Tian Huihui, Wang Hefei, Liu Jidong, Zhang Shanshan
Jinan AXZE Medical Test Laboratory, Jinan, Shandong Province, China.
Department of Endocrinology and Metabolism, Qilu Hospital, Shandong University, Jinan, China.
J Med Case Rep. 2025 Apr 30;19(1):198. doi: 10.1186/s13256-025-05250-x.
Kabuki syndrome (KS) is a rare, multisystemic genetic disorder caused by mutations in either the KMT2D or KDM6A genes. It is characterized by distinctive dysmorphic facial features, intellectual disability, and a variety of congenital anomalies. Endocrine manifestations such as growth hormone deficiency, hypoglycemia, and less frequently, diabetes mellitus (DM) and menstrual irregularities, have been reported. The diagnosis of KS can be challenging due to its phenotypic variability.
We report a case of a 18 year-old female Han Chinese patient with KS who presented with menstrual irregularities, specifically oligomenorrhea, and a newly diagnosed non-autoimmune DM. She exhibited typical KS-related facial dysmorphism, short stature, and intellectual disability. Genetic testing confirmed a de novo mutation in the KDM6A gene (NM_021140.4:c.2177del). This case highlights the importance of recognizing uncommon endocrine presentations of KS, such as DM and menstrual disturbances, which may emerge during adolescence.
This case illustrates the necessity of monitoring for endocrine complications, including glycemic abnormalities and reproductive issues, in patients with KS. Early recognition and intervention in these patients may improve outcomes and quality of life. Further research is needed to elucidate the mechanisms linking KDM6A mutations to endocrine dysfunction in KS.
歌舞伎综合征（KS）是一种罕见的多系统遗传性疾病，由KMT2D或KDM6A基因的突变引起。其特征为独特的面部畸形特征、智力障碍以及多种先天性异常。已报道有内分泌表现，如生长激素缺乏、低血糖，较少见的有糖尿病（DM）和月经不调。由于其表型的变异性，KS的诊断可能具有挑战性。
我们报告一例18岁汉族女性KS患者，该患者出现月经不调，具体为月经过少，以及新诊断的非自身免疫性DM。她表现出典型的KS相关面部畸形、身材矮小和智力障碍。基因检测证实KDM6A基因（NM_021140.4:c.2177del）存在新发突变。该病例突出了认识KS不常见内分泌表现（如DM和月经紊乱）的重要性，这些表现可能在青春期出现。
该病例说明了对KS患者监测内分泌并发症（包括血糖异常和生殖问题）的必要性。对这些患者的早期识别和干预可能改善预后和生活质量。需要进一步研究以阐明KDM6A突变与KS内分泌功能障碍之间的联系机制。
