Final adult height in long-term growth hormone-treated achondroplasia patients

Le résumé fourni par la source

Achondroplasia (ACH) is the most common genetic form of disproportionate short stature, occurring in 1:15,000 –1:40,000 live births [28]. Most patients have a gain of function mutation in the transmembrane domain of the fibroblast growth factor receptor 3 (FGFR3), leading to prolonged intracellular MAPK signaling. FGFR3 works as a negative regulator of bone development. FGFR3 over-activation alters the terminal chondrocyte differentiation into hypertrophic chondrocytes, shortening the proliferation phase. ACH involves long bones, vertebrae and base of skull, resulting in short-limbed severe short stature, relative macrocephaly with prominent forehead, midface hypoplasia, lumbar lordosis, trident configuration of hands and hydrocephalus, secondary to foramen magnum narrowing. ACH patients have severe growth retardation and experience decreased pubertal growth spurt, ultimately leading to extremely short adult height which on average is 130 (118–145) cm in males and 120 (112–136) cm in females.

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