DiGeorge Syndrome with Graves' Disease. A Case Report.

Kawamura, Takaaki; Nimura, Ikumi; Hanafusa, Miki; Fujikawa, Rumi; Okubo, Masamichi; Egusa, Genshi; Yamakido, Michio

doi:10.1507/endocrj.47.91

Cited by 23 publications

(19 citation statements)

References 21 publications

(3 reference statements)

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“…Graves’ disease has been reported to be associated with chromosome 22q11.2 microdeletion syndrome, indicating that the individuals with this syndrome have a predisposition to autoimmune diseases [13, 14]. We also observed 2 cases developing autoimmune thyroid disorders such as Hashimoto thyroiditis and Graves’ disease.…”

Section: Discussionsupporting

confidence: 54%

“…In previous studies, hypocalcemia, due to the abnormal parathyroid function, was reported to be the most common endocrine abnormality [7,8,9,10,11,12]. In addition, Graves’ disease is occasionally associated with this syndrome, in conjunction with the susceptibility to autoimmune diseases [13, 14]. The incidence of short stature associated with 22q11.2 microdeletion syndrome ranges from 39 to 67% [15], but no correlation has been found between growth hormone levels and this syndrome [8, 15].…”

Section: Introductionmentioning

confidence: 99%

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Endocrine Manifestations of Chromosome 22q11.2 Microdeletion Syndrome

et al. 2005

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Background: Endocrine abnormalities, including hypocalcemia, thyroid dysfunction, and short stature, are associated with chromosome 22q11.2 microdeletion syndrome. This study was undertaken to examine the frequencies and clinical features of endocrine abnormalities in patients with 22q11.2 microdeletion syndrome. Methods: We analyzed 61 patients with 22q11.2 microdeletion syndrome diagnosed based on the verification of microdeletion by fluorescent in situ hybridization (FISH) using a probe of the DiGeorge syndrome critical region (TUPLE1) at 22q11.2 and a control probe, ARSA at 22q13. Serum total calcium, phosphorus, and intact parathyroid hormone (PTH) levels were measured, thyroid function test was performed, and serum IGF-1 and IGFBP-3 levels were also estimated. Height and weight of patients were compared with individual chronological ages. Results: Hypocalcemia was found in 20 patients (32.8%), and overt hypoparathyroidism in 8 (13.1%). Two patients (3.3%) showed autoimmune thyroid diseases, 1 each with Graves’ disease and Hashimoto thyroiditis. Ten patients (16.4%) were below the third percentile in height, but the serum IGF-1 level was normal in 9 out of these 10 patients. Conclusion: Our findings show that patients with chromosome 22q11.2 microdeletion syndrome present with variable endocrine manifestations and variable clinical phenotypes. In addition to FISH analysis, careful endocrine evaluations are required in patients with this microdeletion syndrome, particularly for those with hypoparathyroidism or thyroid dysfunction.

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Section: Discussionsupporting

confidence: 54%

Section: Introductionmentioning

confidence: 99%

Endocrine Manifestations of Chromosome 22q11.2 Microdeletion Syndrome

et al. 2005

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“…The mechanism for the development of thyrotoxicosis in DiGeorge syndrome is unclear, but several reports have demonstrated the presence of thyroid antibodies, findings that indicate a likely autoimmune etiology (9,10 ). Paradoxically, these patients with a reduced immune function thus appear to develop likely autoimmune-mediated thyrotoxicosis.…”

Section: Discussionmentioning

confidence: 99%

Hypocalcemia following Treatment for Hyperthyroidism

Meek¹,

Kaplan²,

Pereira

et al. 2011

Clinical Chemistry

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CASEA 17-year-old female was referred to the endocrinology clinic after blood test results suggestive of hyperthyroidism. She had mild symptoms of thyrotoxicosis, including menstrual disturbance with intermittent palpitations and tremor. On examination, the patient was normotensive, tachycardic (100 beats/min), and of slim build with poor dentition. She had a small diffuse goiter without retrosternal extension or bruit. There was conjunctival injection but no evidence of lid lag or proptosis. Auscultation of the precordium revealed murmurs in systole and diastole consistent with mixed aortic valve disease.The only child of healthy nonconsanguineous parents, the patient had previously been well. Her medical history included mild learning difficulties, a bicuspid aortic valve, recurrent urinary tract infections, and severe constipation as a child that required a colostomy, which was later reversed. Apart from an osmotic laxative, she received no other regular medication. A recent echocardiogram had demonstrated a bicuspid aortic valve with good flow and minor regurgitation.Biochemically, the patient had an undetectable serum concentration of thyroid-stimulating hormone ( After daily treatment with 30 mg carbimazole and 25 mg atenolol, the fT4 concentration in the patient decreased as expected (fT4, 19.2 pmol/L; TSH, 0.03 mIU/L). Concomitantly, the patient developed asymptomatic hypocalcemia [calcium, 1.72 mmol/L (6.88 mg/dL)]. The total 25-hydroxyvitamin D concentration was 38 nmol/L (reference interval, 15-100 nmol/ L), and her serum magnesium concentration was 0.87 mmol/L (reference interval, 0.74 -1.00 mmol/L). Both were within their respective reference intervals. The serum phosphate concentration was 1.28 mmol/L (reference interval, 0.9 -1.35 mmol/L), and the albumin concentration was 48 g/L (reference interval, 35-50 g/L). The parathyroid hormone (PTH) concentration was also within the reference interval [4.8 pmol/L (4.8 ng/ L); reference interval, 1.6 -9.3 pmol/L] and thus inappropriately normal given the degree of hypocalcemia. A diagnosis of hypoparathyroidism was made, and the patient was treated with 0.5 g alfacalcidol daily. The calcium concentration briefly normalized (Table 1).After this improvement, the patient stopped complying with her carbimazole and alfacalcidol treatment regimen, and the results of thyroid function tests returned to near pretreatment concentrations [fT4, 58.4 pmol/L (4.5 ng/dL); TSH, Ͻ0.03 mIU/L; calcium, 2.34 mmol/L (9.36 ng/dL); Table 1]. With improved patient compliance, the fT4 results improved, approaching euthyroidism. The patient eventually achieved a normocalcemic state [fT4, 13.5 pmol/L (1.0 ng/dL); calcium, 2.35 mmol/L (9.4 mg/dL)]. More recently, compliance has been a concern with recurrent increased fT4 concentrations (Table 1).

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“…Other auto-immune diseases have been observed in patients with a 22q11 microdeletion (Table 1). Four cases of auto-immune thyroid disease (Graves disease) have been described [1,10,11]. Pinchas et al [17] observed in a 5-year-old girl with DGS, a liver disease with epitheliod granulomata, smooth muscle Study showed decreased lifespan and splenic sequestration antibodies and mononuclear cell infiltrate supporting the diagnosis of granulomatous hepatitis, of probable auto-immune origin.…”

Section: Discussionmentioning

confidence: 99%

“…Now, this concept is not sufficient to embrace all the phenotypic forms of the 22q11 microdeletion -the term ''22q11.2 deletion syndrome'' is now widely used [2,15,19]. A few observations of auto-immune disorders have been reported in patients with the 22q11 deletion [1,3,8,11,13,17,18]. To the best of our knowledge, six observations of auto-immune cytopenia have been reported in the literature [1,3,13,17].…”

Section: Introductionmentioning

confidence: 99%