Endocrine Abstracts (2013) 32 P507 | DOI: 10.1530/endoabs.32.P507

Peutz Jegher syndrome with multiple endocrinal failures

Randa Abdo1, Heba Sherif1, Ali Farag2, Mohamed Nadi2 & Inas Darwoish3

1Endocrinology Departement, Cairo University, Cairo, Egypt; 2Hepatology Gastroentrology Departement, Cairo University, Cairo, Egypt; 3Internal Medicine Departement, Cairo university, Cairo, Egypt.

Introduction: Peutz-Jeghers syndrome (PJS) is a rare familial disorder with an incidence of one in 12–30,000 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

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