Endocrine Abstracts

Von Hippel–Lindau (VHL) disease, attributable to germline mutations in the VHL gene on the short arm of chromosome 3 (3p25-26) is an inherited condition which can give rise to paragangliomas. We present a case of 47 year old gentleman with bilateral pheochromocytomas in the past resulting in both adrenalectomies as a child in the 1980. His routine follow up subsequently picked up elevated urine Normetanephrines at 14.3 µmol/24 h 25 years postoperatively. His CT abdo...

We present a case of a 24 year old lady with known SDHB mutation. She was referred from the genetics clinic in view of a strong family history of premature paraganglioma at the age of 17. On initial clinic assessment she exhibits no symptoms suggestive of paraganglioma or pheochromocytoma. Her blood pressure is normal at 120/75. pulse of 60–80bpm. Physical examination was unremarkable Her Plasma normetanephrine done on two separate occasion were elevated at 1600 pmol/l a...

Background: Recently, vitamin D has received an enormous attention, primarily at the public health level due to its numerous biological effects. It has been suggested that vitamin D deficiency may adversely affect blood pressure and the cardiovascular system. The aim of this project was to determine the possible effects and association between vitamin D intake, blood pressure, glucocorticoids and CVD risk factors.Methods: Two pilot studies have been carr...

Multiple endocrine neoplasia type 2A (MEN2A) is an inherited syndrome caused by the mutation of RET gene. The classic variant of this syndrome includes the presence of medullary thyroid carcinoma (MTC), in association with pheochromocytoma and parathyroid neoplasia. MTC is usually the first presentation, with palpable neck mass and hypercalcitonemia, metastatic spread to local lymph nodes or distant sites.We report the case of a 41 year old Caucasian man...

Insulin is a thyroid growth factor that stimulates proliferation of thyroid cells in culture. It has been observed that insulin receptors are over expressed in most thyroid tumors as an early step in thyroid carcinogenesis.Eighty women (mean age 36.85±4.71 years) were evaluated by a thyroid ultrasound (US), fasting plasma insulin and HOMA IR. Subjects were divided into four groups as follows: G1 (n: 24),subjects with IR and obesity; G2 (n<...

Background and aims: Previously we showed that the bioactive liquorice constituent glycyrrhetinic acid (GA) inhibits not only 11β-hydroxysteroid dehydrogenase enzymes but also the sulphation of corticosteroids by the enzyme sulphotransferase 2A1 (SULT2A1). Since pregnenolone, 17α-hydroxy-pregnenolone, deoxycorticosterone (DOC) and dehydroepiandrosterone (DHEA) are all prime substrates for SULT2A1, GA could have important effects in directing pathways of glucocorticoi...

Introduction: Adrenaleukodystrophy is an X linked disorder associated with functional defect of very long fatty acid (VLFCA) oxidation leading to accumulation of VLFCA in the white matter of brain and adrenal cortex. It usually presents with adrenal insufficiency and neurological problems and has association with other autoimmune conditions reported so far including vitiligo, ulcerative colitis. We report a case of adrenaleukodystrophy, vitiligo and hypothyroidism.<p class...

Objective: To evaluate the prevalence of the RET mutation and the genotype–phenotype relation in Saudi patients (families) with multiple endocrine neoplasia type 2A (MEN2A) or familial medullary thyroid carcinoma (FMTC).Design: Cross-sectional study.Patients and methods: A total of ten unrelated Saudi families with germline mutation of the RET protooncogene and/or immunohistochemistry diagnosis of MTC were identified. B...

Objective: To highlight that an occasional case of parathyroidectomy may be followed by protracted symptomatic hypocalcaemia requiring calcium infusion and high doses of vitamin D.Case: We report a 61 years male who presented with hypercalcaemia and brown tumour. He was diagnosed as a case of primary hyperparathyroidism. He had normal FBC, U&Es, LFT, TFT and negative Endomysial antibody. Just 4 days post-parathyroidectomy he was admitted with symptom...

Liquorice root has been used medicinally for many years to treat dry cough, asthma, hunger, thirst, sterility of women, fever, digestive problems and pathologies of organs such as lungs, stomach, intestines and kidney. Glycyrrhetinic acid (one of the active constituents in liquorice) has diverse in vitro effects as an inhibitor of 11β hydroxysteroid dehydrogenase (11HSD), 5α reductase and hormone receptor binding. The aim of this study is to investigate the ef...