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

Albright's hereditary osteodystrophy.

B Boscherini, G Coen, G Bianchini

    Acta Paediatrica Scandinavica
    |May 1, 1980
    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

    The role of the 21-gene assay in the neoadjuvant setting for hormone receptor-positive HER2-negative breast cancer: Impact on systemic and surgical treatment decisions.

    Cancer treatment reviews·2026
    Same author

    Longitudinal transcriptomic profiling identifies predictors of response to neoadjuvant chemoimmunotherapy in triple-negative breast cancer: results from the NeoTRIPaPDL1 trial.

    Annals of oncology : official journal of the European Society for Medical Oncology·2026
    Same author

    Protected areas influence fire regimes globally.

    Journal of environmental management·2026
    Same author

    Association between type and location of germline BRCA1/2 pathogenic or likely pathogenic variants with phenotype and prognosis in young patients with breast cancer: results from an international cohort study.

    Annals of oncology : official journal of the European Society for Medical Oncology·2025
    Same author

    Patient-reported outcomes in the SERENA-6 trial of camizestrant plus CDK4/6 inhibitor in patients with advanced breast cancer and emergent ESR1 mutations during first-line endocrine-based therapy.

    Annals of oncology : official journal of the European Society for Medical Oncology·2025
    Same author

    Most Stringent Bound on Electron Neutrino Mass Obtained with a Scalable Low-Temperature Microcalorimeter Array.

    Physical review letters·2025
    Same journal

    Atrial natriuretic peptide and renin-aldosterone relationship in healthy newborn infants.

    Acta paediatrica Scandinavica·1991
    Same journal

    Adult panhypopituritarism presenting as idiopathic growth hormone deficiency in childhood: really idiopathic?

    Acta paediatrica Scandinavica·1991
    Same journal

    Growth hormone therapy and final height in girls with Turner's syndrome.

    Acta paediatrica Scandinavica·1991
    Same journal

    Mineral metabolism in obese children.

    Acta paediatrica Scandinavica·1991
    Same journal

    Sex differences in vulnerability?

    Acta paediatrica Scandinavica·1991
    Same journal

    Idiopathic dilatation of the aorta with dissection in a family without Marfan syndrome.

    Acta paediatrica Scandinavica·1991
    See all related articles

    Albright's hereditary osteodystrophy presents a wide spectrum of clinical and biochemical variations. These findings suggest that rigid distinctions between pseudohypoparathyroidism types may not be clinically necessary.

    Area of Science:

    • Endocrinology
    • Genetics
    • Skeletal Dysplasias

    Background:

    • Albright's hereditary osteodystrophy (AHO) is a genetic disorder characterized by a range of clinical manifestations.
    • Previous classifications have distinguished between different types of pseudohypoparathyroidism (PHP) based on biochemical and clinical findings.

    Purpose of the Study:

    • To investigate the clinical and biochemical variability of Albright's hereditary osteodystrophy within a single family across three generations.
    • To evaluate the spectrum of AHO and the validity of strict classifications of pseudohypoparathyroidism.

    Main Methods:

    • Clinical examination of four family members (two sisters, mother, maternal grandfather).
    • Assessment of clinical features including short stature, subcutaneous calcifications, and biochemical parameters related to pseudohypoparathyroidism.

    Related Experiment Videos

  • Family-based case study analysis.

    • Main Results:

    • Observed diverse clinical presentations of AHO, including pseudohypoparathyroidism type I (hypocalcemic and normocalcemic varieties) in the sisters.
    • Identified isolated features such as short stature and subcutaneous calcifications in the mother and maternal grandfather.
    • Demonstrated significant clinical and biochemical heterogeneity within the family.

    Conclusions:

    • Albright's hereditary osteodystrophy exhibits a broad clinical and biochemical spectrum.
    • Rigid distinctions between different forms of pseudohypoparathyroidism may not accurately reflect the underlying genetic and clinical variability.
    • The study supports a more inclusive understanding of AHO phenotypes.