Diagnosis and recombinant human growth hormone treatment of Wiedemann-Steiner syndrome: discovery of novel KMT2A variants and review of existing literature.

ABSTRACT:

Purpose

Wiedemann-Steiner syndrome (WDSTS) is an autosomal dominant disorder with broad and variable phenotypes including short stature. This study aims to determine the long-term effect of recombinant human growth hormone (rhGH) treatment on WDSTS and summarize the phenotypes and genotypes of WDSTS.

Methods

We analyzed the clinical and genetic features of five patients with WDSTS, and comprehensively reviewed reported WDSTS diagnostic features.

Results

Four patients had short stature, one exhibited early puberty, and all exhibited distinctive facial features, intellectual disabilities, and hypertrichosis. Two patients had subnormal GH peaks. Three patients treated with rhGH for 1.5-4.9 years showed height gains (1.8, 1.1, and 1.9 standard deviations score [SDS]); pat

SUBMITTER: Wang M 

PROVIDER: S-EPMC12224386 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature