Case Report Article

A case of Adult onset Pseudohypoparathyroidism yet to be resolved: “No money no genetics”

Stavroula Koutroumpi, Theodora Stratigou, Aikaterini Skodra, Varvara Vlassopoulou, Georgios Ioannidis

• Department of Endocrinology, Diabetes and Metabolism, Evangelismos Hospital, Athens, Greece

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Keywords: Parathyroid hormone, Pseudohypoparathyroidism, Hypocalcemia, Hyperphosphatemia, GNAS

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Abstract

Pseudohypoparathyroidism (PHP) is a heterogeneous inherited disease characterized by unresponsiveness to parathyroid hormone (PTH) in its target organs. The constant finding in patients with PHP is hypocalcemia and hyperphosphatemia with elevated serum PTH levels. Several distinct entities cluster this disorder. PHP type 1 differs from PHP type 2 in that there is a reduced urinary cAMP excretion in response to administration of PTH. Here we report a young female with PHP at late-onset, yet to be differentiated between type 1b and type 2 due to economic struggles that most of our patients face now days. Despite the circumstances the patient was put on treatment since diagnosis with improvement of all biochemical parameters and amelioration of symptomatology. Further diagnostic testing will be held as soon as possible to meet the definitive diagnosis.

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