Case 1: The patient is a 3 year and 11-month-old female diagnosed with WSS due to deletion of KMT2A detected on CGH microarray. At two years and 11 months, imaging revealed an advanced bone age. We obtained an 11KT level on this patient. 11KT in case 1 was elevated at 26.3 ng/dL, while the normal reference range is 7.3-10.9 ng/dL and the reference interval for premature adrenarche is 12.3-22.9 ng/dL, The repeat 11KT at follow up (chronological age 4 years and 6 months) was still elevated at 33.8 ng/dL Case 2: A second child with WSS and a 5kb intragenic KMT2A deletion was evaluated at 11 months of age; his 11KT was 4.5 ng/dL.
The elevated 11KT may indicate maturational changes related to increasing adrenal gland androgenic activation and may explain the advanced bone age seen in some patients with WSS. To our knowledge, this is the first case report that describes 11KT as a bioactive androgen potentially causing bone age advancement in WSS. Lack of elevation of 11KT in the second child who is an infant suggests increasing androgenic precursors and metabolites related to premature adrenarche may need to be longitudinally followed.
病例1:患者是一名3岁零11个月的女性,由于在CGH微阵列上检测到的KMT2A缺失而被诊断为WSS。在两年零11个月的时候,成像显示骨龄提前。我们在该患者上获得了11KT水平。病例1中的11KT升高至26.3ng/dL,正常参考范围为7.3-10.9ng/dL,早熟肾上腺素的参考间隔为12.3-22.9ng/dL,随访时(实际年龄4岁零6个月)的重复11KT仍然升高,为33.8ng/dL。病例2:在11个月大时评估了第二个患有WSS和5kb基因内KMT2A缺失的孩子;他的11KT为4.5ng/dL。
11KT升高可能表明与肾上腺雄激素激活增加有关的成熟变化,并可能解释一些WSS患者的骨龄增加。据我们所知,这是第一例报道,将11KT描述为一种生物活性雄激素,可能导致WSS中的骨龄增加.婴儿第二个孩子缺乏11KT升高,这表明可能需要纵向随访与过早肾上腺素有关的雄激素前体和代谢产物的增加。