Syndrome de délétion 22q11 et maladie de Basedow. À propos de trois observations pédiatriques

Gosselin, Julie; Lebon-Labich, Béatrice; Lucron, H.; Marçon, F; Leheup, B.

doi:10.1016/j.arcped.2004.09.002

Cited by 3 publications

(1 citation statement)

References 11 publications

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“…Desordens autoimunes, como a púrpura trombocitopênica idiopática, a anemia hemolítica autoimune, a artrite crônica juvenil, o diabetes mellitus tipo I e o hipotireoidismo, já foram relatadas em associação à SD22q11.2 (5,6). Na presente revisão, encontraramse na literatura apenas dezesseis casos semelhantes associando a SD22q11.2 à doença de Graves (5,10,(25)(26)(27)(28)(29)(30). A tabela 1 mostra o sumário dos 16 casos já relatados somados à presente descrição.…”

Section: Discussionunclassified

Doença de Graves e deficiência de IgA como manifestações da síndrome de deleção 22q11.2

Silva¹,

Silva²,

Melo³

et al. 2010

Arq Bras Endocrinol Metab

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The 22q11.2 deletion syndrome (22q11.2DS) is related to a high phenotypic variability including the velocardiofacial/DiGeorge spectrum. Autoimmune, endocrine and immunodeficiency manifestations have been reportedly associated with the syndrome. The objective of this study was to report a case of 22q11.2DS associated with IgA deficiency and Graves disease and review literature in order to verify the frequency of syndrome alterations. Autoimmune disorders have been increasingly related to 22q11.2DS, and new phenotypes are being incorporated in the clinical spectrum of this syndrome. In our study we found that Graves disease in association with 22q11.2DS was reported in only sixteen patients, and fifteen cases were described in the last 13 years. Based on the incidence and on the amplitude of this recognized spectrum, we reinforce the findings of literature that Graves disease should be included on the 22q11.2DS manifestations, which would lead us to seek it with 22q11.2 deletion patients.

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Section: Discussionunclassified

Doença de Graves e deficiência de IgA como manifestações da síndrome de deleção 22q11.2

Silva¹,

Silva²,

Melo³

et al. 2010

Arq Bras Endocrinol Metab

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Endocrine manifestations in adults with 22q11.2 deletion syndrome: a retrospective single-center cohort study

Soubry,

David,

Swillen

et al. 2024

J Endocrinol Invest

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Introduction and objective Patients with the 22q11.2 deletion syndrome (22q11DS) frequently display cardiological and psychiatric diseases, but are also at increased risk for endocrine manifestations. The aim of this study was to evaluate the screening, prevalence, and management of hypoparathyroidism and thyroid disease in patients with 22q11DS, to evaluate the metabolic profile, and to compare these results with current literature and guidelines. Design We performed a retrospective study of patients with genetically confirmed 22q11DS, followed at the center for human genetics of the University Hospitals Leuven, resulting in a cohort of 75 patients. Medical history, medication, and laboratory results concerning hypoparathyroidism, thyroid dysfunction, and the metabolic profile were collected. Results Of the total cohort, 26 patients (35%) had at least one hypocalcaemic episode. During hypocalcaemia, parathyroid hormone (PTH) was measured in only 12 patients with 11 having normal or low PTH, confirming a diagnosis of hypoparathyroidism. Recurrent episodes of hypocalcaemia occurred in seventeen patients (23%). Adherence to the guidelines was low, with 13% of patients having a yearly serum calcium evaluation, 12% receiving daily calcium supplements, and 20% receiving non-active vitamin D. Hypothyroidism was present in 31 patients (44%) and hyperthyroidism in 6 patients (8%). Information on body mass index (BMI) was available in 52 patients (69%), of which 38% were obese (BMI ≥ 30 kg/m2). Conclusion Hypoparathyroidism, hypothyroidism, and obesity are common endocrine manifestations in patients with 22q11DS but are probably underdiagnosed and undertreated, indicating the need for multidisciplinary follow-up including an endocrinologist.

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Velo-cardio-facial syndrome

Shprintzen

Higgins²,

Antshel

et al. 2005

Current Opinion in Pediatrics

102

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Its high population prevalence, estimated to be as common as 1:2000 has sparked a large amount of research, as has the model the syndrome serves for identifying the causes of mental illness and learning disabilities, but it is obvious that more information is needed. Intensive scrutiny of velo-cardio-facial syndrome will undoubtedly continue for many years to come with the hope that researchers will turn more of their attention to treatment and treatment outcomes.

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Syndrome de délétion 22q11 et maladie de Basedow. À propos de trois observations pédiatriques

Cited by 3 publications

References 11 publications

Doença de Graves e deficiência de IgA como manifestações da síndrome de deleção 22q11.2

Doença de Graves e deficiência de IgA como manifestações da síndrome de deleção 22q11.2

Endocrine manifestations in adults with 22q11.2 deletion syndrome: a retrospective single-center cohort study

Velo-cardio-facial syndrome

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