Height Growth Impairment in Children With Neurofibromatosis Type 1 Is Characterized by Decreased Pubertal Growth Velocity in Both Sexes

Previous studies have suggested that children with neurofibromatosis type 1 are shorter than their unaffected counterparts as an effect of a germline NF1 gene mutation. The pathophysiology of this effect is still uncertain. The purpose of this study was to characterize longitudinal growth in children with neurofibromatosis type 1 in order to assess growth velocity and its influence on stature. Longitudinal height data were collected for 188 patients with a confirmed clinical diagnosis of neurofibromatosis type 1. Children with neurofibromatosis type 1 had population mean heights statistically different from the general population, with a reduced peak height velocity during pubertal growth. In addition, there were no significant differences in the timing of peak height velocity during puberty between the general population and those with neurofibromatosis type 1. These data demonstrate that short stature in neurofibromatosis type 1 is due in part to subnormal height acquisition during puberty.

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Growth in achondroplasia, from birth to adulthood, analysed by the JPA-2 model

Journal of Pediatric Endocrinology and Metabolism ◽

10.1515/jpem-2020-0298 ◽

2020 ◽

Vol 33 (12) ◽

pp. 1589-1595

Author(s):

Mariana del Pino ◽

Virginia Fano ◽

Paula Adamo

Keyword(s):

General Population ◽

Growth Curve ◽

Growth Velocity ◽

Adult Height ◽

Growth Curves ◽

Peak Height ◽

Height Growth ◽

Individual Growth ◽

Height Velocity ◽

Peak Height Velocity

AbstractObjectivesIn general population, there are three phases in the human growth curve: infancy, childhood and puberty, with different main factors involved in their regulation and mathematical models to fit them. Achondroplasia children experience a fast decreasing growth during infancy and an “adolescent growth spurt”; however, there are no longitudinal studies that cover the analysis of the whole post-natal growth. Here we analyse the whole growth curve from infancy to adulthood applying the JPA-2 mathematical model.MethodsTwenty-seven patients, 17 girls and 10 boys with achondroplasia, who reached adult size, were included. Height growth data was collected from birth until adulthood. Individual growth curves were estimated by fitting the JPA-2 model to each individual’s height for age data.ResultsHeight growth velocity curves show that after a period of fast decreasing growth velocity since birth, with a mean of 9.7 cm/year at 1 year old, the growth velocity is stable in late preschool years, with a mean of 4.2 cm/year. In boys, age and peak height velocity in puberty were 13.75 years and 5.08 cm/year and reach a mean adult height of 130.52 cm. In girls, the age and peak height velocity in puberty were 11.1 years and 4.32 cm/year and reach a mean adult height of 119.2 cm.ConclusionsThe study of individual growth curves in achondroplasia children by the JPA-2 model shows the three periods, infancy, childhood and puberty, with a similar shape but lesser in magnitude than general population.

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A highly informative CA/GT repeat polymorphism in intron 38 of the human neurofibromatosis type 1 (NF1) gene

Human Genetics ◽

10.1007/bf01247353 ◽

1993 ◽

Vol 92 (4) ◽

pp. 429-430 ◽

Cited By ~ 53

Author(s):

Conxi L�zaro ◽

Antonia Gaona ◽

Ganfeng Xu ◽

Robert Weiss ◽

Xavier Estivill

Keyword(s):

Neurofibromatosis Type 1 ◽

Neurofibromatosis Type ◽

Repeat Polymorphism ◽

Nf1 Gene

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A large deletion (1.5 Mb) encompassing the neurofibromatosis type 1 (NF1) gene in a patient with sporadic NF1 associated with dysmorphism, mental retardation, and unusual ocular and skeletal features

Clinical Dysmorphology ◽

10.1097/01.mcd.0000077565.66911.43 ◽

2003 ◽

Vol 12 (3) ◽

pp. 199-201 ◽

Cited By ~ 1

Author(s):

Cagatay Oktenli ◽

Mutlu Saglam ◽

Seref Demirbas ◽

Peter Thompson ◽

Meena Upadhyaya ◽

...

Keyword(s):

Mental Retardation ◽

Neurofibromatosis Type 1 ◽

Neurofibromatosis Type ◽

Large Deletion ◽

Nf1 Gene

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Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1

Molecular Genetics & Genomic Medicine ◽

10.1002/mgg3.1631 ◽

2021 ◽

Author(s):

Nahla Abdel‐Aziz ◽

Ghada El‐Kamah ◽

Rabab Khairat ◽

Hanan Mohamed ◽

Yehia Gad ◽

...

Keyword(s):

Neurofibromatosis Type 1 ◽

Neurofibromatosis Type ◽

Mutational Spectrum ◽

Nf1 Gene

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A deletion in the 5 ′-region of the neurofibromatosis type 1 (NF1) gene

Human Genetics ◽

10.1007/bf02272852 ◽

1994 ◽

Vol 94 (1) ◽

pp. 97-100 ◽

Cited By ~ 5

Author(s):

Sven Hoffmeyer ◽

Günter Assum ◽

Dieter Kaufmann ◽

Kirsten Schwenk ◽

Winfrid Krone

Keyword(s):

Neurofibromatosis Type 1 ◽

Neurofibromatosis Type ◽

Nf1 Gene

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Growth and Normal Puberty

PEDIATRICS ◽

10.1542/peds.102.s3.507 ◽

1998 ◽

Vol 102 (Supplement_3) ◽

pp. 507-511 ◽

Cited By ~ 4

Author(s):

Val Abbassi

Keyword(s):

Adult Height ◽

Average Rate ◽

Final Height ◽

Peak Height ◽

Height Velocity ◽

Peak Height Velocity ◽

Pubertal Stage ◽

Pubertal Growth ◽

Velocity Peak ◽

The Mean

We reviewed the growth characteristics of American boys and girls from published studies, including age at takeoff, age at peak height velocity, peak height velocity, duration of puberty, and the magnitude of the pubertal contribution to adult height. Age at takeoff is highly variable and sex-dependent. The mean takeoff age in children growing at an average rate is ∼11 years in boys and 9 years in girls, and peak height velocity occurs at a mean age of 13.5 years and 11.5 years, respectively, in these children. Whole-year peak height velocity is 9.5 cm/y in boys and 8.3 cm/y in girls, with slight variations in the different studies. The contribution of pubertal growth to final height is ∼30 to 31 cm in boys, accounting for 17% to 18% of the final height, and 27.5 to 29 cm in girls, accounting for 17% of the final height. The magnitude of pubertal growth has a negative correlation with age at takeoff, but no correlation with final height. Age at takeoff, however, correlates highly with pubertal stage, but correlates negatively with duration of puberty.

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