congenital nongoitrous hypothyroidism 7

Congenital Nongoitrous Hypothyroidism

Congenital nongoitrous hypothyroidism is a condition characterized by resistance to thyroid-stimulating hormone (TSH) [7]. This leads to increased levels of plasma TSH and low levels of thyroid hormone, which can cause various symptoms in infants from birth.

Key Features:

• Increased levels of plasma TSH
• Low levels of thyroid hormone
• Small thyroid gland

This condition is a type of congenital hypothyroidism, which affects the normal functioning of the thyroid gland. The small thyroid gland and low thyroid hormone levels can lead to various symptoms in infants, including weak cry, poor feeding, constipation, dry skin, and poor muscle tone [8].

Common symptoms of congenital nongoitrous hypothyroidism include:

• Decreased activity and increased sleep
• Feeding difficulty
• Constipation
• Prolonged jaundice
• Myxedematous facies (swelling in the face)
• Large tongue

These symptoms can occur in infants born with congenital nongoitrous hypothyroidism, a condition characterized by a shortage of thyroid hormones. If left untreated, this condition can lead to more severe complications.

References:

• [7] Common symptoms include decreased activity and increased sleep, feeding difficulty, constipation, and prolonged jaundice.
• [10] Affected babies may show no features of the condition, although some babies with congenital hypothyroidism are less active and sleep more than normal. They may have difficulty feeding and experience constipation.

Note: The symptoms listed above are based on information from search results 7 and 10 in the provided context.

Diagnostic Tests for Congenital Nongoitrous Hypothyroidism

Congenital nongoitrous hypothyroidism is a condition where the thyroid gland does not produce enough thyroid hormone, leading to various health issues. To diagnose this condition, several diagnostic tests can be performed.

• 22 Gene Panel: A 22 gene panel that includes assessment of non-coding variants is ideal for patients with a clinical suspicion of congenital hypothyroidism or thyroid dysgenesis [7]. This test helps identify genetic mutations associated with the condition.
• Blood Tests: Blood tests are used to measure the level of thyroid hormone in the blood. A low level of T4 (thyroxine) and high levels of TSH (thyroid-stimulating hormone) can indicate congenital nongoitrous hypothyroidism [6].
• Newborn Screening Test: Newborn screening test is a blood test performed on newborns to detect congenital hypothyroidism. If the heel-prick blood T4 level is low and the TSH is high, it may indicate congenital nongoitrous hypothyroidism [4].

These diagnostic tests help confirm the diagnosis of congenital nongoitrous hypothyroidism and guide further treatment.

References: [7] - A 22 gene panel that includes assessment of non-coding variants. [6] - Blood tests to measure T4 and TSH levels. [4] - Newborn screening test for congenital hypothyroidism.

Differential Diagnosis of Congenital Nongoitrous Hypothyroidism

Congenital nongoitrous hypothyroidism is a rare disorder that can be challenging to diagnose. The differential diagnosis involves distinguishing it from other conditions that may present with similar symptoms. Here are some key points to consider:

• Down's Syndrome: It may be difficult to distinguish a congenitally hypothyroid baby from a patient with Down's syndrome, as both conditions can present with similar physical and developmental characteristics.
• Other Congenital Endocrine Disorders: Congenital nongoitrous hypothyroidism should also be differentiated from other congenital endocrine disorders, such as congenital adrenal hyperplasia or congenital hypopituitarism.

Key Recommendations for Differential Diagnosis

According to the provided context [Boxes 1, 2, 3, and 4], here are some key recommendations for differential diagnosis:

• Raised Thyroid Hormones: Differentiate raised thyroid hormones from non-suppressed TSH.
• Diagnosis, Management, and Treatment: Consider the diagnosis, management, and treatment of each disorder.

Rarity and Prevalence

Congenital nongoitrous hypothyroidism is a rare disorder, with only 41 affected individuals reported to date [ORPHA: 566231]. This rarity can make differential diagnosis even more challenging.

Neurodevelopmental Consequences

If left undiagnosed and untreated, congenital hypothyroidism can have devastating neurodevelopmental consequences. Therefore, prompt and accurate differential diagnosis is crucial for preventing these outcomes.

References: [14] Boxes 1, 2, 3, and 4 summarise key recommendations for differential diagnosis of raised thyroid hormones and non-suppressed TSH as well as the diagnosis, management, and treatment of each disorder. [15] Congenital hypothyroidism occurs in approximately 1 in 2000 newborns and can have devastating neurodevelopmental consequences if not detected and treated promptly.