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Short stature and advanced bone age

MedGen UID:
1625310
•Concept ID:
C4540541
•
Finding
Synonym: SHORT STATURE AND ADVANCED BONE AGE
 
OMIM®: 155760

Professional guidelines

PubMed

Aggrecanopathies highlight the need for genetic evaluation of ISS children.
Nilsson O
Eur J Endocrinol 2020 Aug;183(2):C9-C10. doi: 10.1530/EJE-20-0420. PMID: 32413843

Recent clinical studies

Etiology

Adding Letrozole to Growth Hormone and Gonadotropin-Releasing Hormone Analog Increases Height in Girls With Short Stature: A Hospital Record-Based Retrospective Study.
Li C, Wang X, Nie M, Mao J, Wu X
Endocr Pract 2024 Jul;30(7):639-646. Epub 2024 May 7 doi: 10.1016/j.eprac.2024.04.011. PMID: 38723894
Dual diagnosis of osteogenesis imperfecta (OI) and short stature and advanced bone age with or without early-onset osteoarthritis and/or osteochondritis dissecans (SSOAOD) reveals a cumulative effect on stature caused by mutations in COL1A1 and ACAN genes.
Ye X, Fang D, He Y, Yan H, Qiu W, Sun Y
Eur J Med Genet 2020 Dec;63(12):104074. Epub 2020 Sep 24 doi: 10.1016/j.ejmg.2020.104074. PMID: 32980524

Diagnosis

Dual diagnosis of osteogenesis imperfecta (OI) and short stature and advanced bone age with or without early-onset osteoarthritis and/or osteochondritis dissecans (SSOAOD) reveals a cumulative effect on stature caused by mutations in COL1A1 and ACAN genes.
Ye X, Fang D, He Y, Yan H, Qiu W, Sun Y
Eur J Med Genet 2020 Dec;63(12):104074. Epub 2020 Sep 24 doi: 10.1016/j.ejmg.2020.104074. PMID: 32980524
Aggrecanopathies highlight the need for genetic evaluation of ISS children.
Nilsson O
Eur J Endocrinol 2020 Aug;183(2):C9-C10. doi: 10.1530/EJE-20-0420. PMID: 32413843
Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene.
Quintos JB, Guo MH, Dauber A
J Pediatr Endocrinol Metab 2015 Jul;28(7-8):927-32. doi: 10.1515/jpem-2014-0450. PMID: 25741789Free PMC Article

Therapy

Adding Letrozole to Growth Hormone and Gonadotropin-Releasing Hormone Analog Increases Height in Girls With Short Stature: A Hospital Record-Based Retrospective Study.
Li C, Wang X, Nie M, Mao J, Wu X
Endocr Pract 2024 Jul;30(7):639-646. Epub 2024 May 7 doi: 10.1016/j.eprac.2024.04.011. PMID: 38723894

Prognosis

Adding Letrozole to Growth Hormone and Gonadotropin-Releasing Hormone Analog Increases Height in Girls With Short Stature: A Hospital Record-Based Retrospective Study.
Li C, Wang X, Nie M, Mao J, Wu X
Endocr Pract 2024 Jul;30(7):639-646. Epub 2024 May 7 doi: 10.1016/j.eprac.2024.04.011. PMID: 38723894
Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene.
Quintos JB, Guo MH, Dauber A
J Pediatr Endocrinol Metab 2015 Jul;28(7-8):927-32. doi: 10.1515/jpem-2014-0450. PMID: 25741789Free PMC Article

Clinical prediction guides

Adding Letrozole to Growth Hormone and Gonadotropin-Releasing Hormone Analog Increases Height in Girls With Short Stature: A Hospital Record-Based Retrospective Study.
Li C, Wang X, Nie M, Mao J, Wu X
Endocr Pract 2024 Jul;30(7):639-646. Epub 2024 May 7 doi: 10.1016/j.eprac.2024.04.011. PMID: 38723894
Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene.
Quintos JB, Guo MH, Dauber A
J Pediatr Endocrinol Metab 2015 Jul;28(7-8):927-32. doi: 10.1515/jpem-2014-0450. PMID: 25741789Free PMC Article

Supplemental Content

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