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- Hisakazu Nakajima, Kazuki Kodo, Hidechika Morimoto, Shinsuke Hori, and Satoru Sugimoto.
- Department of Pediatrics, North Medical Center Kyoto Prefectural University of Medicine, Japan.
- Intern. Med. 2024 Jul 11.
AbstractA six-year-old boy presented with short stature and gingival fibromatosis (GF). Dysmorphic features included slant optic fissures, a high-arched palate, thick earlobes, and an edematous face. Laboratory tests showed low levels of serum insulin-like growth factor-1 and serum free thyroxine but normal serum thyrotropin levels. Provocative tests suggested growth hormone deficiency, central hypocortisolemia, and hypothalamic hypothyroidism. At 12 years old, hypogonadotropic hypogonadism was observed. Next-generation sequencing revealed a heterozygous missense variant, KCNQ1 p. (P369L), in the proband and mother. The coexistence of multiple pituitary hormone deficiencies and GF helps diagnose KCNQ1-variant dysmorphic syndrome through genetic testing.
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