Ossifications in Albright Hereditary Osteodystrophy.


eMediNexus    31 October 2017

A new study published in The Journal of Clinical Endocrinology and Metabolism investigated the previously undetermined prevalence of subcutaneous ossifications SCO formation in pseudohypoparathyroidism type 1A PHP1A versus pseudopseudohypoparathyroidism PPHP as well as possible correlations with genotype sex age hormonal resistance and body mass index BMI . This study evaluated 67 AHO patients for SCO with documented mutations in GNAS responsible for Albright hereditary osteodystrophy by physical examination performed by one consistent physician over sixteen years. The findings revealed that 70.1 participants had SCO. Additionally PHP1A and PPHP subjects had similar prevalences and degrees of ossification formation. On the other hand subjects with frameshift and nonsense mutations had much more extensive SCO than those with missense mutations. While males were affected more than females there was no correlation with hormonal status or BMI. Hence it was inferred that there is a similar prevalence of SCO in PHP1A and PPHP and the extent of SCO formation correlates with the severity of the mutation. It was stated that males are affected more extensively than females and the SCO tend to worsen with age.

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