A 23-year-old female presents to her GP with a 3-month history of tiredness, abdominal pain and constipation. | Medibuddy
4th April 2024

A 23-year-old female presents to her GP with a 3-month history of tiredness, abdominal pain and constipation.

A 23-year-old female presents to her GP with a 3-month history of tiredness, abdominal pain and constipation. When asked about family history, she states she is adopted, but there was a genetic condition in her biological family. On examination, you find that there is partial blindness affecting the peripheral fields. Bloods reveal the following:

Calcium (2.1 – 2.6 mmol/L) 2.84
Phosphate (0.8-1.4 mmol/L) 0.75
Parathyroid hormone Raised

Which of the following is the most likely diagnosis? 

Select the SINGLE most appropriate option from the list below. Select ONE option only.

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