Kanouse Andrew, Salemi Parissa
Division of Diabetes and Endocrinology, Department of Pediatrics, Cohen Children's Medical Center, New Hyde Park, NY 11042, USA.
JCEM Case Rep. 2025 May 15;3(7):luaf110. doi: 10.1210/jcemcr/luaf110. eCollection 2025 Jul.
Non-POU domain-containing octamer-binding (associated X-linked intellectual disability syndrome (NAXIS) is a rare disorder characterized by findings that include cardiomyopathy, feeding difficulties, intellectual disability, and seizures that has previously been reported only in males. Here, we describe a girl with Turner syndrome (TS) due to (45,X/46,X,r(X)) mosaicism. She demonstrates typical features of TS, such as a bicuspid aortic valve and growth failure, but also displays symptoms not typical of TS that are more severe than expected in classic TS. Whole-exome sequencing revealed a likely pathogenic variant in the gene, providing an explanation for her unexpected symptoms. This case highlights the importance of considering an evaluation for X-linked disorders in individuals with TS presenting with atypical symptoms, as this can assist the family and the medical team with expectant management.
非POU结构域八聚体结合蛋白（相关X连锁智力障碍综合征，NAXIS）是一种罕见疾病，其特征包括心肌病、喂养困难、智力障碍和癫痫发作，此前仅在男性中报道过。在此，我们描述一名因（45,X/46,X,r(X)）嵌合体导致特纳综合征（TS）的女孩。她表现出TS的典型特征，如二叶主动脉瓣和生长发育迟缓，但也出现了TS非典型症状，且比经典TS预期的更为严重。全外显子测序揭示该基因中一个可能的致病变异，为她的意外症状提供了解释。该病例突出了对于出现非典型症状的TS个体考虑进行X连锁疾病评估的重要性，因为这有助于家庭和医疗团队进行预期管理。
