Monogenic Thyroid Disorder / 대한갑상선학회지

Monogenic disorder is a single gene disorder resulted of a single mutated gene. Monogenic disorder has benefits in early diagnosis and precious prediction of disease course. Furthermore, monogenic disorder could provide an informative knowledge to the understanding of related pathophysiology. Thyroid monogenic disorder could occur in various steps, such as thyroid development, hormonogenesis, TSH-receptor signaling, thyroid hormone transport and end organ response. Here, we reviewed of congenital hypothyroidism, congenital hyperthyroidism and thyroid hormone resistance syndrome.

Recent Trends in Preimplantation Genetic Diagnosis (PGD) / 대한산부인과학회지

Preimplantation genetic diagnosis (PGD) provides practical option to prevent the termination of pregnancy and miscarriage in couples with high risk of genetic disease or recurrent spontaneous abortion. In balanced chromosomal translocation, PGD can reduce the abortion rate and with PGD for aneuploidy screening, higher implantation rate and lower abortion rate can be obtained in patients with poor reproductive prognosis. Therefore PGD is widely used in ART for improving IVF efficiency. With technical development in single cell, such as FISH, PCR, CGH and microarray, the indications have expanded beyond the monogenic disease and chromosome aberration, as late-onset disease or HLA matching for stem cell donor.