ArticlePediatric endocrinology, diabetes, and metabolism2025
From growth hormone deficiency to Kleefstra-2 syndrome: diagnostic reassessment of treatment-refractory short stature.
Article in Pediatric endocrinology, diabetes, and metabolism, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
We report a 12-year-old girl with developmental delay, dysmorphic features, and short stature initially diagnosed with growth hormone deficiency at age 7. Despite appropriate growth hormone treatment for four years with documented insulin-like growth factor-1 (IGF-1) normalization (64→241.7 ng/ml), growth velocity remained suboptimal (5-6 cm/year vs. expected 7-8 cm/year). Clinical examination revealed triangular facies, hypertelorism, gingival hyperplasia, moderate intellectual disability, and delayed language development (first words at 3 years). Whole exome sequencing identified a novel de novo heterozygous KMT2C mutation (c.7444_7445insCC, p.Phe2482Serfs*34), confirming Kleefstra-2 syndrome diagnosis. Treatment resistance despite a biochemical response suggests possible post-receptor IGF-1 resistance, potentially related to epigenetic dysregulation. This represents the first documented case of growth hormone deficiency with detailed endocrine characterization in Kleefstra-2 syndrome, expanding the phenotypic spectrum and highlighting the importance of considering genetic syndromes in treatment-refractory short stature.
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