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

[Primary lipodystrophies].

J Capeau1, J Magré, O Lascols

  • 1Inserm, U680, 75012 Paris, France. Jacqueline.Capeau@st-antoine.inserm.fr

Annales D'Endocrinologie
|February 27, 2007
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

Implementation of 3D printing technology for complex spine revision cases that require multilevel anterior spinal support: Over 5-year experience in six cases and costs assessment.

Brain & spine·2026
Same author

Deformable titanium for acetabular revision surgery: a proof of concept.

3D printing in medicine·2023
Same author

Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins).

Orphanet journal of rare diseases·2022
Same author

Comparison of HIV-Infected and Noninfected Patients Undergoing Bariatric Surgery: The ObeVIH Study.

Journal of acquired immune deficiency syndromes (1999)·2022
Same author

Ubiquitous atmospheric production of organic acids mediated by cloud droplets.

Nature·2021
Same author

[Management of fetal growth restriction in France: Survey of teaching hospitals and tertiary referral centers].

Gynecologie, obstetrique, fertilite & senologie·2021
Same journal

Corrigendum to 'Pink adipose tissue: A paradigm of adipose tissue plasticity' [Ann. Endocrinol. 85 (2004) 248-51].

Annales d'endocrinologie·2026
Same journal

Intraoperative location of parathyroid glands during total thyroidectomy: a systematic review of the literature according to the PRISMA method.

Annales d'endocrinologie·2026
Same journal

Clinical and genetic diagnosis of PHP1A associated with hypogonadism in a young male: A case report.

Annales d'endocrinologie·2026
Same journal

Autoimmune features in acquired generalized lipodystrophy and anti-perilipin 1 antibodies: A case report.

Annales d'endocrinologie·2026
Same journal

The diagnostic challenge of occult glucocorticoid exposure causing Cushing's syndrome.

Annales d'endocrinologie·2026
Same journal

ACTH-dependent Cushing's syndrome in MEN1: When multiple tumors complicate the diagnosis.

Annales d'endocrinologie·2026
See all related articles

Primary lipodystrophies are rare genetic or acquired disorders causing fat loss, leading to insulin resistance, diabetes, and cardiovascular risks. Early diagnosis and management of metabolic complications are crucial for patient outcomes.

Area of Science:

  • Endocrinology and Genetics: Focuses on rare metabolic disorders affecting adipose tissue distribution and function.

Context:

  • Primary lipodystrophies are rare, heterogeneous diseases characterized by generalized or localized fat loss (lipoatrophy).
  • These conditions are often associated with insulin resistance, acanthosis nigricans, hyperandrogenism, and dysmetabolic alterations including diabetes and hypertriglyceridemia.

Purpose:

  • To review the genetic basis, clinical manifestations, and management strategies for primary lipodystrophies.
  • To highlight the association between specific gene mutations (BSCL2, AGPAT2, LMNA, PPARG, ZMPSTE24, LMNB2) and different lipodystrophy subtypes.

Summary:

  • Genetic forms include Berardinelli-Seip syndrome (recessive mutations in BSCL2 or AGPAT2) and familial partial lipodystrophies (dominant mutations in LMNA or PPARG).
  • Acquired forms include Lawrence syndrome (unknown origin) and Barraquer-Simons syndrome (unknown origin, LMNB2 mutations as susceptibility factors).

Related Experiment Videos

  • Highly active antiretroviral therapy for HIV is a common cause of secondary lipodystrophy.

    • Impact:

    • Understanding the genetic and molecular underpinnings of lipodystrophies aids in diagnosis and potential therapeutic development.
    • Management focuses on treating metabolic complications like diabetes and dyslipidemia, with recombinant human leptin showing promise in specific cases.
    • Prognosis is significantly influenced by the early onset and severity of associated diabetic, cardiovascular, and hepatic complications.