Assessment of body fat mass, anthropometric measurement and cardiometabolic risk in children and adolescents with achondroplasia and hypochondroplasia

Endocr J. 2023 Apr 28;70(4):435-443. doi: 10.1507/endocrj.EJ22-0477. Epub 2023 Feb 4.


Achondroplasia is a rare skeletal dysplasia characterized by rhizomelic short stature, whose prevalence is about 1 per 25,000 births. For some patients with achondroplasia, excess body weight is one of the major concerns due to an impaired linear growth. Epidemiological studies revealed a premature onset of cardiovascular or cerebrovascular events in achondroplasia. An association between obesity and cardiometabolic risk factors related to cardiovascular events remains unknown in patients with achondroplasia/hypochondroplasia. This cross-sectional study investigated anthropometric measurements, body compositions and cardiometabolic risk factors in pediatric patients with achondroplasia/hypochondroplasia. Thirty-two patients with achondroplasia and ten with hypochondroplasia aged between 1.9 and 18.7 years were enrolled in this study. Half of the participants presented at least one cardiometabolic abnormality. Elevated systolic blood pressure was the most common abnormality. None of the participants developed metabolic syndrome or type 2 diabetes mellitus. Body mass index-standard deviation score and hip/height ratio were strongly correlated with percent body fat assessed by dual energy X-ray absorptiometry although no significant association was found between anthropometric measurements or body fat mass and any cardiometabolic risk factors. No significant difference in body fat mass, as well as body mass index-standard deviation score and hip/height, was found between cardiometabolically normal group and cardiometabolically abnormal groups. These results suggest that not only weight gain and hip/height changes should be monitored but also individual cardiometabolic risk factors should be evaluated to avoid cardiometabolic events in the healthcare management of pediatric patients with achondroplasia/hypochondroplasia.

Keywords: Achondroplasia; Cardiometabolic risk factor; Excess body weight; Hypochondroplasia; Percent body fat.

MeSH terms

  • Achondroplasia* / complications
  • Achondroplasia* / epidemiology
  • Adolescent
  • Body Mass Index
  • Cardiovascular Diseases* / epidemiology
  • Cardiovascular Diseases* / etiology
  • Child
  • Child, Preschool
  • Cross-Sectional Studies
  • Diabetes Mellitus, Type 2*
  • Humans
  • Infant
  • Risk Factors

Supplementary concepts

  • Hypochondroplasia