Clarke A, Burn J
Institute of Medical Genetics for Wales, University of Wales College of Medicine, Heath Park, Cardiff.
J Med Genet. 1991 May;28(5):330-3. doi: 10.1136/jmg.28.5.330.
X linked hypohidrotic ectodermal dysplasia (XHED) affects many epithelial functions, including sweat gland formation. Female carriers who manifest XHED may have defective dentition or a patchy distribution of sweating or both, as determined by starch and iodine sweat testing. Such sweat testing can be useful in assigning carrier status to at risk females in XHED families, and in obtaining an accurate diagnosis for isolated females who present with features of ectodermal dysplasia. The advantages of diagnosing female carriers of XHED include the optimisation of neonatal and paediatric care for affected male infants, who may be at substantial risk of death in infancy.
X连锁低汗性外胚层发育不良（XHED）会影响多种上皮功能，包括汗腺形成。表现出XHED的女性携带者可能有牙列缺陷或出汗分布不均或两者皆有，这可通过淀粉碘汗液测试来确定。这种汗液测试有助于确定XHED家族中高危女性的携带者状态，并为表现出外胚层发育不良特征的孤立女性进行准确诊断。诊断XHED女性携带者的好处包括优化对受影响男婴的新生儿和儿科护理，因为这些男婴在婴儿期可能面临很高的死亡风险。
