Please use this identifier to cite or link to this item: http://sgc.anlis.gob.ar/handle/123456789/2278
Title: Choanal atresia associated with maternal hyperthyroidism treated with methimazole : a case-control study
Authors: Barbero, Pablo 
Valdez, Rita 
Rodríguez, Hugo 
Tiscornia, Carlos 
Mansilla, Enrique 
Allons, Adriana 
Coll, Silvia 
Liascovich, Rosa 
Keywords: Atresia de las Coanas;Antitiroideos;Exposición Materna;Anomalías Inducidas por Medicamentos
Issue Date: 15-Sep-2008
Journal: American journal of medical genetics. Part A 
Abstract: 
Thyrotoxicosis affects 0.2% of pregnant women and antithyroid drugs are the treatment of choice during pregnancy. Several case reports have suggested a relationship between the prenatal use of methimazole (MMI) and choanal atresia in the offspring. However, two epidemiological studies did not find an increased teratogenic risk for MMI. This multicenter case-control study compared the frequency of maternal hyperthyroidism treated with MMI during pregnancy, in children with choanal atresia (cases) and a control group randomly selected (three matched controls according to maternal age for each case). Mothers of cases (N = 61) and controls (N = 183) were interviewed for socio-demographic questions, obstetrical and genetic history, and exposure during pregnancy to different agents; specifically detailed information regarding hyperthyroidism and MMI intake was obtained. Prenatal exposure to maternal hyperthyroidism treated with MMI was identified in 10/61 cases (16.4%) compared to 2/183 (1.1%) in the control group (OR = 17.75; CI95% = 3.49-121.40). Cases and controls did not differ in their parental degree of education, paternal occupation, twinning, maternal parity, and other exposures during pregnancy. Facial features in exposed cases showed some similarities. Our data suggest that prenatal exposure to maternal hyperthyroidism treated with MMI is associated with choanal atresia. In addition, based on our cases and a critical literature review, we propose that the mother's disease might be the causal factor and not the MMI treatment.
Description: 
Fil: Barbero, Pablo. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.

Fil: Valdez, Rita. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.

Fil: Rodríguez, Hugo. Hospital de Pediatría J. P. Garrahan. Servicio de Endoscopía Respiratoria; Argentina.

Fil: Tiscornia, Carlos. Hospital de Pediatría J. P. Garrahan. Servicio de Endoscopía Respiratoria; Argentina.

Fil: Mansilla, Enrique. Hospital de Clínicas J. de San Martín. Sector de Otorrinolaringología Infantil; Argentina.

Fil: Allons, Adriana. Hospital de Niños R. Gutierrez. Servicio de Endoscopía Respiratoria; Argentina.

Fil: Coll, Silvia. Hospital de Niños R. Gutierrez. Servicio de Endoscopía Respiratoria; Argentina.

Fil: Liascovich, Rosa. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
URI: http://sgc.anlis.gob.ar/handle/123456789/2278
DOI: 10.1002/ajmg.a.32497
Rights: Closed Access
Appears in Collections:Publicaciones CeNaGeM

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