Wiedemann-Steiner syndrome (WSS) is an autosomal dominant disorder caused by variants in the lysine-specific methyltransferase 2 A (KMT2A) gene. It is characterized by developmental delay, intellectual disability, hypertrichosis, growth retardation, and distinctive facial appearance. Reports on adult patients with WSS remain limited. We report the case of a 26-year-old woman with WSS who presented with oligomenorrhea for 11 years and irregular menstruation for 2 years. Since birth, she had hypertrichosis on her back and extremities, growth and development retardation, and brachydactyly. She had been receiving antipsychotic treatment with risperidone and trihexyphenidyl for the past two years. Laboratory evaluation revealed hyperprolactinemia (prolactin 1062.96 mIU/L; reference range 59.00–619.00 mIU/L), hyperandrogenemia, impaired glucose tolerance, insulin resistance, and hyperuricemia. Magnetic resonance imaging showed a pituitary microadenoma, which was confirmed as non-functioning following comprehensive pituitary hormone assessment. Whole-exome sequencing identified a de novo variant in the KMT2A gene: c.173dupC (p.Ala59Glyfs*88). Regarding management, risperidone and trihexyphenidyl were switched to aripiprazole on psychiatric advice. Half a month after the medication change, prolactin decreased to 124.32 mIU/L and remained at 129.73 mIU/L six months later. Clinicians should be aware of the risk of antipsychotic-induced hyperprolactinemia in patients with WSS receiving such treatment. Moreover, endocrine-related issues warrant greater attention in the clinical management of these patients, particularly in adulthood.
Liang et al. (Sat,) studied this question.