Overlap of Pseudohypoparathyroidism and Primary Hyperparathyroidism in a Patient: Just a Coincidence?
Ana Karena Neukirch, Christian Heckmann, Norbert Weyerbrock, Silke Günther, Cornelia Dotzenrath
Citation Information :
Neukirch AK, Heckmann C, Weyerbrock N, Günther S, Dotzenrath C. Overlap of Pseudohypoparathyroidism and Primary Hyperparathyroidism in a Patient: Just a Coincidence?. World J Endoc Surg 2011; 3 (3):128-130.
A 56-year-old female patient with the phenotype of Albright's hereditary osteodystrophy (AHO) and pseudohypoparathyroidism 1a (PHP) diagnosed in 1987 was shown to have a heterozygote inactivating mutation on the GNAS1 gene. The patient has been treated with oral calcium and vitamin D since diagnosis of PHP 1a and developed primary hyperparathyroidism (pHPT) in 2009. Ultrasound as well as 99Tcsestamibi could demonstrate a lesion in the right lower position. Intraoperatively, a solitary parathyroid adenoma was found and resected leading to a ‘normalization’ of PTH and calcium. This case highlight is the rare coincidence of PHP, AHO and pHPT.
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