Clinical characteristics of children with hypoparathyroidism due to 22q11.2 microdeletion

Adachi, Masanori; Tachibana, Kunihide; Masuno, Mitsuo; Makita, Yoshio; Maesaka, Hatae; Okada, Takashige; Hizukuri, K; Imaizumi, Kiyoshi; Kuroki, Yoshikazu; Kurahashi, Hiroki; Suwa, Satoru

doi:10.1007/s004310050762

Cited by 56 publications

(33 citation statements)

References 18 publications

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“…On the other hand, in a study by Adachi et al [1], a 22q11 deletion was found to be the most common aetiology of this otherwise rare disorder in children.…”

Section: Discussionmentioning

confidence: 94%

Presenting phenotype in 100 children with the 22q11 deletion syndrome

Óskarsdóttir¹,

et al. 2004

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“…On the other hand, in a study by Adachi et al [1], a 22q11 deletion was found to be the most common aetiology of this otherwise rare disorder in children.…”

Section: Discussionmentioning

confidence: 94%

Presenting phenotype in 100 children with the 22q11 deletion syndrome

Óskarsdóttir¹,

et al. 2004

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“…Since the incidence of autoimmune thyroid disorders was higher among our patient group (3.3%) than that of the general population with an earlier age at onset, it is supposed that the concurrence of autoimmune thyroid disorders with the syndrome was not a chance association in these patients. Other autoimmune diseases, including autoimmune hemolytic anemia, idiopathic thrombocytopenic purpura, type 1 diabetes mellitus, and juvenile rheumatoid arthritis, may also be associated with 22q11.2 microdeletion syndrome [12, 22, 23]. Approximately 9% of all patients with the deletion are known to be associated with autoimmune diseases [24].…”

Section: Discussionmentioning

confidence: 99%

“…In particular, the endocrine manifestations of the 22q11.2 microdeletion syndrome are characterized by hypoparathyroidism, thyroid dysfunction, and short stature [7]. 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].…”

Section: Introductionmentioning

confidence: 99%

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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“…In some patients permanent hypoparathyroidism develops (4)(5)(6). There is limited knowledge about the pathogenesis and natural course of hypoparathyroidism, but a developmental defect may explain why the parathyroid glands are small and have limited capacity of parathyroid hormone (PTH) production (7).…”

Section: Introductionmentioning

confidence: 99%

Hypoparathyroidism and autoimmunity in the 22q11.2 deletion syndrome

Lima

Abrahamsen

Wolff

et al. 2011

European Journal of Endocrinology

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Objective: To characterize the endocrine and autoimmune disturbances with emphasis on parathyroid dysfunction in patients with 22q11.2 deletion syndrome (22q11.2 DS). Design: In this nationwide survey; 59 patients (age 1-54 years) out of 86 invited with a 22q11.2 DS were recruited through all the genetic institutes in Norway. Methods: Data was collected from blood tests, medical records, a physical examination and a semistructured interview. We registered autoimmune diseases and measured autoantibodies, hormone levels and HLA types. Results: Twenty-eight (47%) patients had hypoparathyroidism or a history of neonatal or transient hypocalcemia. Fifteen patients had neonatal hypocalcemia. Fourteen patients had permanent hypoparathyroidism including seven (54%) of those above age 15 years. A history of neonatal hypocalcemia did not predict later occurring hypoparathyroidism. Parathyroid hormone levels were generally low indicating a low reserve capacity. Twenty-eight patients were positive for autoantibodies. Six (10%) persons had developed an autoimmune disease, and all were females (P!0.02). Hypoparathyroidism correlated with autoimmune diseases (P!0.05), however, no antibodies were detected against the parathyroid glands. Conclusions: Hypoparathyroidism and autoimmunity occur frequently in the 22q11.2 DS. Neonatal hypocalcemia is not associated with later development of permanent hypoparathyroidism. Hypoparathyroidism may present at any age, also in adults, and warrants regular measurement of calcium levels. Hypoparathyroidism and autoimmunity occur frequently together. Our findings of autoimmune diseases in 10% of the patients highlight the importance of stringent screening and follow-up routines.

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Clinical characteristics of children with hypoparathyroidism due to 22q11.2 microdeletion

Abstract: HP due to del22q11.2 may be misdiagnosed as idiopathic, especially in an infant who lacks apparent complications like cardiac anomaly. They should be closely followed up for auto-immune complications.

Cited by 56 publications

References 18 publications

Presenting phenotype in 100 children with the 22q11 deletion syndrome

Presenting phenotype in 100 children with the 22q11 deletion syndrome

Endocrine Manifestations of Chromosome 22q11.2 Microdeletion Syndrome

Hypoparathyroidism and autoimmunity in the 22q11.2 deletion syndrome

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