Carbimazole/methimazole embryopathy in siblings: a possible genetic susceptibility
1Hunter Genetics, Waratah, NSW, Australia; University of Newcastle, Callaghan, NSW, Australia.
Background:
The teratogenic effects of antenatal exposure of antithyroid drugs, carbimazole and methimazole have been well reported in the literature. These comprise of typical facial features and a wide variety of malformations such as choanal atresia, tracheo-esophageal anomalies, congenital heart disease and ectodermal defects. However, the longitudinal studies have failed to establish the consistent teratogenicity of these drugs.
Cases:
we report here two siblings with physical features consistent with carbimazole/methimazole embryopathy. We also describe previously unreported minor dental anomalies in these siblings with antenatal exposure of carbimazole.
Conclusion:
Generally, only a small proportion of prenatally exposed children have the typical manifestations, and the presence in siblings supports a possible hereditary susceptibility to carbimazole/ methimazole embryopathy. This highlights the importance of recognizing this diagnosis before a subsequent pregnancy.
Insights
Antithyroid drugs like carbimazole can cause birth defects. Siblings exposed prenatally showed similar features, suggesting a possible genetic link to carbimazole/methimazole embryopathy.
Area of Science:
- Developmental Biology
- Teratology
- Human Genetics
Background:
- Antenatal exposure to antithyroid drugs, specifically carbimazole and methimazole, is linked to teratogenic effects.
- Reported malformations include facial dysmorphia, choanal atresia, tracheo-esophageal anomalies, congenital heart disease, and ectodermal defects.
- However, consistent teratogenicity has not been definitively established in longitudinal studies.
Observation:
- This report details two siblings exhibiting physical features consistent with carbimazole/methimazole embryopathy.
- Previously undocumented minor dental anomalies were observed in these siblings following antenatal carbimazole exposure.
Findings:
- The occurrence of similar features in siblings suggests a potential hereditary susceptibility to carbimazole/methimazole embryopathy.
- This familial pattern indicates that genetic factors may influence an individual's response to prenatal exposure.
Implications:
- Recognizing carbimazole/methimazole embryopathy is crucial for clinical management and genetic counseling.
- Early diagnosis can inform reproductive decisions and prenatal care in subsequent pregnancies.
- Further research into genetic predispositions for antithyroid drug embryopathy is warranted.
More Related Videos
Related Concept Videos
02:30Genomic Imprinting and Inheritance
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
01:11Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
01:07Teratogenicity
02:41Lethal Alleles
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
01:29Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
01:49Probability Laws