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Syndrome de Klinefelter et diagnostic prénatal

Antenatal diagnosis of Klinefelter syndrome

Andrologie volume 11, pages 149–154 (2001)Cite this article

Resume

L’utilisation de plus en plus fréquente du diagnostic prénatal permet de révéler des anomalies gonosomiques, en particulier le syndrome de Klinefelter, non associées à des anomalies échographiques fœtales. Les caractéristiques cliniques et biologiques du syndrome de Klinefelter sont bien connues. Il n’en est pas de même des fonctions intellectuelles dont l’évaluation est essentiellement, déterminée à partir d’études anciennes biaisées. Des études récentes démontrent que les facultés intellectuelles de ces sujets, bien que légèrement abaissées sont proches de la normale. Des études récentes montrent que le principal mode de recrutement des sujets 47,XXY, en post natal, est le bilan d’infertilité. La découverte d’un fœtus XXY génère toujours une anxiété majeure chez le couple. L’absence de malformation et de retard mental devrait permettre la poursuite de la grossesse. L’annonce de l’anomalie est déterminante. Le taux d’interruption est plus important quand c’est l’obstétricien qui fait cette annonce. Des études récentes et notre étude, bien que peu importante, confirment cette constatation. La tendance actuelle est de ne pas proposer d’interruption médicale pour un “Klinefelter” tout en sachant l’impossibilité de prédire quelle sera la gravité du syndrome.

Abstract

Because of the widespread use of amniocentesis and chorionic villus sampling, antenatal diagnosis of sex chromosome anomalies, particularly 47,XXY, has become increasingly common. The clinical and laboratory features of Klinefelter syndromes are well documented. On the contrary, the intelligence and achievement outcome of patients with Klinefelter syndrome are less well documented. Early reports suggested an increased frequency of psychological disturbances, subnormal intelligence, and sociopathy; however, because this information was obtained from inmates/patients of various institutions and clinics, it is considered to be biased. Most males born with the 47,XXY pattern will go through life without being karyotyped, while the commonest indication for karyotyping of a Klinefelter male is hypogonadism and/or infertility. Parents are very anxious when they are told that their fetus is 47,XXY. The couple should be allowed to continue the pregnancy in view of the absence of developmental delay and/or behavioural problems and congenital malformations. The abortion rate is higher when the fetal abnormality is announced by an obstetrician rather than a geneticist. The current tendency is to no longer propose termination of pregnancy, as most 47,XXY males only present with infertility.

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  1. Service de Génétique Médicale, Maternité Hôpital Pellegrin, 33076, Bordeaux

    R. Saura

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  1. R. Saura
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Communication au XVIIème Congrès de la SALF 7–9 décembre 2000, Bordeaux

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Saura, R. Syndrome de Klinefelter et diagnostic prénatal. Androl. 11, 149–154 (2001). https://doi.org/10.1007/BF03036639

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Basic and Clinical Andrology

ISSN: 2051-4190