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

M. Adachi, K. Tachibana, M. Masuno, Y. Makita, H. Maesaka, T. Okada, K. Hizukuri, K. Imaizumi, Y. Kuroki, Hiroki Kurahashi, S. Suwa

Research output: Contribution to journalArticle

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Abstract

The phenotypes of chromosomal 22q11.2 microdeletion are quite variable among individuals and hypoparathyroidism (HP) constitutes a definite portion of the clinical spectrum. For the correct diagnosis and pertinent follow up of the HP children due to del22q11.2, we tried to delineate the clinical characteristics of such patients. By employing fluorescence in situ hybridization (FISH) to all the patients diagnosed as HP in our clinic, ten possessed the 22q11.2 microdeletion. Among them, the incidence of cardiac defect (5/10), recurrent infection (1/10) and cleft palate (1/10) was modest. Additionally, seven of them had been diagnosed as HP during the infantile period, when their facial abnormality and intellectual problem had not become evident. Notably, two patients were complicated by Graves disease, while the association of idiopathic thrombocytopenic purpura was also observed in two girls. Conclusion: 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.

Original languageEnglish
Pages (from-to)34-38
Number of pages5
JournalEuropean Journal of Pediatrics
Volume157
Issue number1
DOIs
Publication statusPublished - 01-04-1998
Externally publishedYes

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Hypoparathyroidism
Idiopathic Thrombocytopenic Purpura
Graves Disease
Cleft Palate
Diagnostic Errors
Fluorescence In Situ Hybridization
Phenotype
Incidence
Infection

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

Cite this

Adachi, M., Tachibana, K., Masuno, M., Makita, Y., Maesaka, H., Okada, T., ... Suwa, S. (1998). Clinical characteristics of children with hypoparathyroidism due to 22q11.2 microdeletion. European Journal of Pediatrics, 157(1), 34-38. https://doi.org/10.1007/s004310050762
Adachi, M. ; Tachibana, K. ; Masuno, M. ; Makita, Y. ; Maesaka, H. ; Okada, T. ; Hizukuri, K. ; Imaizumi, K. ; Kuroki, Y. ; Kurahashi, Hiroki ; Suwa, S. / Clinical characteristics of children with hypoparathyroidism due to 22q11.2 microdeletion. In: European Journal of Pediatrics. 1998 ; Vol. 157, No. 1. pp. 34-38.
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Adachi, M, Tachibana, K, Masuno, M, Makita, Y, Maesaka, H, Okada, T, Hizukuri, K, Imaizumi, K, Kuroki, Y, Kurahashi, H & Suwa, S 1998, 'Clinical characteristics of children with hypoparathyroidism due to 22q11.2 microdeletion', European Journal of Pediatrics, vol. 157, no. 1, pp. 34-38. https://doi.org/10.1007/s004310050762

Clinical characteristics of children with hypoparathyroidism due to 22q11.2 microdeletion. / Adachi, M.; Tachibana, K.; Masuno, M.; Makita, Y.; Maesaka, H.; Okada, T.; Hizukuri, K.; Imaizumi, K.; Kuroki, Y.; Kurahashi, Hiroki; Suwa, S.

In: European Journal of Pediatrics, Vol. 157, No. 1, 01.04.1998, p. 34-38.

Research output: Contribution to journalArticle

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T1 - Clinical characteristics of children with hypoparathyroidism due to 22q11.2 microdeletion

AU - Adachi, M.

AU - Tachibana, K.

AU - Masuno, M.

AU - Makita, Y.

AU - Maesaka, H.

AU - Okada, T.

AU - Hizukuri, K.

AU - Imaizumi, K.

AU - Kuroki, Y.

AU - Kurahashi, Hiroki

AU - Suwa, S.

PY - 1998/4/1

Y1 - 1998/4/1

N2 - The phenotypes of chromosomal 22q11.2 microdeletion are quite variable among individuals and hypoparathyroidism (HP) constitutes a definite portion of the clinical spectrum. For the correct diagnosis and pertinent follow up of the HP children due to del22q11.2, we tried to delineate the clinical characteristics of such patients. By employing fluorescence in situ hybridization (FISH) to all the patients diagnosed as HP in our clinic, ten possessed the 22q11.2 microdeletion. Among them, the incidence of cardiac defect (5/10), recurrent infection (1/10) and cleft palate (1/10) was modest. Additionally, seven of them had been diagnosed as HP during the infantile period, when their facial abnormality and intellectual problem had not become evident. Notably, two patients were complicated by Graves disease, while the association of idiopathic thrombocytopenic purpura was also observed in two girls. Conclusion: 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.

AB - The phenotypes of chromosomal 22q11.2 microdeletion are quite variable among individuals and hypoparathyroidism (HP) constitutes a definite portion of the clinical spectrum. For the correct diagnosis and pertinent follow up of the HP children due to del22q11.2, we tried to delineate the clinical characteristics of such patients. By employing fluorescence in situ hybridization (FISH) to all the patients diagnosed as HP in our clinic, ten possessed the 22q11.2 microdeletion. Among them, the incidence of cardiac defect (5/10), recurrent infection (1/10) and cleft palate (1/10) was modest. Additionally, seven of them had been diagnosed as HP during the infantile period, when their facial abnormality and intellectual problem had not become evident. Notably, two patients were complicated by Graves disease, while the association of idiopathic thrombocytopenic purpura was also observed in two girls. Conclusion: 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.

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