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Short Stature Homeobox Deficiency

MedGen UID:: 856639
•Concept ID:: C3897045
•: Disease or Syndrome

Synonym:

SHOX Deficiency

Definition

A rare genetic deficiency characterized by mutations in the SHOX gene and reduced expression or function of the SHOX protein. It results in the disruption of normal bone development and growth starting before birth. It manifests with skeletal abnormalities and short stature. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVShort Stature Homeobox Deficiency

Pathological Conditions, Signs and Symptoms
- Pathological process
  - Disease
    - Hereditary disease
      - Short Stature Homeobox Deficiency

Professional guidelines

PubMed

Pediatric growth hormone treatment in Italy: A systematic review of epidemiology, quality of life, treatment adherence, and economic impact.

Orso M, Polistena B, Granato S, Novelli G, Di Virgilio R, La Torre D, d'Angela D, Spandonaro F
PLoS One 2022;17(2):e0264403. Epub 2022 Feb 25 doi: 10.1371/journal.pone.0264403. PMID: 35213607 Free PMC Article

Short stature due to SHOX deficiency: genotype, phenotype, and therapy.

Binder G
Horm Res Paediatr 2011 Feb;75(2):81-9. Epub 2011 Feb 4 doi: 10.1159/000324105. PMID: 21325865

Pharmacogenomics and pharmacoproteomics in the evaluation and management of short stature.

Rosenfeld RG
Eur J Endocrinol 2007 Aug;157 Suppl 1:S27-31. doi: 10.1530/EJE-07-0186. PMID: 17785693

See all (14)

Recent clinical studies

Etiology

Clinical and Genetic Characteristics of 23 Korean Patients with Haploinsufficiency of the Short-stature Homeobox-containing Gene.

Lee JS, Kim HY, Lee YA, Lee SY, Cho TJ, Ko JM
Exp Clin Endocrinol Diabetes 2021 Aug;129(8):611-620. Epub 2020 Sep 15 doi: 10.1055/a-1247-4863. PMID: 32932528

Effects of Growth Hormone on Bone.

Tritos NA, Klibanski A
Prog Mol Biol Transl Sci 2016;138:193-211. Epub 2016 Jan 6 doi: 10.1016/bs.pmbts.2015.10.008. PMID: 26940392

Clinical and humanistic aspects of growth hormone deficiency and growth-related disorders.

Rogol AD
Am J Manag Care 2011 Dec;17 Suppl 18:eS4-10. PMID: 22590765

Growth hormone therapy in children and adolescents: pharmacokinetic/pharmacodynamic considerations and emerging indications.

Denson LA
Expert Opin Drug Metab Toxicol 2008 Dec;4(12):1569-80. doi: 10.1517/17425250802465347. PMID: 19040332

Pharmacogenomics and pharmacoproteomics in the evaluation and management of short stature.

Rosenfeld RG
Eur J Endocrinol 2007 Aug;157 Suppl 1:S27-31. doi: 10.1530/EJE-07-0186. PMID: 17785693

See all (34)

Diagnosis

Growth and growth hormone: An overview.

Teran E, Chesner J, Rapaport R
Growth Horm IGF Res 2016 Jun;28:3-5. Epub 2016 Feb 23 doi: 10.1016/j.ghir.2016.02.004. PMID: 26936284

Update in growth hormone therapy of children.

Collett-Solberg PF
J Clin Endocrinol Metab 2011 Mar;96(3):573-9. doi: 10.1210/jc.2010-1131. PMID: 21378219

Short stature due to SHOX deficiency: genotype, phenotype, and therapy.

Binder G
Horm Res Paediatr 2011 Feb;75(2):81-9. Epub 2011 Feb 4 doi: 10.1159/000324105. PMID: 21325865

Epidemiology of SHOX deficiency.

Nicolosi A, Caruso-Nicoletti M
J Endocrinol Invest 2010 Jun;33(6 Suppl):7-10. PMID: 21057178

Pharmacogenomics and pharmacoproteomics in the evaluation and management of short stature.

Rosenfeld RG
Eur J Endocrinol 2007 Aug;157 Suppl 1:S27-31. doi: 10.1530/EJE-07-0186. PMID: 17785693

See all (35)

Therapy

Pediatric growth hormone treatment in Italy: A systematic review of epidemiology, quality of life, treatment adherence, and economic impact.

Growth and growth hormone: An overview.

Teran E, Chesner J, Rapaport R
Growth Horm IGF Res 2016 Jun;28:3-5. Epub 2016 Feb 23 doi: 10.1016/j.ghir.2016.02.004. PMID: 26936284

Clinical and humanistic aspects of growth hormone deficiency and growth-related disorders.

Rogol AD
Am J Manag Care 2011 Dec;17 Suppl 18:eS4-10. PMID: 22590765

Short stature due to SHOX deficiency: genotype, phenotype, and therapy.

Binder G
Horm Res Paediatr 2011 Feb;75(2):81-9. Epub 2011 Feb 4 doi: 10.1159/000324105. PMID: 21325865

Growth hormone therapy in children and adolescents: pharmacokinetic/pharmacodynamic considerations and emerging indications.

Denson LA
Expert Opin Drug Metab Toxicol 2008 Dec;4(12):1569-80. doi: 10.1517/17425250802465347. PMID: 19040332

See all (36)

Prognosis

Adult Height of Patients with SHOX Haploinsufficiency with or without GH Therapy: A Real-World Single-Center Study.

Dantas NCB, Funari MFA, Vasques GA, Andrade NLM, Rezende RC, Brito V, Scalco RC, Arnhold IJP, Mendonca BB, Jorge AAL
Horm Res Paediatr 2022;95(3):264-274. Epub 2022 Apr 7 doi: 10.1159/000524374. PMID: 35390795

Pediatric growth hormone treatment in Italy: A systematic review of epidemiology, quality of life, treatment adherence, and economic impact.

Short stature before puberty: which children should be screened for SHOX deficiency?

Wolters B, Lass N, Wunsch R, Böckmann B, Austrup F, Reinehr T
Horm Res Paediatr 2013;80(4):273-80. Epub 2013 Sep 18 doi: 10.1159/000354989. PMID: 24051572

Pharmacogenomics and pharmacoproteomics in the evaluation and management of short stature.

Rosenfeld RG
Eur J Endocrinol 2007 Aug;157 Suppl 1:S27-31. doi: 10.1530/EJE-07-0186. PMID: 17785693

Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency.

Rappold G, Blum WF, Shavrikova EP, Crowe BJ, Roeth R, Quigley CA, Ross JL, Niesler B
J Med Genet 2007 May;44(5):306-13. Epub 2006 Dec 20 doi: 10.1136/jmg.2006.046581. PMID: 17182655 Free PMC Article

See all (14)

Clinical prediction guides

Clinical and Genetic Characteristics of 23 Korean Patients with Haploinsufficiency of the Short-stature Homeobox-containing Gene.

Lee JS, Kim HY, Lee YA, Lee SY, Cho TJ, Ko JM
Exp Clin Endocrinol Diabetes 2021 Aug;129(8):611-620. Epub 2020 Sep 15 doi: 10.1055/a-1247-4863. PMID: 32932528

Effects of Growth Hormone on Bone.

Tritos NA, Klibanski A
Prog Mol Biol Transl Sci 2016;138:193-211. Epub 2016 Jan 6 doi: 10.1016/bs.pmbts.2015.10.008. PMID: 26940392

Short stature before puberty: which children should be screened for SHOX deficiency?

Wolters B, Lass N, Wunsch R, Böckmann B, Austrup F, Reinehr T
Horm Res Paediatr 2013;80(4):273-80. Epub 2013 Sep 18 doi: 10.1159/000354989. PMID: 24051572

Pharmacogenomics and pharmacoproteomics in the evaluation and management of short stature.

Rosenfeld RG
Eur J Endocrinol 2007 Aug;157 Suppl 1:S27-31. doi: 10.1530/EJE-07-0186. PMID: 17785693

Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency.

Rappold G, Blum WF, Shavrikova EP, Crowe BJ, Roeth R, Quigley CA, Ross JL, Niesler B
J Med Genet 2007 May;44(5):306-13. Epub 2006 Dec 20 doi: 10.1136/jmg.2006.046581. PMID: 17182655 Free PMC Article

See all (41)

Recent systematic reviews

Pediatric growth hormone treatment in Italy: A systematic review of epidemiology, quality of life, treatment adherence, and economic impact.

Recombinant human growth hormone for the treatment of growth disorders in children: a systematic review and economic evaluation.

Takeda A, Cooper K, Bird A, Baxter L, Frampton GK, Gospodarevskaya E, Welch K, Bryant J
Health Technol Assess 2010 Sep;14(42):1-209, iii-iv. doi: 10.3310/hta14420. PMID: 20849734

See all (2)

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Short Stature Homeobox Deficiency

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Practice guidelines

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