What question did this study set out to answer?

This study aims to assess SHOX gene expression in females with familial short stature to identify its role in growth deficiencies.

July 2, 2026Open Access

SHOX Gene Screening in Familial Short-stature Females

Key Points

This study aims to assess SHOX gene expression in females with familial short stature to identify its role in growth deficiencies.
Cross-sectional study conducted at AIIMS Rishikesh.
Participants included 36 short-stature females and 36 healthy females aged 5 to 18 years.
Ethics approval obtained; participants consented prior to inclusion.
Involvement of SHOX gene in familial short stature was indicated, as mutations were found more frequently in females than males.
Approximately 2-17% of short-stature children were suspected to have SHOX mutations, affirming its importance in height regulation.

Abstract

This study was designed to determine the functional status of SHOX gene expression in short-stature females.It was also compared to the control group to determine whether SHOX gene involvement in FSS could be revealed. Materials a n d MethodsThe cross-sectional (prospective) study was conducted in the Department of Human Anatomy, in collaboration with the Branch of Pediatrics and Biochemistry at AIIMS Rishikesh.After obtaining consent from the participants, who were seen in the Pediatric and Genetic Outpatient Department, the Institutional Ethics Committee approved the study (letter no.AIIMS/IEC/18/237).Between February 2019 and May 2021, 36 females with short stature and the same number of healthy females between the ages of 5 and 18 years introduction Many studies have shown that offspring with short stature are typically underassessed, as it is commonly assumed that being small is normal in familial short stature (FSS), given that their parents are also short.Nonetheless, genetic causes must be determined through rigorous testing.Familial short stature occurs when the patient's final adult height falls below the third percentile for age, sex, and population.FSS is reported worldwide in both sexes and across all races and locations. 1The remaining 80% of variation in height is governed by environmental factors like diet and disease exposure.There are numerous genes, such as SHOX, FGFR3, GH-IGF-1, SOX5, SOX6, CDKN1B, NPPC, and so on, that influence development directly or indirectly. 2,3SHOX Gene, likewise named PHOG, is a pseudoautosomal homeobox-containing osteogenic gene, 4 which lies on the actual tip of the short arm of both sex chromosomes. 4,5ealthy individuals have two copies of the SHOX Gene, one from each of the sex chromosomes, in both 46, XX and 46, XY individuals, as the quality in the pseudoautosomal region does not undergo X inactivation.In screening studies, the prevalence of SHOX gene mutations in idiopathic short stature (ISS) has been estimated.Approximately 2-17% of short-stature children are thought to be affected. 6The SHOX deficiency was more commonly found in females than in males, as SHOX(X) deletions were more frequent in females than SHOX(Y) deletions in males.With ISS or FSS, the SHOX mutation is a more common cause of short stature. 7SHOX interacts with various genes, such as those involved in retinoic acid signaling, which inhibits SHOX expression in the most proximal region of the limb bud. 8SHOX expression is reduced by FGFs. 8BMPs likewise lead to a decrease in SHOX expression. 8The negative regulation of SHOX by HOXA9 was observed in chMM. 9Expression dynamics are closely linked to mutations in the HOX or SHOX2 genes (Fig. 1). 10

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