Battin J, Malpuech G, Nivelon J L, Garandeau P, Freycon F, Sultan C, Bost M, Simonin G, Bouquier J, Rochiccioli P
Clinique de Pédiatrie et Génétique Médicale, Hôpital d'Enfants, CHU Pellegrin, Bordeaux.
Ann Pediatr (Paris). 1993 Sep;40(7):432-7.
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.
一项回顾性多中心研究发现了58例克兰费尔特综合征患者，其中23例（39%）在青春期前被诊断出来。尽管克兰费尔特综合征与唐氏综合征一样常见，但它的诊断不足，通常直到成年才被发现。婴儿、儿童和青少年的提示性表现包括面部畸形、小阴茎以及言语发育迟缓，这些表现应促使进行核型检查。通过常规测量11至15岁男学生的睾丸大小，并对睾丸体积小于2毫升的男孩进行核型检查，可以实现对克兰费尔特综合征的早期识别。在青春期开始时启动早期心理和教育支持以及睾酮替代疗法，可能会改善社会和学业成果。
