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Background <p>Kabuki syndrome (KS) is a rare, multisystemic genetic disorder caused by mutations in either the <i>KMT2D</i> or <i>KDM6A</i> 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&#xa0;(DM) and menstrual irregularities, have been reported. The diagnosis of KS can be challenging due to its phenotypic variability.</p> Case presentation <p>We report a case of a 18&#xa0;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 <i>de novo</i> mutation in the <i>KDM6A</i> 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.</p> Conclusion <p>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 <i>KDM6A</i> mutations to endocrine dysfunction in KS.</p>

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A KDM6 A variant in a Chinese female patient with diabetes mellitus and oligomenorrhea: a case report

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年4月30日

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  • Huihui Tian,
  • Hefei Wang,
  • Jidong Liu,
  • Shanshan Zhang

摘要

Background

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.

Case presentation

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.

Conclusion

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.