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Pendred Syndrome

ICD-10 Codes

Related ICD-10:

Description

Pendred Syndrome: A Rare Genetic Disorder

Pendred syndrome is a rare genetic disorder that affects the thyroid gland and causes early hearing loss in children, as well as problems with the thyroid gland [1]. It is an autosomal recessive disorder, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition [6].

Key Features:

  • Hearing Loss: Pendred syndrome typically causes permanent hearing loss in both ears, often at birth or within the first few years of life [3][5].
  • Thyroid Condition: The disorder is also associated with a thyroid condition called a goiter, which is an enlargement of the thyroid gland [2][7].
  • Sensorineural Deafness: Pendred syndrome is characterized by sensorineural deafness, which affects the inner ear and can lead to permanent hearing loss [5][6].

Other Characteristics:

  • The disorder is clinically variable, meaning that its symptoms can vary in severity and presentation from person to person [5].
  • Goiter is often euthyroid, meaning that it does not cause an overproduction or underproduction of thyroid hormones [8].

References: [1] Mar 6, 2017 - Pendred syndrome is a genetic disorder that affects the thyroid gland and causes early hearing loss in children... [2] Mar 1, 2016 - Pendred syndrome is a disorder typically associated with

Additional Characteristics

  • Hearing Loss
  • Thyroid Condition
  • Sensorineural Deafness

Signs and Symptoms

Early Signs and Symptoms of Pendred Syndrome

Pendred syndrome is characterized by early hearing loss in children, which can range from mild to severe. The symptoms of this genetic disorder can be identified through various signs and tests.

  • Hearing Loss: One of the primary symptoms of Pendred syndrome is sensorineural hearing loss, which can occur at birth or develop later in childhood [1]. This type of hearing loss affects the inner ear's ability to convert sound vibrations into electrical signals that are transmitted to the brain.
  • Goiter: A goiter, an enlargement of the thyroid gland, is another common symptom associated with Pendred syndrome [3][7]. This can be detected through physical examination or imaging tests like ultrasound.
  • Prelingual Sensorineural Deafness: The main presenting clinical sign of Pendred syndrome is prelingual sensorineural deafness, which means that the hearing loss occurs before a child starts speaking [6].
  • Malformation of Inner Ear Bones: In some cases, Pendred syndrome can cause malformation of the bones in the inner ear, leading to severe to profound sensorineural hearing loss [9].

Early Warning Signs

Parents and caregivers should be aware of the following early warning signs that may indicate Pendred syndrome:

  • A baby who doesn't startle when they hear a loud noise
  • A baby who doesn't respond when you say their name or make eye contact
  • Delayed speech development

It's essential to consult with a healthcare professional if any of these symptoms are observed, as early diagnosis and intervention can significantly impact the child's quality of life.

References: [1] - Context 2: Aug 14, 2024 [3] - Context 3: Mar 1, 2016 [7] - Context 7: Mar 1, 2016 [6] - Context 6 [9] - Context 9: Feb 5, 2021

Additional Symptoms

  • Goiter
  • Hearing Loss
  • Malformation of Inner Ear Bones
  • deafness

Diagnostic Tests

Pendred syndrome can be diagnosed through various tests, which are designed to detect the genetic mutation responsible for the condition.

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Additional Diagnostic Tests

  • Genetic testing
  • DNA sequencing

Treatment

Managing Symptoms of Pendred Syndrome

Pendred syndrome, a genetic disorder affecting hearing and thyroid function, requires comprehensive management to alleviate symptoms. While there is no cure for the condition, various treatments can help mitigate its effects.

  • Thyroid Hormone Supplements: Patients with Pendred syndrome often experience abnormal thyroid function. Supplementing with thyroid hormone can help regulate this condition ([2], [5]).
  • Hearing Aids and Assistive Devices: As hearing loss is a common symptom of Pendred syndrome, using hearing aids or other assistive devices can significantly improve communication and quality of life ([1], [6]).
  • Vertigo Treatment: Anticholinergics or benzodiazepines may be prescribed to alleviate vertigo symptoms associated with the condition ([5]).
  • Low-Dose Rapamycin Therapy: Research suggests that low-dose rapamycin therapy might relieve symptoms without immunosuppressive effects, although further studies are needed ([3], [8]).

Standard Therapy for Abnormal Thyroid Function

Abnormal thyroid function should be treated with standard therapy to prevent complications. This may involve monitoring and adjusting hormone levels as necessary.

Managing Hearing Loss and Thyroid Hormone Supplementation

Treatment for Pendred syndrome primarily focuses on managing hearing loss and providing thyroid hormone supplementation if necessary ([9]). A multidisciplinary team can help patients make informed decisions about their treatment options.

References:

[1] Mar 6, 2017 - Pendred syndrome isn't curable, but a medical team will work together to encourage informed choices about treatment options. [2] Oct 5, 2022 - There is no specific treatment, but the symptoms can be managed with thyroid hormone supplements and hearing aids. [3] Dec 17, 2018 - Our result suggest that low-dose rapamycin therapy may relieve the symptoms of Pendred syndrome without the accompanying immunosuppressive effects. [5] by V Kao โ€” Treatments for other effects of Pendred Syndrome include anticholinergics or benzodiazepines to treat vertigo and levothyroxine for hypothyroidism. [6] Abnormal thyroid function should be treated with standard therapy. Prognosis. Patients with PDS may have progressive hearing loss, although it is not yet ... [8] by M Hosoya ยท 2019 ยท Cited by 30 โ€” rapamycin therapy may relieve the symptoms of Pendred syndrome without the accompanying immunosuppressive effects, although the concept should be. [9] Treatment involves managing hearing loss and providing thyroid hormone supplementation if necessary. Pendred syndrome is named after Vaughan Pendred and ...

Recommended Medications

  • Hearing Aids and Assistive Devices
  • Vertigo Treatment (Anticholinergics or benzodiazepines)
  • Low-Dose Rapamycin Therapy
  • thyroid hormone

๐Ÿ’Š Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.

Differential Diagnosis

Pendred syndrome is a genetic disorder that can be challenging to diagnose, as it shares similar symptoms with other conditions. A differential diagnosis is essential to rule out other possible causes and confirm the presence of Pendred syndrome.

According to medical literature [1], the differential diagnosis for Pendred syndrome includes:

  • Congenital cytomegaloviral infection (cCMV)
  • BOR syndrome
  • Deafness at the DFNX2 locus (POU3F4)

These conditions can present with similar symptoms, such as hearing loss and goiter. However, a detailed clinical, radiologic, and molecular analysis is necessary to confirm the diagnosis of Pendred syndrome [2].

A study published in 2009 highlights the importance of differential diagnosis in identifying genetic syndromes associated with goiter and deafness, including Pendred syndrome [3]. The authors emphasize that a thorough evaluation is required to distinguish between these conditions.

In addition, genetic testing can confirm the diagnosis of Pendred syndrome by detecting the mutation on the SLC26A4 gene [4].

It's essential for healthcare professionals to consider these differential diagnoses when evaluating patients with symptoms suggestive of Pendred syndrome. A comprehensive approach, including clinical evaluation, radiologic imaging, and molecular analysis, is necessary to accurately diagnose this condition.

References:

[1] The differential diagnosis includes congenital cytomegaloviral infection (cCMV), BOR syndrome, and deafness at the DFNX2 locus (POU3F4). Antenatal diagnosis. [Context 3]

[2] In the present study, we performed a detailed clinical, radiologic, and molecular analysis of six families presenting with clinical diagnosis of Pendred ... [Context 4]

[3] Goiter and deafness can be associated in some genetic syndromes, eg Pendred syndrome (PS) and resistance to thyroid hormone (RTH). [Context 8]

[4] Genetic testing: Blood tests that detect the mutation on the SLC26A4 gene can confirm a diagnosis. [Context 6]

Additional Information

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It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.