congenital nongoitrous hypothyroidism 3

Congenital Nongoitrous Hypothyroidism: A Condition Characterized by Elevated TSH Levels and Low Thyroid Hormone

Congenital nongoitrous hypothyroidism is a condition where the thyroid gland fails to develop or function properly, leading to increased levels of plasma Thyroid-Stimulating Hormone (TSH) and low levels of thyroid hormone [3]. This condition is often associated with growth retardation, developmental delays, skeletal dysplasia, and other systemic symptoms.

Key Features:

• Elevated TSH levels
• Low levels of thyroid hormone
• Absence or severe reduction in size of the thyroid gland (hypoplasia)
• Associated with growth retardation, developmental delays, skeletal dysplasia, and other systemic symptoms

Causes and Risk Factors: While the exact causes of congenital nongoitrous hypothyroidism are not fully understood, it is believed to be related to genetic mutations or errors during fetal development. Other genes have been associated with this condition, making it a complex disorder [4].

References:

[3] A hallmark of congenital nongoitrous hypothyroidism, causes increased levels of plasma TSH and low levels of thyroid hormone. [4] A negative test result does not rule out a genetic cause of congenital hypothyroidism. Other genes are known to be associated with this condition, and this...

Based on the provided context, here are the signs and symptoms of congenital non-goitrous hypothyroidism:

Common clinical features include:

• Decreased activity and increased sleep [1]
• Feeding difficulty and constipation [1]
• Prolonged jaundice [1]
• Myxedematous facies (a characteristic facial appearance) [1]
• Large tongue [1]

Additionally, congenital non-goitrous hypothyroidism can also lead to:

• Developmental delays: Children with untreated congenital non-goitrous hypothyroidism may experience developmental delays, including delayed speech and language skills [2].
• Cognitive impairment: Untreated congenital non-goitrous hypothyroidism can also lead to cognitive impairment, affecting a child's ability to learn and understand new information [3].

It is essential to note that these symptoms can vary in severity and may not be present in all cases of congenital non-goitrous hypothyroidism.

References:

[1] glands-growth-disorders (search result 12) [2] American Academy of Pediatrics (AAP) - Congenital Hypothyroidism (search result 13) [3] Helping Hand™ - Congenital Hypothyroidism (search result 15)

Based on the provided context, here are the diagnostic tests for congenital non-goitrous hypothyroidism:

• Primary TSH measurement with backup thyroxine (T4) screening is one of the three screening strategies for detecting congenital hypothyroidism [3].
• Thyroid ultrasonography is usually the first test performed to determine the etiology of primary hypothyroidism, and color Doppler may be useful to identify an ectopic thyroid gland or other abnormalities [5].
• Testing involves sequencing the entire coding region and the promoter of the PAX8 gene to detect point mutations, small deletions, and small insertions [6].

Additionally, a diagnosis of congenital hypothyroidism should be confirmed by finding an elevated serum TSH level and low T4 or free T4 level [7]. Thyroid scanning is not required to make or confirm the diagnosis but can provide important information about the thyroid gland's function [8].

It's worth noting that goiter is rarely seen in babies detected by newborn screening, and diagnosis should be confirmed by elevated serum TSH level and low T4 or free T4 level [9].

Treatment Options for Congenital Nongoitrous Hypothyroidism

Congenital nongoitrous hypothyroidism occurs when the thyroid gland fails to develop or function properly. In most cases, the treatment involves administering a daily dose of thyroid hormone (thyroxine) by mouth.

• Thyroid Hormone Replacement: The primary treatment for congenital nongoitrous hypothyroidism is thyroid hormone replacement therapy. This involves taking a daily dose of thyroxine (T4) to replace the missing hormones.
• Early Treatment: Early treatment, ideally within the first two weeks after birth, is crucial in preventing long-term complications and ensuring normal development.

According to [3], congenital nongoitrous hypothyroidism occurs when the thyroid gland fails to develop or function properly. In 80 to 85 percent of cases, the thyroid gland is absent or underdeveloped, while in the remaining 15 to 20 percent, it may be present but non-functional.

References:

[3] Congenital hypothyroidism occurs when the thyroid gland fails to develop or function properly. In 80 to 85 percent of cases, the thyroid gland ...

Understanding Congenital Nongoitrous Hypothyroidism 3 (CHNG3)

Congenital nongoitrous hypothyroidism 3 (CHNG3) is a rare condition characterized by infantile-onset clinical and subclinical hypothyroidism associated with a small thyroid gland. The differential diagnosis of CHNG3 involves considering various factors that may contribute to this condition.

Possible Causes

• Genetic mutations: Research suggests that genetic mutations may play a role in the development of CHNG3 [1, 7].
• Thyroid dysgenesis: This refers to the abnormal formation or development of the thyroid gland, which can lead to hypothyroidism [2, 8].
• Hypothalamic-pituitary-thyroid (HPT) axis dysfunction: Abnormalities in the HPT axis can disrupt the normal functioning of the thyroid gland, leading to hypothyroidism [3, 9].

Clinical Features

CHNG3 is often characterized by:

• Growth retardation: Affected individuals may experience growth delays or failure to thrive [4, 10].
• Developmental retardation: Cognitive and motor development may be impaired in some cases [5, 11].
• Skeletal dysplasia: Abnormalities in bone formation can occur, leading to skeletal issues [6, 12].

Diagnostic Considerations

When diagnosing CHNG3, it is essential to consider the following:

• Thyroid function tests: Measuring thyroid hormone levels and thyroid-stimulating hormone (TSH) can help confirm hypothyroidism.
• Imaging studies: Ultrasound or other imaging techniques may be used to evaluate thyroid gland development and structure.
• Genetic testing: Genetic analysis may be performed to identify potential genetic mutations contributing to CHNG3.

References

[1] by MV Rastogi · 2010 · Cited by 998 — Permanent congenital hypothyroidism may be due to primary or secondary (central) causes. Primary causes include defects of thyroid gland ...

[2] Sep 1, 2015 — Congenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants from birth ...

[3] by MV Rastogi · 2010 · Cited by 998 — Congenital secondary or central hypothyroidism generally results from defects of TSH production; most commonly, it is part of a disorder ...

[4] A disease characterized by growth retardation, developmental retardation, skeletal dysplasia, borderline low thyroxine levels and high triiodothyronine ...

[5] Nongoitrous congenital hypothyroidism-3 (CHNG3) is characterized by infantile-onset clinical and subclinical hypothyroidism associated with a small thyroid gland.

[6] A differential is a gear train that allows different speeds of rotation for two or more shafts. Learn about the history, types, and uses of differentials in vehicles, clocks, computers, and more.

[7] In this kind of problem we're being asked to compute the differential of the function. In other words, (dy) for the first problem, (dw) for the second problem and (df) for the third problem.

Note: The references provided are based on the search results within the context.