Genetic Testing of Children With Familial Tall Stature: Is it Worth Doing?
Authors' conclusion
Monogenic (and cytogenetic) etiology of FTS can be found among children with FTS. Genetic examination should be considered in all children with FTS regardless of the presence of dysmorphic features.
Study context
- Population
- Children with familial tall stature (life-maximum height of child and taller parent >2 SD for age and sex) referred to the Endocrinology center of Motol University Hospital19 girls
- Participants
- 34 children
- Outcome
- Genetic etiology of FTS
Methodological detailssingle-centre, next-generation sequencing panel of 786 growth-associated genes, cytogenetic examination, Genetic results evaluated by American College of Molecular Genetics and Genomics guidelines, All participants underwent standard endocrinological examination and specialized anthropometric evaluation
- Single-centre
- Next-generation sequencing panel of 786 growth-associated genes
- Cytogenetic examination
- Genetic results evaluated by American College of Molecular Genetics and Genomics guidelines
- All participants underwent standard endocrinological examination and specialized anthropometric evaluation
Main finding
As reported in the abstract
Genetic cause of FTS elucidated
Genetic cause of familial tall stature (FTS) elucidated (47,XXX and 47,XYY karyotypes, SHOX duplication, causative variants in NSD1 [2], SUZ12 [2], FGFR3, CHD8, GPC3, PPP2R5D)
11 of 34
32.4%
Observational data: associations, not effects.
Further findings
Height
- Median height of children
- 3.1 SD
- Median height of taller parent
- 2.5 SD
Phenotype
- Children with absent syndromic signs
- 10
- Children with dysmorphic features
- 24
Original publication
Genetic Testing of Children With Familial Tall Stature: Is it Worth Doing? J Clin Endocrinol Metab. Published 2 February 2024. doi:10.
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