Introduction
Birth defects are conditions that occur during fetal development, resulting in abnormal or incomplete structures or functions in the body. They can affect any part of the body and range from mild to severe. Birth defects can be caused by genetic factors, environmental factors, or a combination of both. The complex network of glands and organs that make and secrete hormones into the bloodstream to control different bodily processes is known as the endocrine system. The endocrine system produces and regulates hormones that manage various bodily functions, such as growth, metabolism, and reproductive health. These hormones work as chemical messengers that influence a variety of physiological processes, including metabolism, temperament, sexual function, and growth and development. One of the organ systems that can be affected by birth defects is the endocrine system. Some of the birth defects that can affect the endocrine system are described below.
What Are the Common Birth Defects Affecting the Endocrine System?
1. Congenital hypothyroidism.
2. Congenital adrenal hyperplasia
3. Congenital estrogen deficiency
4. Pendred syndrome
5. Persistent thyroglossal duct cyst
6. Thyroglossal cyst.
What Is Congenital Hypothyroidism?
Congenital hypothyroidism (CH) is a condition in which an infant is born with an underactive thyroid gland, which results in a deficiency of thyroid hormones. These hormones are essential for proper growth and development, including brain development. The symptoms of CH may not be apparent at birth, but they can become more pronounced over time if the condition is not detected and treated.
Symptoms of CH in infants may include:
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Poor feeding or slow weight gain.
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Sleepiness or lethargy.
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Jaundice.
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Dry skin.
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Hoarse cry.
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Large anterior fontanelle.
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Umbilical hernia.
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Hypothermia.
Treatment of CH includes thyroid hormone replacement therapy, typically in the form of oral Levothyroxine, which is used to manage CH. Normalizing thyroid hormone levels and fostering healthy growth and development are the two main objectives of therapy. Complications including intellectual disability and developmental delays can be avoided with prompt detection and management. Therefore, newborns are screened for CH within the first few days of life through a heel prick blood test. If the test results are abnormal, the infant is referred for further evaluation and treatment.
What Is Congenital Adrenal Hyperplasia?
Congenital adrenal hyperplasia (CAH) is a group of inherited disorders that affect the adrenal glands, which produce hormones that are essential for the body's normal function.
In CAH, the adrenal glands may produce too little of certain hormones, such as cortisol and aldosterone, which are important for regulating metabolism and electrolyte balance. This condition can cause symptoms like fatigue, weight loss, dehydration, and hypotension.
Symptoms of CAH vary depending on the type and severity of the disorder, but may include:
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Abnormal genitalia in females.
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Early puberty.
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Short stature.
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Excessive hair growth.
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Infertility.
Treatment for CAH typically involves hormone replacement therapy to replace the deficient hormones and suppress the overproduction of other hormones. In some cases, surgery may be needed to correct any genital abnormalities.
What Is Congenital Estrogen Deficiency?
Congenital estrogen deficiency (CED) is a rare condition in which an individual is born with an insufficient amount of estrogen. Estrogen is an essential hormone for the growth and operation of reproductive and other bodily systems in both genders. CED is an extremely rare condition, with only a few cases reported. It can affect both males and females, although it is more commonly reported in females.
The symptoms of CED can vary depending on the severity of the condition and the age of the individual. Symptoms in females may include:
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Delayed onset of puberty.
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Absence of menstruation.
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Underdeveloped or absent breasts.
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Vaginal dryness.
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Infertility.
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Decreased bone density.
In males, CED can cause:
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Delayed onset of puberty.
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Underdeveloped or absent testes.
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Reduced muscle mass and strength.
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Decreased bone density.
The treatment for CED involves hormone replacement therapy (HRT) with estrogen. The goal of treatment is to replace the missing estrogen and promote the development of secondary sexual characteristics and other systems that are dependent on estrogen. In females, estrogen therapy can be started around the time of expected puberty. In males, testosterone therapy may also be needed in addition to estrogen therapy.
What Is Pendred Syndrome?
Pendred syndrome is a genetic disorder that affects the development of the inner ear and thyroid gland. The condition is uncommon and is inherited in an autosomal recessive pattern, requiring an individual to receive two copies of the mutated gene from each parent to develop the condition.
It is a rare condition, and its prevalence is not well established. However, it is estimated to affect approximately 1 in 7,000 to 1 in 10,000 individuals worldwide.
The symptoms of Pendred syndrome can vary in severity, and some individuals may not show any symptoms at all. The hallmark feature of the condition is hearing loss, which is typically present at birth or in early childhood and can be progressive over time. Other symptoms may include:
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Abnormalities in the development of the inner ear.
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Enlargement of the thyroid gland (goiter).
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Hypothyroidism (underactive thyroid).
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Balance problems.
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Tinnitus (ringing in the ears).
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Vertigo (dizziness).
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Difficulty with speech and language development.
Treatment may include:
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Hearing aids or cochlear implants to manage hearing loss.
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Thyroid hormone replacement therapy to manage hypothyroidism.
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Surgery to remove the goiter if it is causing significant symptoms or compression of other structures in the neck.
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Vestibular rehabilitation therapy to manage balance problems.
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Genetic counseling may be recommended for affected individuals and their families to discuss the risk of passing the condition on to future generations.
What Is a Thyroglossal Duct Cyst?
A thyroglossal duct cyst is a fluid-filled sac that forms in the neck during embryonic development when the thyroid gland migrates from its original location in the back of the tongue to its final position in the front of the neck.
The symptoms of a persistent thyroglossal duct cyst may include:
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A painless lump or swelling in the neck, typically located near the midline.
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Swelling and tenderness of the area around the lump.
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Difficulty swallowing or breathing if the cyst becomes large enough to compress nearby structures.
The treatment for a persistent thyroglossal duct cyst is typically surgical removal. The surgery involves removing the cyst and the tract that connects it to the thyroid gland. In some cases, the entire thyroid gland may need to be removed if the cyst is located near it. Surgery is usually performed under general anesthesia, and the incision is typically made in the neck.
What Is a Persistent Thyroglossal Duct Cyst?
A persistent thyroglossal duct cyst is a type of thyroglossal cyst that does not resolve on its own and continues to grow over time. It may also be more likely to become infected or cause other complications.Both thyroglossal duct cysts and persistent thyroglossal duct cysts are similar in terms of their origin and location in the neck. The key distinction between both is that a persistent thyroglossal duct cyst is a problem that develops when the thyroglossal duct fails to completely close during fetal development as opposed to a thyroglossal cyst, which is often present at birth as a congenital defect.
Treatment for both types of cysts is typically surgical removal to prevent infection and other complications. The surgical procedure involves removing the cyst and the tract that connects it to the base of the tongue or the thyroid gland, depending on the location of the cyst. A thyroglossal cyst is a congenital cyst that forms in the neck due to the persistence of the thyroglossal duct, while a persistent thyroglossal duct cyst is a type of thyroglossal cyst that does not resolve on its own and continues to grow over time. Both types of cysts are typically treated with surgical removal.
Conclusion
Several birth defects can affect the endocrine system, which produces and regulates hormones in the body. Congenital hypothyroidism, congenital adrenal hyperplasia, congenital estrogen deficiency, Pendred syndrome, persistent thyroglossal duct cysts, and thyroglossal cysts are some of the most common conditions that can impact the endocrine system. Treatment often involves hormone replacement therapy and/or surgery to correct structural abnormalities. Identifying the condition early on and promptly beginning treatment can effectively control symptoms and avert the risk of chronic health issues.
