A rare association of central hypothyroidism and adrenal insufficiency in a boy with Williams-Beuren syndrome

Dayal, Devi; Giri, Dinesh; Senniappan, Senthil

doi:10.6065/apem.2017.22.1.65

Cited by 7 publications

(6 citation statements)

References 16 publications

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“…In the study of Amenta et al, comprising 50 patients with WS, hyperthyroidism occurred in one case ( 152 ). Interestingly, central hypothyroidism and secondary adrenal insufficiency were most recently reported in a 10 month-old boy with WS ( 165 ) ( Table 1 ).…”

Section: Williams Syndromementioning

confidence: 87%

Autoimmune Thyroid Disease in Specific Genetic Syndromes in Childhood and Adolescence

Kyritsi

Kanaka‐Gantenbein

2020

Front. Endocrinol.

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Autoimmune thyroid disease (ATD) is the most frequent cause of acquired thyroid dysfunction, most commonly presenting either as Hashimoto's thyroiditis or Graves' Disease. Hashimoto's thyroiditis is characterized by the presence of thyroid-specific autoantibodies, more commonly anti-thyroperoxidase antibodies in the serum and the typical inhomogeneous echostructure of the thyroid on a thyroid ultrasound examination. Hashimoto's thyroiditis can for a long time be accompanied by normal thyroid function and hypothyroidism can only progressively be established. Graves' disease is much less frequent in childhood and adolescence and presents with overt hyperthyroidism. After the onset of puberty, ATD affects females with a higher incidence than males, while during the prepubertal period there is not such a clear preponderance of affected females. ATD can occur either isolated or in the context of other autoimmune disorders, such as type 1 Diabetes mellitus (T1D), celiac disease, alopecia areata, vitiligo, etc. Especially at the pediatric age, a higher incidence of ATD is also observed in the context of specific genetic syndromes, such as trisomy 21 (Down syndrome), Klinefelter syndrome, Turner syndrome, or 22q11.2 deletion syndrome. Nevertheless, although thyroid dysfunction may also be observed in other genetic syndromes, such as Prader-Willi or Williams syndrome, the thyroid dysfunction in these syndromes is not the result of thyroid autoimmunity. Interestingly, there is emerging evidence supporting a possible link between autoimmunity and RASopathies. In this review article the incidence, as well as the clinical manifestation and accompanied pathologies of ATD in specific genetic syndromes will be presented and regular follow-up for the early identification of the disorder will be proposed.

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Section: Williams Syndromementioning

confidence: 87%

Autoimmune Thyroid Disease in Specific Genetic Syndromes in Childhood and Adolescence

Kyritsi

Kanaka‐Gantenbein

2020

Front. Endocrinol.

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“…This effect on the cortisol response is not unexpected if one considers that the output of cortisol involves the amygdala, the prefrontal cortex, and the hippocampus, all of them areas implicated in situations of fear and social stress (see Martens et al, 2008 ; Dedovic et al, 2009 ). Occasional adrenal insufficiency has been reported as well in children with WS ( Dayal et al, 2017 ).…”

Section: Domestic Features In Wsmentioning

confidence: 98%

Williams Syndrome, Human Self-Domestication, and Language Evolution

Niego

Benítez‐Burraco

2019

Front. Psychol.

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Language evolution resulted from changes in our biology, behavior, and culture. One source of these changes might be human self-domestication. Williams syndrome (WS) is a clinical condition with a clearly defined genetic basis which results in a distinctive behavioral and cognitive profile, including enhanced sociability. In this paper we show evidence that the WS phenotype can be satisfactorily construed as a hyper-domesticated human phenotype, plausibly resulting from the effect of the WS hemideletion on selected candidates for domestication and neural crest (NC) function. Specifically, we show that genes involved in animal domestication and NC development and function are significantly dysregulated in the blood of subjects with WS. We also discuss the consequences of this link between domestication and WS for our current understanding of language evolution.

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“…WBS occurs in 1 in 7,500–20,000 births 9 , 10 and is caused by the hemizygous microdeletion of approximately 26 to 28 genes on chromosome 7q11.23, which includes the elastin gene, resulting in less than 50% of normal elastin expression. 11 , 12 The condition is associated with connective tissue abnormalities and cardiovascular diseases, specifically SVAS and supravalvular pulmonary stenosis.…”

Section: Introductionmentioning

confidence: 99%

De Novo Synthesis of Elastin by Exogenous Delivery of Synthetic Modified mRNA into Skin and Elastin-Deficient Cells

Lescan

Perl

Golombek

et al. 2018

Molecular Therapy - Nucleic Acids

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Elastin is one of the most important and abundant extracellular matrix (ECM) proteins that provide elasticity and resilience to tissues and organs, including vascular walls, ligaments, skin, and lung. Besides hereditary diseases, such as Williams-Beuren syndrome (WBS), which results in reduced elastin synthesis, injuries, aging, or acquired diseases can lead to the degradation of existing elastin fibers. Thus, the de novo synthesis of elastin is required in several medical conditions to restore the elasticity of affected tissues. Here, we applied synthetic modified mRNA encoding tropoelastin (TE) for the de novo synthesis of elastin and determined the mRNA-mediated elastin synthesis in cells, as well as ex vivo in porcine skin. EA.hy926 cells, human fibroblasts, and mesenchymal stem cells (MSCs) isolated from a patient with WBS were transfected with 2.5 μg TE mRNA. After 24 hr, the production of elastin was analyzed by Fastin assay and dot blot analyses. Compared with untreated cells, significantly enhanced elastin amounts were detected in TE mRNA transfected cells. The delivered synthetic TE mRNA was even able to significantly increase the elastin production in elastin-deficient MSCs. In porcine skin, approximately 20% higher elastin amount was detected after the intradermal delivery of synthetic mRNA by microinjection. In this study, we demonstrated the successful applicability of synthetic TE encoding mRNA to produce elastin in elastin-deficient cells as well as in skin. Thus, this auspicious mRNA-based integration-free method has a huge potential in the field of regenerative medicine to induce de novo elastin synthesis, e.g., in skin, blood vessels, or alveoli.

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A rare association of central hypothyroidism and adrenal insufficiency in a boy with Williams-Beuren syndrome

Cited by 7 publications

References 16 publications

Autoimmune Thyroid Disease in Specific Genetic Syndromes in Childhood and Adolescence

Autoimmune Thyroid Disease in Specific Genetic Syndromes in Childhood and Adolescence

Williams Syndrome, Human Self-Domestication, and Language Evolution

De Novo Synthesis of Elastin by Exogenous Delivery of Synthetic Modified mRNA into Skin and Elastin-Deficient Cells

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