Biomaterial Database

Pubertal growth in height, sitting height and leg length in achondroplasia. 2021

T J Cole, and M Del Pino, and P Adamo, and V Fano

Population, Policy and Practice Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, London, UK.

Background: Children with achondroplasia (ACH) appear to lack a pubertal growth spurt in height.Aim To explore the growth spurt in height and its segments sitting height and leg length, in a large sample of ACH cases using growth curve modelling.Subjects and methods: Height and sitting height were measured longitudinally in ACH children, and the data were analysed using the SITAR (SuperImposition by Translation and Rotation) growth model, which estimates a mean growth curve and random effects for individuals defining differences in size, pubertal timing and intensity.Results: Out of 402 ACH children, 85 boys and 75 girls aged 7-20 years had respectively 529 and 454 measurements of height and sitting height, with leg length calculated by difference. SITAR analysis identified peaks in mean height velocity at 13.3 and 11.3 years in boys and girls, with peak velocities of 4.3 and 4.4 cm/year. Mean peak velocity for sitting height was 3.0 cm/year, but leg length showed no peak. The SITAR models explained 92% to 99% of the cross-sectional variance.Conclusion: ACH children do experience a growth spurt in puberty, but only half that of control children. The spurt is due entirely to sitting height, with no leg length spurt.

UI	MeSH Term	Description	Entries
D007866	Leg	The inferior part of the lower extremity between the KNEE and the ANKLE.	Legs
D008297	Male		Males
D011627	Puberty	A period in the human life in which the development of the hypothalamic-pituitary-gonadal system takes place and reaches full maturity. The onset of synchronized endocrine events in puberty lead to the capacity for reproduction (FERTILITY), development of secondary SEX CHARACTERISTICS, and other changes seen in ADOLESCENT DEVELOPMENT.	Puberties
D001827	Body Height	The distance from the sole to the crown of the head with body standing on a flat surface and fully extended.	Body Heights,Height, Body,Heights, Body
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D005260	Female		Females
D006128	Growth	Gradual increase in the number, the size, and the complexity of cells of an individual. Growth generally results in increase in ORGAN WEIGHT; BODY WEIGHT; and BODY HEIGHT.
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000077708	Sitting Position		Seated Position,Sitting,Position, Seated,Position, Sitting,Positions, Seated,Seated Positions,Sitting Positions
D000130	Achondroplasia	An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001)	Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans,Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans,SADDAN,SADDAN Dysplasia,Skeleton-Skin-Brain Syndrome,Achondroplasias,Dysplasia, SADDAN,Dysplasias, SADDAN,SADDAN Dysplasias,SADDANs,Skeleton Skin Brain Syndrome,Skeleton-Skin-Brain Syndromes,Syndrome, Skeleton-Skin-Brain,Syndromes, Skeleton-Skin-Brain