Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Pendred's syndrome.

M I Babar Hashmi1, Muhammad Jahangir Khan, Nadeem Abbasi

  • 1Department of Paediatrics, Sheikh Zayed Hospital, Rahim Yar Khan, Pakistan. szhlil@hotmail.com

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
|August 19, 2003
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Finite element analysis of cross fluid model over a vertical disk suspended to a tetra hybrid nanoparticles mixture.

Scientific reports·2024
Same author

Entropy analysis of MHD hybrid nanoparticles with OHAM considering viscous dissipation and thermal radiation.

Scientific reports·2024
Same author

Author Correction: Utilization of Galerkin finite element strategy to investigate comparison performance among two hybrid nanofluid models.

Scientific reports·2023
Same author

Thermal and solute aspects among two viscosity models in synovial fluid inserting suspension of tri and hybrid nanomaterial using finite element procedure.

Scientific reports·2022
Same author

Utilization of Galerkin finite element strategy to investigate comparison performance among two hybrid nanofluid models.

Scientific reports·2022
Same author

A dynamic assessment of various non-Newtonian models for ternary hybrid nanomaterial involving partially ionized mechanism.

Scientific reports·2022
Same journal

Cerebral Cysticercosis Manifesting 20 Years after Primary Cutaneous Disease.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP·2026
Same journal

Primary Leiomyosarcoma of the Pancreas with Liver Metastasis: Challenges and Possible Treatment Approaches.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP·2026
Same journal

Rising Trend of Cancer in Pakistan: An Urgent Call for Action.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP·2026
Same journal

Conflicting Roles of Urotensin II in Chronic Kidney Disease: Insights from Clinical and Mechanistic Studies.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP·2026
Same journal

Invasive Fibromatosis Adjacent to the Twelfth Thoracic Vertebra and Involving the Oesophagus.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP·2026
Same journal

Low-Density Lipoprotein Cholesterol Rebound: Rethinking Appendectomy in Coronary Heart Disease.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP·2026
See all related articles

Pendred syndrome, a rare genetic disorder, was identified in three siblings presenting with congenital hearing loss and goiters. Diagnostic tests confirmed the condition, highlighting the need for careful evaluation of such rare diseases.

Area of Science:

  • Genetics
  • Endocrinology
  • Otolaryngology

Background:

  • Pendred syndrome is an autosomal recessive disorder often associated with congenital hearing loss and thyroid dysfunction.
  • Consanguineous marriages increase the risk of recessive genetic disorders.
  • Early diagnosis is crucial for managing associated symptoms and potential complications.

Observation:

  • Three siblings from a consanguineous family in Rahim YarKhan presented with deafmutism and goiters.
  • Clinical examination revealed enlarged thyroid glands (goiters) and profound hearing impairment.
  • Diagnostic investigations included scintigraphy, perchlorate discharge testing, and audiometry.

Findings:

  • The perchlorate discharge test was positive in the index case, indicating impaired iodide organification.

Related Experiment Videos

  • Audiometry revealed a bilateral sensorineural hearing defect, consistent with cochlear dysfunction.
  • The clinical presentation and diagnostic results strongly suggested Pendred syndrome.

    • Implications:

    • This case report underscores the importance of thorough clinical and laboratory evaluation for diagnosing rare genetic disorders like Pendred syndrome.
    • Identifying Pendred syndrome allows for appropriate audiological management and monitoring of thyroid function.
    • Increased awareness and diagnostic vigilance are essential for detecting rare conditions in consanguineous populations.