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

[Generalized lipodistrophy (Berardinelli-Seip syndrome)].

F M Méndez Aparicio

    Anales Espanoles De Pediatria
    |January 1, 1975
    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

    [Hereditary fructose intolerance mimicking congenital atresia of the bile ducts].

    Anales espanoles de pediatria·1983
    Same author

    [Differential diagnosis between hereditary fructose intolerance and fructose-1,6-diphosphatase deficiency].

    Revista clinica espanola·1981
    Same author

    [The paradoxic behavior of the kidney in Bartter's syndrome and other processes].

    Revista clinica espanola·1980
    Same author

    [Glycogen storage disease by amylo 1,6-glucosidase deficiency (author's transl)].

    Anales espanoles de pediatria·1980
    Same author

    [Peripheral gangrene in a congenital sucrase isomaltase deficiency (author's transl)].

    Anales espanoles de pediatria·1980
    Same author

    [Infantile nephrotic cystinosis].

    Revista clinica espanola·1980
    Same journal

    [Sponsorship, authorship, and responsibility].

    Anales espanoles de pediatria·2005
    Same journal

    [Recurrent hematuria].

    Anales espanoles de pediatria·2002
    Same journal

    [Congenital hyperferritinemia and cataract syndrome].

    Anales espanoles de pediatria·2002
    Same journal

    [Renal angiomyolipoma: a case with a difficult diagnosis].

    Anales espanoles de pediatria·2002
    Same journal

    [Myocardial stunning].

    Anales espanoles de pediatria·2002
    Same journal

    [Exogenous surfactant. A rescue treatment in a neonate with varicella complicated with pneumonia].

    Anales espanoles de pediatria·2002
    See all related articles

    Berardinelli-Seip syndrome, a rare generalized lipodystrophy, presents with a complete lack of body fat and enlarged organs. Hormonal imbalances and a high sibling incidence suggest complex genetic and endocrine factors.

    Area of Science:

    • Endocrinology
    • Genetics
    • Rare Diseases

    Background:

    • Berardinelli-Seip syndrome, also known as generalized lipodystrophy, is characterized by a near-complete absence of adipose tissue.
    • Affected individuals often exhibit secondary complications including hepatosplenomegaly, muscular hypertrophy, and phlebomegaly.

    Purpose of the Study:

    • To present a case of Berardinelli-Seip syndrome.
    • To explore the potential pathogenesis of the syndrome based on hormonal investigations.
    • To highlight the familial occurrence of this rare disorder.

    Main Methods:

    • Clinical case presentation.
    • Hormonal level assessment including Somatotropic hormone (STH), Luteinizing hormone (LH), and plasma testosterone.
    • Review of clinical and familial data.

    Related Experiment Videos

    Main Results:

    • The presented case exhibited classic signs of generalized lipodystrophy.
    • Hormonal analysis revealed normal STH, but elevated LH and plasma testosterone levels.
    • A significant incidence of the disorder was observed among siblings.

    Conclusions:

    • The hormonal profile suggests a potential link between endocrine dysregulation and the pathogenesis of Berardinelli-Seip syndrome.
    • The high familial incidence underscores the likely genetic basis of the condition.
    • Further research is warranted to elucidate the specific genetic and hormonal mechanisms involved.