congenital nongoitrous hypothyroidism 6

Congenital Nongoitrous Hypothyroidism 6 (CHNGH6)

Congenital nongoitrous hypothyroidism 6, also known as CHNGH6, is a rare form of congenital hypothyroidism that affects the thyroid gland's ability to produce thyroid hormones. This condition is characterized by growth retardation, developmental retardation, skeletal dysplasia, and borderline low levels of plasma TSH.

Key Features:

• Growth retardation: Infants with CHNGH6 may experience delayed growth and development.
• Developmental retardation: Children with this condition may exhibit delays in cognitive and motor skills development.
• Skeletal dysplasia: CHNGH6 is associated with skeletal abnormalities, including bone deformities and short stature.
• Borderline low plasma TSH levels: The thyroid-stimulating hormone (TSH) levels are typically lower than normal but not as low as in other forms of congenital hypothyroidism.

Causes and Genetics:

The exact cause of CHNGH6 is unknown, but it is believed to be related to genetic mutations that affect the development and function of the thyroid gland. Research suggests that this condition may be caused by a combination of genetic and environmental factors.

Diagnosis and Treatment:

CHNGH6 can be diagnosed through a combination of clinical evaluation, laboratory tests (including TSH levels), and imaging studies (such as ultrasound or CT scans). Early diagnosis is crucial to prevent irreversible neurological deficits. Treatment typically involves thyroid hormone replacement therapy to stimulate growth and development.

References:

• [13] Hypothyroidism, congenital, nongoitrous, 6 is a disease characterized by growth retardation, developmental retardation, skeletal dysplasia, borderline low plasma TSH levels.
• [14] Clinical resource with information about Hypothyroidism congenital nongoitrous 2 and its clinical features, PAX8, available genetic tests from US and labs around the world and links to practice guidelines and authoritative resources like GeneReviews, PubMed,

Common Signs and Symptoms of Congenital Nongoitrous Hypothyroidism

Congenital nongoitrous hypothyroidism is a condition where the thyroid gland does not develop correctly or function properly, leading to a shortage of thyroid hormones in newborns. The signs and symptoms of this condition can vary from baby to baby, but some common features include:

• Decreased activity and increased sleep: Affected babies may be less active than usual and sleep more than normal.
• Feeding difficulty: Newborns with congenital nongoitrous hypothyroidism may have trouble feeding or show a decreased interest in nursing.
• Constipation: Infants with this condition may experience constipation, which can lead to prolonged jaundice (yellowing of the skin and eyes).
• Prolonged jaundice: Jaundice

Diagnostic Tests for Congenital Nongoitrous Hypothyroidism

Congenital nongoitrous hypothyroidism is a condition characterized by the partial or complete loss of function of the thyroid gland, affecting infants from birth. Diagnostic tests play a crucial role in confirming this condition.

• Elevated Serum TSH and Low T4 or Free T4 Level: The diagnosis should be confirmed by finding an elevated serum Thyroid-Stimulating Hormone (TSH) and low levels of Triiodothyronine (T4) or free T4 level [5].
• Thyroid Radionuclide Uptake and Scan: Other diagnostic tests, such as thyroid radionuclide uptake and scan, may help pinpoint the underlying cause of congenital nongoitrous hypothyroidism [9].
• Serum Thyroglobulin Determination: Serum thyroglobulin determination can also be used to aid in diagnosis [9].

Genetic Testing

In addition to these tests, genetic testing can also be performed to confirm the diagnosis.

• Sequence Analysis of Select Exons: Sequence analysis of select exons can detect mutations that may cause congenital nongoitrous hypothyroidism [2].
• Deletion/Duplication Analysis: Deletion/duplication analysis can identify deletions or duplications in the PAX8 gene, which can lead to this condition [2].

References

[1] Testing is performed by sequencing the entire coding region and the promoter of the PAX8 gene. This will detect point mutations, small deletions and small ...

[5] by MV Rastogi · 2010 · Cited by 996 — The diagnosis should be confirmed by finding an elevated serum TSH and low T4 or free T4 level.

[9] Other diagnostic tests (thyroid radionuclide uptake and scan, thyroid sonography, or serum thyroglobulin determination) may help pinpoint the underlying ...

Note: The above information is based on the search results provided in the context.

Treatment Options for Congenital Nongoitrous Hypothyroidism

The primary treatment for congenital nongoitrous hypothyroidism is the administration of thyroid hormone replacement therapy. According to various studies, levothyroxine (l-T4) is commonly employed to correct hormone deficiency in children with this condition and in adult patients with iatrogenic hypothyroidism [5].

Levothyroxine (l-T4) Therapy

The mainstay of treatment for congenital nongoitrous hypothyroidism is a daily dose of thyroid hormone, typically levothyroxine (LT4), administered orally. This simple and effective treatment has been widely adopted in developed countries to ensure normal growth and neuropsychological development [12].

Importance of Early Diagnosis and Treatment

Prompt diagnosis and initiation of treatment are crucial to prevent irreversible neurological deficits. Newborn screening programs have led to earlier detection and treatment of congenital hypothyroidism, significantly reducing the risk of intellectual disability [10].

Differential Diagnosis of Congenital Nongoitrous Hypothyroidism 6

Congenital nongoitrous hypothyroidism 6 (CHNG6) is a rare form of thyroid dysfunction present at birth. The differential diagnosis for CHNG6 involves considering various conditions that may cause similar symptoms and laboratory findings.

Primary Causes:

• Thyroid dysgenesis: This refers to the abnormal development or formation of the thyroid gland, which can lead to hypothyroidism (1).
• Thyroid dyshormonogenesis: This is a genetic disorder affecting the production of thyroid hormones, leading to congenital hypothyroidism (4).

Secondary Causes:

• Pituitary-thyroid axis dysfunction: Abnormalities in the hypothalamic-pituitary-thyroid (HPT) axis can lead to decreased production of thyroid-stimulating hormone (TSH), resulting in hypothyroidism (8).
• Thyroid gland agenesis or aplasia: The complete absence or underdevelopment of the thyroid gland, leading to congenital hypothyroidism (1).

Other Considerations:

• Skeletal dysplasias: Certain genetic disorders affecting bone development can be associated with CHNG6 (5).
• Growth retardation and developmental delays: These symptoms can be present in infants with CHNG6 due to the underlying thyroid dysfunction (2, 9).

It is essential to note that a comprehensive diagnostic workup, including laboratory tests and imaging studies, is necessary to confirm the diagnosis of congenital nongoitrous hypothyroidism 6.

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 (congenital).

(4) by MV Rastogi · 2010 · Cited by 998 — Congenital hypothyroidism (CH) is defined as thyroid hormone deficiency present at birth. Thyroid hormone deficiency at birth is most commonly caused by a ...

(5) A disease characterized by growth retardation, developmental retardation, skeletal dysplasia, borderline low thyroxine levels and high triiodothyronine ...

(8) by P van Trotsenburg · 2021 · Cited by 380 — Congenital hypothyroidism (CH) can be defined as (variable) dysfunction of the hypothalamic–pituitary–thyroid (HPT) axis present at birth, resulting in ...

(9) Hypothyroidism, congenital, nongoitrous, 6 is a disease characterized by growth retardation, developmental retardation, skeletal dysplasia, borderline low ...