Growth velocity and biological variables during puberty in achondroplasia
-
Mariana del Pino
,
Virginia Fano
Abstract
Background:
Achondroplasia is the most common form of inherited disproportionate short stature. Cross-sectional design studies of height show that, during childhood, height standard deviation scores (SDS) declines steadily and reaches a mean adult height at −6.42 and −6.72 SDS. However, there is a lack of knowledge about longitudinal growth and biological variables during puberty for children with achondroplasia. Here we report the growth velocity and biological parameters during puberty in children with achondroplasia.
Methods:
The study was an observational, cohort study. A total of 23 patients, 15 girls and eight boys with achondroplasia, who reached adult size were included. Growth data was collected from mid-childhood until final height by the same trained observer. Individual growth curves were estimated by fitting the Preece-Baines model 1 (PB1) to each individual’s height for age data. Pubertal development was scored on Tanner scale on each visit.
Results:
In boys with achondroplasia the mean adult height was 129.18 cm. Age and velocity at peak velocity in puberty were 13.89 years and 4.86 cm/year, respectively. The adolescent gain was 20.40 cm. Mean age at genital development 2 and 5 were 12.16 (0.60) and 14.97 (0.88), respectively. In girls the mean adult height was 118.67 cm. Age and velocity at peak velocity in puberty were 11.45 years and 4.40 cm/year, respectively. The adolescent gain was 19.35 cm. Mean age at breast 2 and 4 were 10.20 (1.24) and 12.49 (1.07), respectively.
Conclusions:
Children with achondroplasia experienced an adolescent growth spurt, which was similar in shape and half the magnitude of the non-achondroplasia population.
Acknowledgments
Thanks to Ronald Hauspie†, who taught and trained us in mathematical models to analyze longitudinal growth data.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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Articles in the same Issue
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- Outcomes of mitochondrial derived diseases: a single-center experience
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- Phenotypic presentation of adolescents with overt primary hypothyroidism
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- Employing a results-based algorithm to reduce laboratory utilization in ACTH stimulation testing
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- Hypercalcemia, hyperkalemia and supraventricular tachycardia in a patient with subcutaneous fat necrosis
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Articles in the same Issue
- Frontmatter
- Original Articles
- HbA1c levels in children with type 1 diabetes and correlation to diabetic retinopathy
- Relationship between urinary sodium-creatinine ratios and insulin resistance in Korean children and adolescents with obesity
- Prevalence of comorbid conditions pre-existing and diagnosed at a tertiary care pediatric weight management clinic
- The relationship between diet quality and insulin resistance in obese children: adaptation of the Healthy Lifestyle-Diet Index in Turkey
- Outcomes of mitochondrial derived diseases: a single-center experience
- Metabolic and genetic markers’ associations with elevated levels of alanine aminotransferase in adolescents
- Phenotypic presentation of adolescents with overt primary hypothyroidism
- Growth velocity and biological variables during puberty in achondroplasia
- Employing a results-based algorithm to reduce laboratory utilization in ACTH stimulation testing
- Investigating the changes in amino acid values in premature infants: a pilot study
- A hierarchical Bayesian tri-variate analysis on factors associated with anthropometric measures in a large sample of children and adolescents: the CASPIAN-IV study
- Smith-Lemli-Opitz syndrome: clinical and biochemical correlates
- Case Reports
- Sporadic pediatric papillary thyroid carcinoma harboring the ETV6/NTRK3 fusion oncogene in a 7-year-old Japanese girl: a case report and review of literature
- Hypercalcemia, hyperkalemia and supraventricular tachycardia in a patient with subcutaneous fat necrosis
- Late presentation of glycogen storage disease types Ia and III in children with short stature and hepatomegaly
- A novel paraneoplastic syndrome with acquired lipodystrophy and chronic inflammatory demyelinating polyneuropathy in an adolescent male with craniopharyngioma
