[Klinefelter syndrome in 1993. Results of a multicenter study on 58 cases and review of the literature].

Abstract

A retrospective multicenter study found 58 cases of Klinefelter syndrome of which 23 (39%) were diagnosed before puberty. Although as common as Down syndrome, Klinefelter syndrome is underdiagnosed and often recognized only in adulthood. Suggestive manifestations in infants, children, and teenagers include facial dysmorphism, micropenis, and delayed speech and should lead to examination of the karyotype. Early recognition of Klinefelter syndrome could be achieved by routinely measuring the size of the testes in school-boys aged 11 to 15 years and performing a karyotype in boys with a volume of less than 2 ml. Early psychological and educational support and testosterone replacement therapy initiated at onset of puberty may lead to improved social and academic outcomes.

• Authors: J Battin, G Malpuech, J L Nivelon, P Garandeau, F Freycon, C Sultan, M Bost, G Simonin, J Bouquier, P Rochiccioli
• Journal: Annales de pediatrie (Ann Pediatr (Paris)) Vol. 40 Issue 7 Pg. 432-7 (Sep 1993) ISSN: 0066-2097 [Print] France
• Vernacular Title: Le syndrome de Klinefelter en 1993. Résultats d'une enquête multicentrique sur cinquante-huit cas et revue de la littérature.
• PMID: 8239394 (Publication Type: English Abstract, Journal Article, Multicenter Study, Review)

Topics

• Adolescent
• Anthropometry
• Biopsy
• Child
• Counseling
• Educational Status
• France (epidemiology)
• Humans
• Infant
• Karyotyping
• Klinefelter Syndrome (diagnosis, epidemiology, psychology, therapy)
• Male
• Patient Education as Topic
• Puberty
• Retrospective Studies
• Social Adjustment
• Social Support
• Surveys and Questionnaires
• Testis (pathology)