While we are still learning how chromosome 8p rearrangements specifically affect individuals, we know that it impacts every cell in the body. Providers should adhere to established guidelines when treating endocrine conditions/symptoms in individuals with chromosome 8p rearrangements.
The following endocrine conditions have been reported in individuals with chromosome 8p rearrangements, however, limited data makes it challenging to determine the exact relationship between these conditions and the chromosome 8p rearrangements:
- Precocious Puberty
- Hypothyroidism
- Short Stature
- Adrenal Insufficiency
- Failure to Thrive/Poor Weight Gain
- Obesity has only been reported by individuals with an 8p deletion only
While the exact prevalence and impact are still being studied, providers should be aware of these potential issues and manage them according to standard clinical practice.
Short Stature
Short stature is a condition in which a child is shorter than 95% to 97% of other children of the same age and sex, and population group.
If a child is growing at a normal rate but is shorter than their peers, it may not be a cause for concern. However, if a child shows below-average growth over the course of a year, further evaluation may be needed.
Typical growth is:
- About 10 inches from age 0 to 1
- About 5 inches from age 1 to 2
- About 3.5 inches from age 2 to 3
- About 2 inches per year from age 3 until puberty1
16% of 8p Heroes in the Chromosome 8p report short stature
Project 8p Foundation Affiliated Research on Chromosome 8p Disorders
While the exact prevalence of Short Stature in individuals with chromosome 8p rearrangements is not well established, it is recognized as a common symptom. Research provides a clearer picture of the prevalence range, although results can vary based on the size and characteristics of the populations studied.
- A 2019 study,
Clinical and genomic characterization of 8p cytogenomic disorder reported 14% of the participating patients reported Short Stature.2
Screening
- Height (length for those who cannot stand), weight and BMI should be taken at every visit.
- A noticeable plateau or halt in growth compared to prior percentiles should lead to further evaluation, such as investigating nutritional deficiencies or potential endocrine issues.
Treatment
- The treatment for short stature depends on the underlying cause, as well as the child’s age, overall health, and medical history. In many cases, close monitoring of the child’s growth and development is all that is required.
- If malnutrition is identified, nutritional therapy should be initiated to support growth.
- If a hormone imbalance is suspected, consultation with an endocrinologist is recommended for further evaluation and management.
- Children’s Hospital Colorado, Short Stature
- Okur, Volkan, Chung, Wendy et al. “Clinical and Genomic Characterization of 8p Cytogenomic Disorders.” Genetics in Medicine, https://project8p.org/wp-content/uploads/2023/08/s41436-021-01270-2.pdf
Understanding Short Stature
8p Hero Insights
Management and Care Recommendations
Resources
Understanding Short Stature
If a child is growing at a normal rate but is shorter than their peers, it may not be a cause for concern. However, if a child shows below-average growth over the course of a year, further evaluation may be needed.
Typical growth is:
Typical growth is:
- About 10 inches from age 0 to 1
- About 5 inches from age 1 to 2
- About 3.5 inches from age 2 to 3
- About 2 inches per year from age 3 until puberty
8p Hero Insights
16% of 8p Heroes in the Chromosome 8p report short stature
Project 8p Foundation Affiliated Research on Chromosome 8p Disorders
While the exact prevalence of Short Stature in individuals with chromosome 8p rearrangements is not well established, it is recognized as a common symptom. Research provides a clearer picture of the prevalence range, although results can vary based on the size and characteristics of the populations studied.
Project 8p Foundation Affiliated Research on Chromosome 8p Disorders
While the exact prevalence of Short Stature in individuals with chromosome 8p rearrangements is not well established, it is recognized as a common symptom. Research provides a clearer picture of the prevalence range, although results can vary based on the size and characteristics of the populations studied.
- A 2019 study, Clinical and genomic characterization of 8p cytogenomic disorder reported 14% of the participating patients reported Short Stature.2
Management and Care Recommendations
Screening
Treatment
- Height (length for those who cannot stand), weight and BMI should be taken at every visit.
- A noticeable plateau or halt in growth compared to prior percentiles should lead to further evaluation, such as investigating nutritional deficiencies or potential endocrine issues.
Treatment
- The treatment for short stature depends on the underlying cause, as well as the child’s age, overall health, and medical history. In many cases, close monitoring of the child’s growth and development is all that is required.
- If malnutrition is identified, nutritional therapy should be initiated to support growth.
- If a hormone imbalance is suspected, consultation with an endocrinologist is recommended for further evaluation and management.
Resources
- Children’s Hospital Colorado, Short Stature
- Okur, Volkan, Chung, Wendy et al. “Clinical and Genomic Characterization of 8p Cytogenomic Disorders.” Genetics in Medicine,
https://project8p.org/wp-content/uploads/2023/08/s41436-021-01270-2.pdf
Project 8p Insights Portal
To generate the visualization, please select at least one 8p genotype. You may choose multiple genotypes or select all to view insights from all 8p Heroes in the Chromosome 8p Registry.
[patient_navigators_code organ="endocrine" label="Endocrine"]
This visualization is powered by research sponsored by Project 8p and survey data collected from the Chromosome 8p Registry, representing insights from a total of 120 8p heroes. It is part of the soon-to-launch Insights Portal, designed to offer advanced tools for data analysis, access, and visualizations, accelerating research and discovery for chromosome 8p disorders.
Last Update 10/30/2024
