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

Alstrom syndrome in two siblings.

Y J Hung1, C Jeng, D Pei

  • 1Division of Endocrinology and Metabolism, Department of Internal Medicine, Tri-Service General Hospital, National Defense Medical Center, No. 8, Sec. 3, Ting-Chow Road, Taipei, Taiwan.

Journal of the Formosan Medical Association = Taiwan Yi Zhi
|March 27, 2001
PubMed
Summary

Alstrom syndrome, a rare genetic disorder, causes obesity, vision loss, hearing impairment, and diabetes. This report details two siblings with Alstrom syndrome, highlighting their severe insulin resistance and endocrine dysfunction.

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

Role of molecular driver mutations in recurrence of early-stage laryngeal cancer following narrow field definitive radiotherapy.

Oral oncology reports·2026
Same author

Band-selective Holstein polaron in Luttinger liquid material A<sub>0.3</sub>MoO<sub>3</sub> (A = K, Rb).

Nature communications·2021
Same author

Exosomal lncRNA FOXD3-AS1 upregulates ELAVL1 expression and activates PI3K/Akt pathway to enhance lung cancer cell proliferation, invasion, and 5-fluorouracil resistance.

Acta biochimica et biophysica Sinica·2021
Same author

Endophytic Bacillus subtilis P10 from Prunus cerasifera as a biocontrol agent against tomato Verticillium wilt.

Brazilian journal of biology = Revista brasleira de biologia·2021
Same author

Observation of topological superconductivity in a stoichiometric transition metal dichalcogenide 2M-WS<sub>2</sub>.

Nature communications·2021
Same author

Determination of interatomic coupling between two-dimensional crystals using angle-resolved photoemission spectroscopy.

Nature communications·2020

Area of Science:

  • Genetics
  • Endocrinology
  • Ophthalmology

Background:

  • Alstrom syndrome is an extremely rare autosomal recessive inherited disorder, with only 50 cases reported since 1959.
  • It is characterized by a complex phenotype including obesity, insulin resistance, retinal degeneration, neurosensory deafness, hepatic dysfunction, and endocrine disorders.

Observation:

  • A 12-year-old girl presented with progressive vision loss since age 6, diagnosed with diabetes mellitus and acanthosis nigricans at age 12.
  • Her 10-year-old brother exhibited similar symptoms.
  • Both siblings showed retinal degeneration and moderate sensorineural hearing loss via electroretinography and audiometry.

Findings:

  • Biochemical tests and oral glucose tolerance tests revealed diabetes mellitus, dyslipidemia, and hepatic dysfunction in the index case.

Related Experiment Videos

  • Elevated insulin, C-peptide, and leptin concentrations were observed in both siblings.
  • The modified insulin suppression test confirmed significant insulin resistance in both siblings.

    • Implications:

    • This case report underscores the severe metabolic and endocrine complications associated with Alstrom syndrome, particularly profound insulin resistance.
    • Early diagnosis and comprehensive management are crucial for patients with Alstrom syndrome to address multi-systemic involvement.
    • Further research into the pathophysiology of insulin resistance in Alstrom syndrome may offer insights into broader metabolic disease mechanisms.