini (Treviglio, Italy):How can we assess whether the parents receive correctcounselling? The number of abortions is not the mostappropriate index.

Celine Girardin:The only factor that can be analysed meaningfully is the out-come and whether or not the parents feel as if they hadmade the correct decision.

Carole Samango-Sprouse (Davidsonville, USA):I have counselled and interacted with KS families for20 years and discussed whether they see the situation as aburden. Some families, especially upper middle class, cometo terms with a child with learning difficulties, and that altershow they perceive the child. If a prenatal diagnosis of KS ismade, it is important for the mother to have one more per-son other than the husband to talk with during pregnancyand discuss the diagnosis and consequences. This is often asister or best friend with whom they can share their anxiety.After birth, they should ask this person whether they thinkthe baby is normal or not as he develops. Psychiatrists andcounsellors advise the mothers to speak to a confidant everyday during pregnancy if they decide not to terminate.

Celine Girardin:I agree that a close friend is important. It is probably advis-able not to disclose the diagnosis on the first day of going toschool, and the teacher need not know unless a specificproblem arises and help is required.

Carole Samango-Sprouse:We advocate that families do not disclose widely that theirson has KS. It may be required when applying for specialneeds services, but stating that the boy has speech delaymay suffice rather than saying it is due to KS. The boys are

usually informed of their diagnosis at the age of 10–11 years, and they immediately ask who else knows: it isdisheartening for them to be told that the whole neighbour-hood knows. It is sometimes difficult to conceal the diagno-sis because parents like to chatter.

Ronald Swerdloff (Los Angeles, CA, USA):Two aspects about the counselling process. First, we havenot adequately educated the educators. Many paediatricendocrinologists in US surprisingly have seen very few KSchildren, and they have a poor understanding of the hetero-geneity of the disease. This is also true for many geneticcounsellors. Secondly, support groups become involved andthis is important. They can help prospective parents to makedecisions, but there is a considerable inherent bias. Themembers of the support group are often struggling with theirown difficulties because of their KS children, and often haveconsiderable, but unfounded, guilt feelings. They approachme and suggest that I have a very positive attitude to thechildren.

Martin Ritzen (Stockholm, Sweden):You showed a wide range of pregnancy termination rates indifferent countries, from 17% to 88%. Does this depend onwho is giving the counselling such as obstetrician, geneticist,or paediatric endocrinologist?

Celine Girardin:The nature of the counselling was not specified precisely inmany of the studies. In general, if geneticists had direct face-to-face discussions with the parents, the rate of terminationwas lower.

Martin Ritzen:That is perhaps surprising because clinical geneticists haveno personal experience with KS children.

Celine Girardin:The geneticist has a better understanding than the obstetri-cian. The role of paediatric endocrinologists as counsellorswas not examined. I predict that the better the counsellorknows the condition, the lower will be the pregnancy termi-nation rate.

Nicole Tartaglia (Denver, CO, USA):We provide a great deal of genetic counselling in collabo-ration with clinical geneticists in our clinic at the childdevelopment unit. Photographs of real children with KSare also very important to share when educating about thecondition. All too often, physicians learn about KS fromthe published black-and-white photographs in the geneticstextbooks showing the extremes of the phenotype, and thisis what they present to parents. This is often accompaniedby a complicated explanation of sex chromosomes whichmakes the parents concerned about sexuality. Counsellorsshould de-emphasize the abnormal features of KS andshow real-life photographs of children who are clothedand who look entirely normal. Parents should be

Girardin and Van Vliet 47,XXY karyotype and prenatal counselling


counselled about the risks for developmental delays intheir children but not in a way that results in parents con-stantly looking for everything that may be wrong. The boyshould be brought up as a typical boy, but I recommendthat all children with KS have careful developmentalscreening throughout childhood and a full developmentalassessment certainly before the age of 2–3 years so thatany delays can be addressed before the delay is less amena-ble to intervention.Disclosure of diagnosis must be considered. The KS con-dition is still stigmatized and misunderstood. This is per-petuated by not discussing it openly. If we as professionalsalways advise a ‘don’t tell’ policy, the diagnosis remains asecret but that can be dangerous because that sends themessage that the family and child should be hiding thediagnosis. We should be more open, but disclosure mustbe handled sensitively. I agree that there needs to be abalance, and we need to respect that the child with KSmay not want all their teachers, cousins, or neighbours toknow about their chromosomal difference when theygrow up to be adults. However, we also do not want themto feel like they have a shameful condition that they needto hide. We all agree that awareness, interventions, andresearch funding for KS are all insufficient. This will notchange unless people are more open to talking about thediagnosis.

Celine Girardin:When parents are first given the diagnosis, they are advisedto go home and think about it and should not immediatelytell everyone. I think that following the development of thechild should not be purely the responsibility of the parents.

The infant should be seen every 6 months for consultationwith a paediatrician who has a checklist to ensure that allrelevant factors are assessed.

Nicole Tartaglia: (Copenhagen, Denmark)They should have a very good developmental evaluation inthe first 18 months in greater depth than screening of typi-cal children.

Niels E Skakkebæk:The whole aspect of secrecy is tied up with the general lackof knowledge about the condition. We must consider howto train the professions including doctors and teachers atschool and kindergarten. There is much confusion andsometimes a doctor with insight has to go to the school tocalm things down. Is there any written material to help theteachers?

Celine Girardin:There is a sparsity of information leaflets. Many other child-hood conditions have the same problem of education.

Martin Ritzen:I once counselled a couple when the wife was carrying twofoetuses, one KS and one non-KS. We decided not to iden-tify which of the foetuses was KS so as not to bias theirupbringing. For the first 7 years, it was not possible to dis-tinguish between the two, and it only became obvious whenthey went to school. I use this anecdote to illustrate that KSboys are not monsters, but are normal boys with additionalfeatures.



counselling of a couple faced with a prenatal diagnosis of klinefelter syndrome

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