Related Experiment Video

Updated: Jun 6, 2026

Quantitative PCR-based Assay to Measure Sonic Hedgehog Signaling in Cellular Model of Ciliogenesis
07:26

Quantitative PCR-based Assay to Measure Sonic Hedgehog Signaling in Cellular Model of Ciliogenesis

Published on: January 31, 2025

The SHOX gene: a new indication for GH treatment

A Cicognani1, P Pirazzoli, A Nicoletti

  • 1Department of Pediatrics, S Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy. alessandro.cicognani@unibo.it

Journal of Endocrinological Investigation
|November 9, 2010
PubMed

Insights

Short stature homeobox-containing (SHOX) gene defects occur in at least 1 in 2,000 children, a rate higher than classic GH deficiency. Improved genetic analysis will likely increase this prevalence, with growth hormone treatment showing efficacy.

Area of Science:

  • Genetics
  • Pediatrics
  • Endocrinology

Background:

  • Mutations in the Short stature homeobox-containing (SHOX) gene causing haploinsufficiency are linked to idiopathic short stature.
  • The actual prevalence of SHOX gene defects (SHOX-D) in children with growth failure remains debated.
  • Existing data suggest SHOX-D occurs in at least 1 in 2,000 children, exceeding rates for GH deficiency and Turner syndrome.

Purpose of the Study:

  • To evaluate the prevalence of SHOX gene defects in pediatric growth failure.
  • To highlight the increasing detection of SHOX-D with advanced genetic analysis.
  • To review the efficacy of growth hormone (GH) treatment for SHOX-D.

Main Methods:

  • Literature review and data synthesis on SHOX gene defect prevalence.
  • Analysis of current genetic diagnostic capabilities for SHOX mutations and deletions.
  • Evaluation of published studies on GH treatment outcomes in patients with SHOX-D.

Main Results:

  • SHOX-D prevalence is estimated at a minimum of 1 in 2,000 children.
  • The prevalence of SHOX-D is projected to rise with enhanced genetic testing, including point mutations and deletions.
  • Growth hormone treatment demonstrates efficacy in SHOX-D patients, yielding results comparable to those in Turner syndrome.

Conclusions:

  • SHOX gene defects represent a significant, potentially underestimated cause of pediatric growth failure.
  • Improved genetic analysis will likely reveal a higher prevalence of SHOX-D.
  • GH therapy is an effective treatment option for children with SHOX gene defects.

More Related Videos

Performing Human Skeletal Muscle Xenografts in Immunodeficient Mice07:48

Performing Human Skeletal Muscle Xenografts in Immunodeficient Mice

Published on: September 16, 2019

Related Concept Videos

Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
Gene Therapy00:59

Gene Therapy

Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be inserted. The...
Gene Therapy00:59

Gene Therapy

Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be inserted. The...
Hedgehog Signaling Pathway02:33

Hedgehog Signaling Pathway

The Hedgehog gene (Hh) was first discovered due to its control of the growth of disorganized, hair-like bristles phenotype in Drosophila, much like hedgehog spines. Hh plays a crucial role in the development of organs and the maintenance of homeostasis in both invertebrates and vertebrates. However, while Drosophila has only one Hh protein, mammals have multiple functional Hedgehog proteins - Sonic (Shh), Desert (Dhh), and Indian Hedgehog (Ihh). All of these homologous proteins have adapted to...
TGF - β Signaling Pathway01:16

TGF - β Signaling Pathway

The TGF-β signaling pathway regulates cell growth, differentiation, adhesion, motility, and development. TGF-β ligands that induce TGF-β signaling are synthesized in their latent form. Several proteases or cell surface receptors such as integrins act upon the latent form, releasing the active ligand. There are three types of mammalian TGF-βs: (TGF-β1, TGF-β2, and TGF-β3) that bind as homodimers or heterodimers to TGF-β receptors. The TGF-β receptors are of three kinds RI, RII, and RIII. The RI...
Treatment for Pulmonary Arterial Hypertension: Endothelin Receptor Antagonists01:18

Treatment for Pulmonary Arterial Hypertension: Endothelin Receptor Antagonists

Endothelins (ETs) are potent vasoactive peptides critical in the human body's various physiological and pathological processes. One of the most promising therapeutic strategies for treating pulmonary arterial hypertension (PAH) involves counteracting the effects of these endothelins using a class of drugs known as endothelin receptor antagonists.
ETs are synthesized through a complex sequence of enzymatic steps, primarily involving an enzyme referred to as endothelin-converting enzyme (ECE). Of...