Branding of subjects affected with genetic syndromes of severe short stature in developing countries
- PMID: 32041755
- PMCID: PMC7021096
- DOI: 10.1136/bcr-2019-231737
Branding of subjects affected with genetic syndromes of severe short stature in developing countries
Abstract
In Ecuador, a developing South American country, subjects affected with genetic syndromes of severe short stature are commonly referred to as dwarfs or midgets. Furthermore, and because in earlier studies some patients had evidenced mental retardation, such abnormality is assumed to exist in all affected subjects. Herein, we present two discrete instances in which this type of branding occurs. The first is that of individuals with Laron syndrome who are still called 'dwarfs' and considered as having a degree of mental retardation despite evidence showing otherwise. A similar problem, that of a girl affected with a genetic syndrome of short stature, which might include mental retardation, is also discussed. Considering that stigmatising is a form of discrimination, it concerns us all. Hence, the use of derogatory terms such as midget, dwarf or cretin, that might unintentionally occur even when delivering the best and most devoted medical care, must be eliminated.
Keywords: endocrinology; ethics; genetics.
© BMJ Publishing Group Limited 2020. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.
Conflict of interest statement
Competing interests: None declared.
Similar articles
-
Brachmann-de Lange syndrome with normal IQ.Am J Med Genet. 1993 Nov 15;47(7):995-8. doi: 10.1002/ajmg.1320470711. Am J Med Genet. 1993. PMID: 8291543 Review.
-
[Brachmann-de Lange syndrome in 16 of our patients].Monatsschr Kinderheilkd. 1990 Feb;138(2):72-6. Monatsschr Kinderheilkd. 1990. PMID: 2320015 German.
-
Mild mental retardation with classic somatic phenotype in the Brachmann-de Lange syndrome.Am J Med Genet. 1993 Nov 15;47(7):992-4. doi: 10.1002/ajmg.1320470710. Am J Med Genet. 1993. PMID: 8291542
-
Successful Growth Hormone Therapy in Cornelia de Lange Syndrome.J Clin Res Pediatr Endocrinol. 2017 Dec 15;9(4):366-370. doi: 10.4274/jcrpe.4349. Epub 2017 Jun 7. J Clin Res Pediatr Endocrinol. 2017. PMID: 28588001 Free PMC article.
-
Compound heterozygosity for two GHR missense mutations in a patient affected by Laron Syndrome: a case report.Ital J Pediatr. 2017 Oct 12;43(1):94. doi: 10.1186/s13052-017-0411-7. Ital J Pediatr. 2017. PMID: 29025428 Free PMC article. Review.
Cited by
-
Emotional Deprivation in Children: Growth Faltering and Reversible Hypopituitarism.Front Endocrinol (Lausanne). 2020 Oct 7;11:596144. doi: 10.3389/fendo.2020.596144. eCollection 2020. Front Endocrinol (Lausanne). 2020. PMID: 33117295 Free PMC article. Review.
-
A Recurrent Mutation in Growth Hormone Receptor (GHR) Gene Underlying Laron-type Dwarfism in a Pakistani Family.Yale J Biol Med. 2023 Sep 29;96(3):313-325. doi: 10.59249/TCAA2040. eCollection 2023 Sep. Yale J Biol Med. 2023. PMID: 37780997 Free PMC article.
-
Challenges in the care of individuals with severe primary insulin-like growth factor-I deficiency (SPIGFD): an international, multi-stakeholder perspective.Orphanet J Rare Dis. 2023 Oct 7;18(1):312. doi: 10.1186/s13023-023-02928-7. Orphanet J Rare Dis. 2023. PMID: 37805563 Free PMC article. Review.
-
Human Growth and Growth Hormone: From Antiquity to the Recominant Age to the Future.Front Endocrinol (Lausanne). 2021 Jul 5;12:709936. doi: 10.3389/fendo.2021.709936. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 34290673 Free PMC article. Review.
-
Mitochondrial-Stem Cell Connection: Providing Additional Explanations for Understanding Cancer.Metabolites. 2024 Apr 17;14(4):229. doi: 10.3390/metabo14040229. Metabolites. 2024. PMID: 38668357 Free PMC article.
References
-
- Guevara-Aguirre J, Rosembloom AL, Fielder PJ, et al. . Growth hormone receptor deficiency in Ecuador: clinical and biochemical phenotype in two populations. J Clin Endocrinol Metab 1993;76:417–23. - PubMed
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources