Pituitary hypoplasia and growth hormone deficiency in a patient with Coffin-Siris syndrome and severe short stature: case report and literature review
Abstract
Keywords
Full Text:
PDFReferences
Vasko A, Drivas TG, Schrier Vergano SA. Genotype-phenotype correlations in 208 individuals with coffin-siris syndrome. Genes (Basel). 2021;12(6):937
Lopez AJ, Wood MA. Role of nucleosome remodeling in neurodevelopmental and intellectual disability disorders. Front Behav Neurosci. 2015;9:100
Coffin GS, Siris E. Mental retardation with absent fifth fingernail and terminal phalanx. Am J Dis Child. 1970; 119:433–439.
Fleck BJ, Pandya A, Vanner L, Kerkering K, Bodurtha J. Coffin‐Siris syndrome: Review and presentation of new cases from a questionnaire study. Am J Med Genet. 2001; 99(1):1-7
Vergano SA, Sluijs PJ van der, Santen G. ARID1B-Related Disorder. 2019. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle: University of Washington, Seattle: 1993-2022.
Vasko A, Schrier Vergano SA. Language impairments in individuals with Coffin-Siris syndrome. Front Neurosci. 2022; 15: 802583.
Schrier SA, Bodurtha JN, Burton B, et al. The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases. Am J Med Genet A. 2012; 158A:1865–1876.
Baban A, Moresco L, Divizia MT, et al. Pituitary hypoplasia and growth hormone deficiency in Coffin-Siris syndrome. Am J Med Genet A. 2008; 146A:384–388.
Pascanu I, Pop R, Barbu CG, et al. Endocrine care development of synthetic growth charts for Romanian population. Acta Endocrinol. 2016; XII:309–318.
World Health Organisation. WHO Child growth standards: Height-for-age girls 2 to 5 years (percentiles).[https://cdn.who.int/media/docs/default-source/child-growth/child-growth-standards/indicators/length-height-for-age/hfa-girls-2-5-percentiles.pdf?sfvrsn=adc3b954_7]
Yau M, Rapaport R. Growth hormone stimulation testing: to test or not to test? That is one of the questions. Front Endocrinol (Lausanne). 2022; 0:1099.
Caputo M, Pigni S, Agosti E, et al. Regulation of GH and GH signaling by nutrients. Cells. 2021; 10(6):1376
Hawkes CP, Grimberg A, Dzata VE, De Leon DD. Adding glucagon stimulated GH testing to the diagnostic fast increases the detection of GH sufficient children. Horm Res Paediatr. 2016; 85(4):265-272.
Seaver LH, Irons M. ACMG practice guideline: Genetic evaluation of short stature. Genet Med. 2009;11:465.
Preda C, Ungureanu MC, Leustean L, Cristea C, Vulpoi C. Ethical issues related to the use of human growth hormone in idiopathic short stature. Revista Romana de Bioetica 2013; 11(4): 31-37.
Dauber A, Rosenfeld RG, Hirschhorn JN. Clinical Review: Genetic evaluation of short stature. J Clin Endocrinol Metab. 2014; 99:3080.
Alfert A, Moreno N, Kerl K. The BAF complex in development and disease. Epigenetics Chromatin 2019. 2019; 12:1–15.
Miyake N, Tsurusaki Y, Matsumoto N. Numerous BAF complex genes are mutated in Coffin-Siris syndrome. Am J Med Genet C Semin Med Genet. 2014; 166C:257–261.
Sim JCH, White SM, Lockhart PJ. ARID1B-mediated disorders: Mutations and possible mechanisms. Intractable Rare Dis Res. 2015;4:17–23
Yu Y, Yao RE, Wang L, et al. De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature. BMC Genomics. 2015; 16:1–10.
Wright CF, Fitzgerald TW, Jones WD, et al. Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. Lancet (London, England). 2015; 385:1305–1314.
Hoyer J, Ekici AB, Endele S, et al. Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability. Am J Hum Genet. 2012; 90(3):565-572.
van der Sluijs PJ, Jansen S, Vergano SA, et al. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome. Genet Med. 2019; 21(6):1295-1307.
Bögershausen N, Wollnik B. Mutational Landscapes and phenotypic spectrum of SWI/SNF-related intellectual disability disorders. Front Mol Neurosci. 2018; 11:252.
Machol K, Rousseau J, Ehresmann S, et al. Expanding the spectrum of BAF-related disorders: de novo variants in SMARCC2 cause a syndrome with intellectual disability and developmental delay. Am J Hum Genet. 2019; 104(1):164–178.
Zawerton A, Yao B, Yeager JP, et al. De novo SOX4 variants cause a neurodevelopmental disease associated with mild dysmorphism. Am J Hum Genet. 2019; 104(2):246-259.
Riley EP, Infante MA, Warren KR. Fetal alcohol spectrum disorders: an overview. Neuropsychol Rev. 2011; 21(2):73-80.
Vergano SS, Deardorff MA. Clinical features, diagnostic criteria, and management of Coffin-Siris syndrome. Am J Med Genet Part C Semin Med Genet. 2014; 166:252–256.
McCague EA, Lamichhane R, Holt N, Schrier Vergano SA. Growth charts for individuals with Coffin-Siris syndrome. Am J Med Genet Part A. 2020; 182:2253–2262.
DOI: http://dx.doi.org/10.22551/2022.36.0903.10216
Copyright (c) 2022 Stefana Catalina Bilha, Laura Teodoriu, Cristian Velicescu, Lavinia Caba
Archive of Clinical Cases is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
ISSN: 2360-6975