Thyroid function and morphology in subjects with microdeletion of chromosome 22q11 (del(22)(q11))

Stagi, Stefano; Lapi, Elisabetta; Gambineri, Eleonora; Salti, R; Genuardi, Maurizio; Colarusso, Gloria; Conti, C.; Jenuso, R; Chiarelli, Francesco; Azzari, Chiara; Martino, Maurizio de

doi:10.1111/j.1365-2265.2009.03736.x

Cited by 31 publications

(42 citation statements)

References 28 publications

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“…Thyroid hypoplasia in Tbx1-deficient mice is therefore likely to be due to a primary loss of vessel contact anatomically, which in turn might impact access to growth signals that promote bilateral expansion of the primordium along embryonic vessels at a later stage. This probably explains the increased risk of individuals with DGS to develop thyroid dysgenesis and overt hypothyroidism (Stagi et al, 2010), and provides a mechanistic understanding of the occasional clinical reports of thyroid displacement associated with abnormal routing of aortic branches (Konno and Kanaya, 1988;de Almeida et al, 2009). Thyroid bilobation defects have also been reported for mice deficient for Frs2a, which encodes a docking protein in the Fgf receptor signaling pathway that also diminishes growth of the mesenchyme surrounding the thyroid primordium (Kameda et al, 2009).…”

Section: Regulation Of Thyroid Size and Positioning: Roles For Mesodementioning

confidence: 99%

Development of the thyroid gland

2017

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Thyroid hormones are crucial for organismal development and homeostasis. In humans, untreated congenital hypothyroidism due to thyroid agenesis inevitably leads to cretinism, which comprises irreversible brain dysfunction and dwarfism. Elucidating how the thyroid gland -the only source of thyroid hormones in the bodydevelops is thus key for understanding and treating thyroid dysgenesis, and for generating thyroid cells in vitro that might be used for cell-based therapies. Here, we review the principal mechanisms involved in thyroid organogenesis and functional differentiation, highlighting how the thyroid forerunner evolved from the endostyle in protochordates to the endocrine gland found in vertebrates. New findings on the specification and fate decisions of thyroid progenitors, and the morphogenesis of precursor cells into hormone-producing follicular units, are also discussed.

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Section: Regulation Of Thyroid Size and Positioning: Roles For Mesodementioning

confidence: 99%

Development of the thyroid gland

2017

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“…Tiroidi hipoplazili hastaların %71'inde eşlik eden konjenital kalp hastalığı bulunmuş, normal tiroid volümlü hastaların %31'inde kalp hastalığı gösterilmiştir. Bunu T-box 1 geni (TBX1) ile açıklayabileceklerini belitmişlerdir (32). DiGeorge sendromlu hastalarda hem tiroid fonksiyonları hem de morfolojisi sistematik olarak taranmalı, böylece tiroid hastalıklarının gözden kaçması engellenmelidir.…”

Section: Tiroid Hastalıklarıunclassified

“…ITP başta olmak üzere, çölyak hastalığı, otoimmün tiroidit, otoimmün hemolitik anemi ve romatoid artrit gibi tüm otoimmün hastalıklar belirgin olarak artmıştır (32). Otoimmün hastalıklara yatkınlığın altta yatan nedeni net değildir.…”

Section: İmmünolojik Bulgularunclassified

DiGeorge Syndrome

Göktürk¹,

Reisli²

2016

Asthma Allergy Immunol

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ÖZDiGeorge sendromu (DGS), nöral krest gelişim ve migrasyon defektine bağlı oluşan en sık görülen mikrodelesyon sendromudur. Tipik delesyon bölgesinde 35'ten fazla gen bulunması nedeniyle fenotip oldukça değişkendir. Ancak bu hasta grubundaki genotipfenotip korelasyonu oldukça zayıftır. Fasiyal dismorfizm, mentalmotor gelişim basamaklarında gecikme ve makrotrombositopenisi olan her çocuk DGS'nun diğer bulguları açısından sorgulanmalı, gerekirse tetkik edilmelidir. Tüm bulguların birarada olması gerekmediği akılda tutulmalıdır. Tanı alan hastaların hayatlarının değişik evrelerinde değişik problemlerle karşılaşacağı bilinmeli, hasta ve ailesine yeterli genetik danışmanlık verilmelidir. Bu derlemede, sık rastlanan bir delesyon sendromu olduğu halde tanısının çok kolay atlandığı ve tanı konduktan sonra da takipte zorlukların çekildiği DGS ile ilgili ayrıntılı bilgi vermek ve farkındalığı artırmak amaçlanmıştır. ABSTRACTDiGeorge syndrome, which is caused by abnormal development and migration of neural crest cells, is the most common microdeletion syndrome. The phenotype is variable due to the existence of more than 35 genes in the typical deletion region. However, the genotypephenotype correlation is very weak in this patient group. Every patient with facial dysmorphism, delay in developmental milestones and macrothrombocytopenia should be questioned for the other specific findings of DGS, and tested if needed. All findings do not have to be together to make the diagnosis. It should be known that patients experience different problems at different stages of their lives, and genetic counseling should be provided to the patients and their families. Our aim in this review was to provide detailed information and raise awareness about DGS as it is common but rarely diagnosed, and presents many difficulties during follow-up. GİRİŞDaha önce velokardiyofasiyal sendrom (VCFS=Shprintzen sendromu), DiGeorge sendromu (DGS), CHARGE sendromu (kolobom, kalp anomalisi, koanal atrezi, retardasyon, genital ve kulak anomalisi), Optiz G/BBB sendromu ve Cayler kardiyofasial sendromu, konotrunkal anomali yüz (Takao) sendromu ve kedi gözü sendromu (cat-eye syndrome) gibi birçok isimle adlandırılmış olan sendromların, günümüzde yapılabilen genetik çalışmalar sayesinde aslında aynı genetik temele sahip olduğu bulunmuştur. Tüm bu sendromlar 22q11.2 bölgesindeki heterozigot bir mikrodelesyon kaynaklı olduğu için '22q11.2 delesyon sendromu' adı altında toplanmıştır (1). Ancak hastaların yaklaşık %5-10'unda 10p13 delesyonu saptanması nedeniyle bu terim her zaman sendromun tam karşılığı olmamaktadır (2).

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“…There have been only 4 cases (including this case) of 22q11.2 microduplication with thyroid abnormalities in the literature to date. The incidence applies about 4% of 22q11.2 microduplication compared with 26.6-46.6% of 22q11.2 microdeletion [7]. …”

Section: Discussionmentioning

confidence: 99%

22q11.2 Microduplication with Thyroid Hemiagenesis

Kim

Yoo

et al. 2013

Horm Res Paediatr

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Background: Chromosome 22q11.2 microduplications are extremely rarely detected; in comparison, the deletion of same region, known as the DiGeorge/velocardiofacial syndrome, occurs more frequently. Thyroid anomalies commonly occur in patients with 22q11.2 deletion syndrome, however few reports of thyroid anomalies associated with 22q11.2 microduplication have been published thus far. Case Report: We present a case of a male infant who was prenatally diagnosed with 22q11.2 microduplication and was found to have congenital hypothyroidism due to thyroid hemiagenesis after birth. Moreover, the baby had bilateral hearing impairment, bilateral cryptorchidism, and a rotated penis. At the age of 2 years, the infant was euthyroid with levothyroxine replacement, but he showed significant developmental delay. Conclusions: To our knowledge, this is the first case of congenital hypothyroidism with thyroid hemiagenesis in a patient showing 22q11.2 microduplication. Thyroid dysgenesis could be an additional clinical feature shared by the 22q11.2 microduplication and deletion syndrome, suggesting that the duplication and deletion of a gene may result in a common phenotype. Thyroid dysgenesis should be considered in the evaluation and management of patients with this genomic disorder.

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Thyroid function and morphology in subjects with microdeletion of chromosome 22q11 (del(22)(q11))

Cited by 31 publications

References 28 publications

Development of the thyroid gland

Development of the thyroid gland

DiGeorge Syndrome

22q11.2 Microduplication with Thyroid Hemiagenesis

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