Will congenital hypothyroidism be inherited by the next generation

Congenital hypothyroidism may be passed on to the next generation, but the genetic probability is influenced by the parental gene type. The genetic mechanisms of congenital hypothyroidism mainly include thyroid hormone synthesis disorders, thyroid developmental abnormalities, central hypothyroidism, iodine transport defects, Pendred syndrome, etc.

1. Thyroid hormone synthesis disorder

Thyroid hormone synthesis disorder is a common genetic type of congenital hypothyroidism, often caused by mutations in genes such as TPO and TG. These patients have abnormal function of key enzymes involved in thyroid hormone synthesis, which may be transmitted to their children through autosomal recessive inheritance. Prenatal newborn screening can detect symptoms early, and timely supplementation of levothyroxine sodium after birth can effectively control symptoms.

2. Abnormal thyroid development

Hypothyroidism or ectopic thyroid may be caused by mutations in genes such as NKX2-1 and PAX8. About half of these developmental abnormalities are related to genetics, manifested as small thyroid volume or abnormal position. Fetal ultrasound examination may reveal abnormal thyroid morphology, requiring lifelong hormone replacement therapy after birth.

3. Central hypothyroidism

Central hypothyroidism caused by hypothalamic pituitary lesions may be inherited, commonly seen in mutations in genes such as PROP1 and POU1F1. These patients often have other pituitary hormone deficiencies in addition to thyroid dysfunction. During genetic counseling, it is necessary to evaluate whether there is a history of multi hormone deficiency in the family. Diagnosis can be made in the neonatal period through a combined screening of TSH and FT4.

4. Iodine transport deficiency

Iodine transport disorders caused by mutations in the SLC5A5 gene belong to autosomal recessive genetic diseases. The patient's thyroid gland is unable to effectively uptake iodine, resulting in insufficient hormone synthesis materials. This type of genetic disease is less common in high iodine areas, and pre pregnancy genetic testing can evaluate the probability of couples carrying mutated genes.

5. Pendred Syndrome [SEP]: Pendred Syndrome caused by SLC26A4 gene mutation is characterized by hypothyroidism and deafness, and belongs to autosomal recessive inheritance. Patients often have thyroid enlargement and sensorineural hearing loss, with significant onset in childhood. Prenatal genetic diagnosis can determine whether the fetus carries pathogenic genes, and newborn hearing screening and thyroid function testing need to be performed simultaneously. Genetic counseling and genetic testing are recommended for patients with congenital hypothyroidism during family planning. Maintain normal thyroid function during pregnancy and avoid iodine deficiency or excess. Newborns should complete heel blood screening within 72 hours after birth, and diagnosed children should start standardized treatment within 2 weeks. Daily monitoring of growth and development curves, regular assessment of bone age and neurological development, ensuring sufficient intake of protein and trace elements, and avoiding consumption of foods that inhibit thyroid function.