Graves' Disease in a Down's Syndrome Patient

Bhat, Mohd Shafi; Saba, Sameena; Ahmed, Irfan; Kamili, MA; Khan, Shaukat

doi:10.1515/jpem.2010.185

Cited by 5 publications

(5 citation statements)

References 9 publications

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“…From the limited data available from India it appears that the patients of DS with hyperthyroidism from India are younger and do not show any gender predilection. [ 8 9 10 ] This observation is consistent with that of the largest published Italian and Spanish series. Considering the 1/449 to 2/700 incidence of DS among the live births the total burden of DS with thyroid dysfunction including hyperthyroidism is likely to be higher in India.…”

Section: Discussion and Review Of Literaturesupporting

confidence: 89%

“…Published literature from India is scanty and documents only four cases including this case report of hyperthyroidism in DS. [ 8 9 10 ] In a published Indian study of 300 children with DS from 2004 to 2014, 82 patients were found to have abnormal thyroid hormone profiles with 76 patients having subclinical hypothyroidism and the rest overt hypothyroidism. [ 11 ] No patient in this review study was found to have hyperthyroidism.…”

Section: Discussion and Review Of Literaturementioning

confidence: 99%

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Radioactive iodine-131 as a definitive treatment in rare association of down syndrome with hyperthyroidism: A case report and review of literature

2017

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Down syndrome characterized by trisomy of chromosome 21 is frequently associated with thyroid dysfunctions due to underlying autoimmune disorders. Hypothyroidism is the commonest thyroid dysfunction and hyperthyroidism, usually Graves’ disease, is far less common. On literature review, we came across approximately 112 cases reported so far with the first such case report in 1946. The published data from India on hyperthyroidism in Down syndrome is of three case reports. We report one such patient, an adult male of 28 years who was administered Iodine-131 as a definitive treatment after 9-10 years of initial diagnosis.

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Section: Discussion and Review Of Literaturesupporting

confidence: 89%

Section: Discussion and Review Of Literaturementioning

confidence: 99%

Radioactive iodine-131 as a definitive treatment in rare association of down syndrome with hyperthyroidism: A case report and review of literature

2017

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“…The prevalence of GD has been reported at a higher rate in children with DS than in the general population ( 25 ), but overall, it is rare ( 4 ). Therefore, it is not remarkable that almost all data on GD in children with DS has been published as case series with case numbers ranging from 1 to 4 cases ( 8 , 9 , 10 , 11 ).…”

Section: Discussionmentioning

confidence: 99%

“…The clinical course and outcome of GD in children with DS have been investigated in a limited number of case series with case numbers ranging from one to four cases ( 8 , 9 , 10 , 11 ). Generally, GD in DS children is symptomatic, easy to diagnose, and often associated with other autoimmune diseases ( 12 , 13 ).…”

Section: Introductionmentioning

confidence: 99%

Graves’ disease in children with Down syndrome

Nurcan Cebeci,

Schempp,

Förtsch

et al. 2024

Endocrine Connections

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While subclinical or overt hypothyroidism are common in Down syndrome (DS); Graves´ disease (GD) is rare (ranges 0.6%-3%). We aimed to evaluate the clinical features, course, and treatment of GD in children with DS and compare them with those without DS. Among 161 children with GD, 13 (8 f, 5 m) had DS (8%). Data were collected retrospectively from patients’ medical records. The mean age at diagnosis was 10.6 ± 4.5 yrs., with a female-to-male ratio 1.6:1. The main symptoms were weight loss (n=6), increased irritability (n=3), and increased sweating (n=3). None had orbitopathy. Seven of 11 patients with a thyroid ultrasound at diagnosis had a goitre. On admission, all had TSH <0.01 mU/L (normal range (NR): 0.51-4.30), fT3, fT4 (mean±SD), and TRABs (median, range) were 22.2 ± 10.2 pmol/L (NR: 3.5-8.1), 50.2 ± 18.7 pmol/L (NR 12.6-20.9), and 17.0 (2.89-159.0) U/L (NR <1), respectively. Patients were treated either with methimazole (n=10) or carbimazole (n=3), a dose of 0.54 ± 0.36 mg/kg/day. The treatment was “block and replace” in 10 patients and “dose titration” in three patients, with a mean duration of 43.4±11.0 months. Of 13 patients, four are still receiving primary treatment, three are in remission, one patient had two medically treated recurrences, three underwent surgery without complications, and two patients were lost to follow-up. Our data show that the clinical course of GD in patients with DS was similar to those without DS and suggest that a prolonged medical therapy should be the preferred option.

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“…In DS, both HT and GD occur at a younger age than in the general population (between late childhood and early adolescence), without gender preference and frequently in association with other autoimmune disorders [75,77,96,97].…”

Section: Down Syndromementioning

confidence: 99%

Hashimoto’s Thyroiditis and Graves’ Disease in Genetic Syndromes in Pediatric Age

Casto

Pepe

Pomi

et al. 2021

Genes

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Autoimmune thyroid diseases (AITDs), including Hashimoto’s thyroiditis (HT) and Graves’ disease (GD), are the most common cause of acquired thyroid disorder during childhood and adolescence. Our purpose was to assess the main features of AITDs when they occur in association with genetic syndromes. We conducted a systematic review of the literature, covering the last 20 years, through MEDLINE via PubMed and EMBASE databases, in order to identify studies focused on the relation between AITDs and genetic syndromes in children and adolescents. From the 1654 references initially identified, 90 articles were selected for our final evaluation. Turner syndrome, Down syndrome, Klinefelter syndrome, neurofibromatosis type 1, Noonan syndrome, 22q11.2 deletion syndrome, Prader–Willi syndrome, Williams syndrome and 18q deletion syndrome were evaluated. Our analysis confirmed that AITDs show peculiar phenotypic patterns when they occur in association with some genetic disorders, especially chromosomopathies. To improve clinical practice and healthcare in children and adolescents with genetic syndromes, an accurate screening and monitoring of thyroid function and autoimmunity should be performed. Furthermore, maintaining adequate thyroid hormone levels is important to avoid aggravating growth and cognitive deficits that are not infrequently present in the syndromes analyzed.

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Graves' Disease in a Down's Syndrome Patient

Cited by 5 publications

References 9 publications

Radioactive iodine-131 as a definitive treatment in rare association of down syndrome with hyperthyroidism: A case report and review of literature

Radioactive iodine-131 as a definitive treatment in rare association of down syndrome with hyperthyroidism: A case report and review of literature

Graves’ disease in children with Down syndrome

Hashimoto’s Thyroiditis and Graves’ Disease in Genetic Syndromes in Pediatric Age

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