The role of the SHOX gene in the pathophysiology of Turner syndrome
Abstract
Turner syndrome (TS) affects 1:2500 live females. It is caused by partial or complete absence of a sex chromosome. Patients with deletions of the distal segment of the short arm of X chromosome (Xp-) including haploinsufficiency of the SHOX (short stature homeobox) have, more often, short stature, skeletal abnormalities and hearing impairments. This article evaluates the current knowledge of the SHOX gene role in TS pathophysiology. Articles were searched from MEDLINE and LILACS databases, in the past 10 years, using the following keywords: Turner syndrome, SHOX gene, haploinsufficiency, short stature and hearing loss. As the inheritance of only one copy of the SHOX gene does not explain most of TS anomalies, more studies are needed to explain them. These studies will also improve understanding how SHOX participates in cartilage and bone growth and will help develop novel therapeutic strategies focused on SHOX-related disorders.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Adult height displays an apparent dose dependency on SHOX gene copy number that contributes to explaining short stature of 45,XO females and tall stature of 47,XXY males.
“Adult height displays an apparent dose dependency on SHOX gene copy number that is a major factor contributing to explaining both the short stature of 45,XO females (Turner syndrome), who have a single copy of the SHOX gene, as well as the tall stature of 47,XXY males (Klinefelter syndrome), who have three copies (161).”
From Circulating Testosterone as the Hormonal Basis of Sex Differences in Athletic Performance (2018) · cites this paper as [161]
The small human Y chromosome has few functional genes and none with a known effect on height other than the SHOX gene.
“The small human Y chromosome has few functional genes and none with a known effect on height other than the short stature homeobox (SHOX) gene, located in the pseudoautosomal regions of the tip of the short arms of X and Y chromosomes (161).”
From Circulating Testosterone as the Hormonal Basis of Sex Differences in Athletic Performance (2018) · cites this paper as [161]
The citation lists haven’t been fetched yet
References 63 · Cited by 49
- Authors
- Oliveira, C. S., & Alves, C.
- Venue
- Endocrinología y Nutrición
- Publisher
- Elsevier BV
- Published
- 2011-10
- Volume
- 58
- Issue
- 8
- Pages
- 433-442
- ISSN
- 1575-0922 (ISSN-L)
- OpenAlex
- W2155344424
- Cited by
- 49
- References
- 63
- Citations by year
- 2026: 3 · 2025: 3 · 2024: 3 · 2023: 2 · 2022: 3 · 2021: 4 · 2020: 4 · 2019: 6 · 2018: 3 · 2017: 3 · 2016: 2 · 2015: 3 · 2014: 4 · 2013: 5 · 2012: 1
- FWCI
- 0.34
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Endocrinología y Nutrición (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Keywords
- Turner syndrome, SHOX gene, haploinsufficiency, short stature, hearing loss, skeletal abnormalities, X chromosome deletion, pathophysiology
- MeSH terms
- Short Stature Homeobox Protein, Bone Development, Chromosome Deletion, Chromosomes, Human, Pair 3, Dwarfism, Female, Genes, Homeobox, Hearing Loss, Sensorineural, Humans, Mesoderm, Mutation, Phenotype, Turner Syndrome, Gene Deletion, Alternative Splicing, Homeodomain Proteins, Gene Expression Regulation, Developmental, Human Growth Hormone, Chromosomes, Human, X, X Chromosome Inactivation
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
