Cretinism: An Overview
Introduction
Cretinism, also known as ‘congenital hypothyroidism’, is a rare condition in which the thyroid gland doesn’t produce enough of the hormones needed for normal growth and development. This condition is primarily caused by the lack of iodine in the diet, leading to a deficiency of the thyroid hormone thyroxine. It is estimated that up to 2 million children worldwide are affected by cretinism every year (Lazar, 2006).
Causes
The primary cause of cretinism is the lack of iodine in the diet. This is due to the fact that iodine is essential for the synthesis of the thyroid hormones thyroxine and triiodothyronine (Lazar, 2006). The lack of iodine can be caused by a number of factors, including: geographical location (iodine-deficient soils); dietary deficiencies; and certain medical conditions.
In addition, certain genetic factors have been linked to the development of cretinism. For example, mutations in the thyroid stimulating hormone receptor gene can lead to decreased thyroxine production, resulting in cretinism (Lazar, 2006).
Symptoms
The symptoms of cretinism vary depending on the severity of the condition. Common symptoms include: slowed growth and development; delayed bone maturation; and mental retardation. Physical features may include: stunted growth; abnormal facial features; and deafness (Lazar, 2006).
Diagnosis
The diagnosis of cretinism is based on a combination of physical examination, laboratory tests, and imaging. Blood tests are used to measure the levels of thyroid hormones and iodine in the blood. Thyroid ultrasound is used to evaluate the size and structure of the thyroid gland. X-rays and CT scans may also be used to identify any underlying bone abnormalities (Lazar, 2006).
Treatment
The treatment of cretinism is aimed at replacing the missing thyroid hormones. This is usually done by taking synthetic thyroxine tablets. In severe cases, surgery may be necessary to remove the thyroid gland. In addition, dietary changes may be necessary to ensure adequate iodine intake (Lazar, 2006).
Conclusion
Cretinism is a rare condition caused by the lack of iodine in the diet. It is characterized by slowed growth and development, delayed bone maturation, and mental retardation. Diagnosis is based on physical examination, laboratory tests, and imaging. Treatment is aimed at replacing the missing thyroid hormones, with synthetic thyroxine tablets or surgery.
References
Lazar, G. (2006). Cretinism. In M. B. Sperling (Ed.), Comprehensive endocrinology (pp. 489-496). New York, NY: Humana Press.