Clinical presentaion of Pendred Syndrome

 MED-NERD

Clinical presentation of Pendred syndrome

Clinical Presentation:

-Thyroid abnormalities: Most cases of Pendred syndrome with thyroid involvement present with euthyroid goiter. Defect in organification of iodide can lead to enlargement of thyroid gland and goiter formation, however multinodular goiter may present later in childhood or early in puberty and even in adulthood. Goiter may be found in about 75% of Pendred syndrome cases. Most cases of goiter with Pendred syndrome are congenital with 50% having normal thyroid function which is known as subclinical hypothyroidism. With adequate iodine intake, most Pendred syndrome patients have normal thyroid gland size.


-Hearing loss: Hearing loss in Pendred syndrome ranges between mild to severe forms. It is mainly severe to profound and congenital but can progress later in infancy with increased impairment and worsening. It is mainly bilateral but asymmetrical forms may be present. Hearing impairment may be precipitated by trauma such as barotraumas, head injury, and acoustic traumas. A delay in language development and absence of a reaction to sound are examples of early signs of hearing impairment.


-Vestibular impairment: Vestibular problems may be noticed while performing motor skills or actions that require balance or during progressive hearing loss period. Temporal bone deformities may be present in some cases such as bilateral enlarged vestibular aqueduct with or without cochlear hypoplasia.


-Renal impairment: Pendred syndrome may be associated with renal imapirment leading to severe metabolic alkalosis and fatal acid-base imbalance.

Reference:

(1)Garabet Diramerian L, Ejaz S. Pendred Syndrome. 2022 Jun 27. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan–.
https://www.ncbi.nlm.nih.gov/books/NBK549839/
(2)Smith RJH, Iwasa Y, Schaefer AM. Pendred Syndrome / Nonsyndromic Enlarged Vestibular Aqueduct. 1998 Sep 28 [updated 2020 Jun 18]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023.
https://www.ncbi.nlm.nih.gov/books/NBK1467/
(3)Gettelfinger JD, Dahl JP. Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics. J Pediatr Genet. 2018 Mar;7(1):1-8.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5809162/
(4)Biggs K, Lovett A, Metcalfe C, Muzaffar J, Monksfield P, Bance M. Outcomes of Cochlear Implantation in Patients with Pendred syndrome: A Systematic Review and Narrative Synthesis. J Int Adv Otol. 2020 Dec;16(3):432-442.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7901456/
(5)Pendred Syndrome,NIH national institute on deafness Nd other communication disorders
https://www.nidcd.nih.gov/health/pendred-syndrome