From growth hormone deficiency to Kleefstra-2 syndrome: diagnostic  reassessment of treatment-refractory short stature

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),...

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Autors principals:	Azzeddine Laaraje, Khadija Abassi, Abdelilah Radi, Rachid Abilkassem
Format:	Artigo
Idioma:	Inglês
Publicat:	Termedia Publishing House 2026-01-01
Col·lecció:	Pediatric Endocrinology, Diabetes and Metabolism
Matèries:	neurodevelopmental disorders kleefstra-2 syndrome growth hormone deficiency growth hormone insensitivity laron syndrome
Accés en línia:	https://www.termedia.pl/From-growth-hormone-deficiency-to-Kleefstra-2-syndrome-diagnostic-reassessment-of-treatment-refractory-short-stature,138,57427,1,1.html
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