Introduction: Peutz-Jeghers syndrome (PJS) is a rare familial disorder with an incidence of one in 1230,000 live births characterized by mucocutaneous pigmentation, gastrointestinal and extra gastrointestinal hamartomatous polyps and an increased risk of malignancy.
Case presentation: We report a 22-year-old female hypothyroid since age of 4, type 1 diabetic since age of 11, who presented with melaena. Pigmentation of the buccal mucosa, multiple lipomatosis, vitamin D deficiency. Upper endoscopy, colonoscopy, enteroscope revealed multiple polyps. In stomach pyloric ring, rectum biopsy showing hamartomatous polyp.
Conclusion: A case of peutz Jeghers syndrome with multiple lipomatosis, she is type 1 diabetic with early childhood hypothyroidism, vitamin D deficiency. These combinations of different aetiologies in the same patient might raise the suspension of a new syndrome waiting for other observational studies.
Keywords: peutz-Jeghers syndrome; type 1 diabetes; hypothyroidism; multiple lipomatosis
27 Apr - 01 May 2013
European Society of Endocrinology