Endocrinology & Metabolic Syndrome
Open Access
ISSN: 2161-1017
ISSN: 2161-1017
Mohamed Mansour
South Tees Hospital, NHS Foundation trust, United Kingdom
Scientific Tracks Abstracts: Endocrinol Metab Syndr
Introduction: Pheochromocytomas and paragangliomas are rare neuroendocrine tumors arising from the chromaffin cells of the adrenal medulla or extra-adrenal tissues. 10% to 20% of tumors are detected before age 18 years. Approximately 10%–15% of pheochromocytoma and 20%–50% of paraganglioma are malignant. Up to 24% of the cases are familial where they may be associated with genetic syndromes like MEN 2, succinate dehydrogenase subunit B (SDHB) gene mutations and VHL syndrome. SDHB is one of the four subunits of the SDH complex. Germline mutations in SDHB gene increase the risk of PGLs/ PHEOs and RCC with 38%-83% risk of malignancy. We represent a rare case of pheochromocytoma associated with SDHB mutation in a child. Case presentation: A 17-year old patient presented with repeated vomiting and hypertension. BMI was 14.4 kg/m2, BP was 140/112 mmgh, PR was127 peats/min. The rest of the clinical examination was unremarkable. Plasma and 24-hour urinary metanephrines levels were highly elevated together with Chromogranin A level. Abdominal CT and MRI scans revealed an enlarged right adrenal gland measuring approximately 45 mm, indenting but not invading the posterior aspect of the IVC. Management: Treatment was initiated with α-blockers; (Doxazosin then phenoxybenzamine); followed by β-blockers. The patient underwent laparoscopic right adrenalectomy. The tumor was 50 x 30 x 30 mm and weighting 58g. The tumor was positive with chromogranin, and S100. The PASS score was 2. Genetic mutation was detected at SDGB (c.72+1G�?A). Conclusion: We recommend genetic testing for all suspecting cases of PHEO/PGLs to establish the appropriate follow-up plan..
Mohamed Mansour is a General Surgery Registrar, in James Cool University Hospitals, in UK. He has done his Master’s degree in general surgery, from Cairo University, in Egypt. He has a Membership of the Royal College of Surgeons, MRCS, in England, Uk. He is also having a Fellowship of the American College of Surgeons, FACS, USA.