Klinefelter syndrome: going beyond the diagnosis.
Klinefelter syndrome: going beyond the diagnosis.
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DOI：
10.1136/archdischild-2020-320831
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发表时间：
2023-03
影响因子：
5.2
通讯作者：
Mitchell R
中科院分区：
文献类型：
--
作者：
Butler G;Srirangalingam U;Faithfull J;Sangster P;Senniappan S;Mitchell R
虽然Klinefelter综合征（KS）是常见的，但很少在儿童期被发现，有时被确定为语言或发育迟缓或产前诊断。唯一正常的特征是睾丸功能障碍。出生后促性腺激素激增（青春期缩短）可能较低，但睾酮治疗需要前瞻性研究。青春期的开始是在正常的年龄和生化性腺功能减退症通常不会发生，直到青春期后期。对于临床性腺功能减退症，可以考虑在那时或更早时补充睾酮。出生时的身高是正常的，但在儿童早期和中期，生长加速更快，成人身高大于父母身高的中间值。极端高大的身材是不寻常的。与发育正常的男孩相比，青春期男性乳房发育的发病率（35.6%）并没有增加。它可以通过补充睾酮来减少或解决，从而可能防止手术的需要。大约三分之二的人需要言语和语言治疗或发展支持，早期治疗很重要。提供心理支持可能有助于改善这些经历，并提供机会制定识别，处理和表达感情和思想的策略。KS男孩的社会认知障碍的风险增加，社会情感线索的感知不准确。在定期审查青春期和青少年性功能的同时，需要引入可能的生育问题的概念。虽然现在通过睾丸精子提取等技术获得精子的成功率更高，但在青春期后期比早期更成功。生殖细胞的体外成熟仍处于实验阶段。
Although Klinefelter syndrome (KS) is common, it is rarely recognised in childhood, sometimes being identified with speech or developmental delay or incidental antenatal diagnosis. The only regular feature is testicular dysfunction. The postnatal gonadotropin surge (mini-puberty) may be lower but treatment with testosterone needs prospective studies. The onset of puberty is at the normal age and biochemical hypogonadism does not typically occur until late-puberty. Testosterone supplementation can be considered then or earlier for clinical hypogonadism. The size at birth is normal, but growth acceleration is more rapid in early and mid-childhood with adult height greater than mid-parental height. Extreme tall stature is unusual. The incidence of adolescent gynaecomastia (35.6%) is not increased compared with typically developing boys. It can be reduced or resolved by testosterone supplementation potentially preventing the need for surgery. Around two-thirds require speech and language therapy or developmental support and instituting therapy early is important. Provision of psychological support may be helpful to ameliorate these experiences and provide opportunities to develop strategies to recognise, process and express feelings and thoughts. KS boys are at increased risk of impairment in social cognition and less accurate in perceptions of social emotional cues. The concept of likely fertility problems needs introduction alongside the regular reviews of puberty and sexual function in adolescents. Although there is now greater success in harvesting sperm through techniques such as testicular sperm extraction, it is more successful in later adolescence than earlier. In-vitro maturation of germ cells is still experimental.