Pendred Syndrome: A Case Report

author

  • Parviz Moazami
Abstract:

In this article Pendred's syndrome, which is the combination of - congenital goitre with deafmutism, is discussed. This type of goitre is due to a special enzymatic defect, involving  a process of hormonogenesis, which is respon-· sible for the incorporation of iodide in the tyrosine molecule.  A case of pendred's syndrome is presented  in a 16-year-old girl. This girl has never been able to hear or speak, and has showed symp­toms of hypothyroidism since :the age of 13.  The perchlorate test which is diagnostic and Pathognomonic for the disorder of the iodi­nation phase of the thyroid hoi·mone synthesis, was performed on this girl. The test revealed a result that was characteristic of the Pendred's syndrome. In addttion an audiogramm test showed an inability to percieve high tones. 

Upgrade to premium to download articles

Sign up to access the full text

Already have an account?login

similar resources

Sheehan Syndrome: A Case Report

'rwo cases of post-partum amenorrhea with other clinical signs of She1ehan syndrom was studied at the Loghmandoleh Medical Center, National University of Iran.  Clinical diagnosis was confirmed by appro­priate laboratory work -up in the f.irSlt case and the patient was placed on the conventional end orga.n hormon substitutional therapy (Thy­roid -Gonad -Adrenal) and was discharged in good cond...

full text

Apert Syndrome: A Case Report

Apert syndrome is a genetic defect which was first described by Eugene Apert in 1906. itchr('39')s incidence is approximately one in 50000 births. This syndrome is many abnormalities in your body and Central Nervous System. rehabilitation can increase children and their parentchr('39')s quality of life.We report a case of Apert syndrome and his occupational therapy program.

full text

Cogan’s Syndrome: A Case Report

full text

Proteus syndrome: A case report

The Proteus syndrome comprises an association of asymmetrical overgrowth of almost any part of the body, verrucous epidermal naevi, vascular malformations and lipoma-like subcutaneous hamartoma. Both sexes are affected with equal frequency and severity and it is not transmitted genetically. Here a 16-year-old man with asymmetric overgrowth of the extremities, macrodactyly, cerebriform hypertrop...

full text

Goltz syndrome: A case report

Goltz syndrome / Focal Dermal Hypoplasia (FDH) is a rare syndrome resulting from developmental defects in tissues with mesodermal origin such as eye, skin, mouth, muscoloskeletal, and central nervous system. We report a 13-year-old girl with FDH who had several features of skin, eye, and mouth involvement. She also had revurrent otitis media, which has not been reported so far.

full text

Cartagener Syndrome: A Case Report

This article has no abstract.

full text

My Resources

Save resource for easier access later

Save to my library Already added to my library

{@ msg_add @}


Journal title

volume 3  issue 3

pages  210- 216

publication date 1975-03

{@ msg @}

By following a journal you will be notified via email when a new issue of this journal is published.

Keywords

Hosted on Doprax cloud platform doprax.com

copyright © 2015-2023