a 64-year-old male presented with neurofibromatosis 1 and cushing’s syndrome. clinically he was over weight, depressed with extensive skin bruising and hypertension. his 24 hours urinary metanephrines, urinary 5hiaa, gut peptides and chromgranin levels were normal. his renal function and renal mri scan was also normal. his cortisol failed to suppress on overnight dexamethsone suppression test. ...

An understanding of the genetic causes and molecular pathways of hereditary cancer syndromes has historically informed our knowledge and treatment of all types of cancers. For this review, we focus on three rare syndromes and their associated genetic mutations including BAP1, TP53, and SDHx (SDHA, SDHB, SDHC, SDHD, SDHAF2). BAP1 encodes an enzyme that catalyzes the removal of ubiquitin from pro...

PURPOSE Pediatric adrenocortical tumors (ACTs) are rare. We reviewed findings in 8 children, 18 years of age or younger, diagnosed with ACT in our institution over the past 15 years. METHODS We retrospectively reviewed 8 children with ACTs treated between 1996 and 2010. RESULTS Three girls and 5 boys were treated for ACTs; their median age at presentation was 144 months (range, 28 months to...

Certain inbred strains of mice, including DBA/2J, develop adrenocortical tumors in response to gonadectomy. Spindle-shaped cells with limited steroidogenic capacity, termed A cells, appear in the subcapsular region of the adrenal gland, followed by sex steroid-producing cells known as B cells. These changes result from unopposed gonadotropin production by the pituitary, but the adrenocortical f...

INTRODUCTION At times, it may be difficult to differentiate early stage, low-grade adrenocortical carcinoma from benign adrenal adenoma. CLINICAL PICTURE A 53-year-old lady underwent right adrenalectomy for a 4-cm adrenocortical tumour causing Cushing's syndrome. Histology revealed an adrenocortical adenoma. Sixteen years later, she presented with a 14-cm adrenal tumour, again on the right si...

The recovery of adrenocortical function during long-term corticosteroid treatment in a group of patients with asthmatic bronchitis was compared with that in a group of patients with sarcoidosis. At corresponding dosages of prednisone basal adrenocortical function as well as adrenocortical response to tetracosactrin stimulation was higher in the asthma patients than in those with sarcoidosis.The...

Since it is possible that adrenocortical hormones may be implicated in the regulation of calcium metabolism (see Hollinger and Pattee, 1956, for references) we considered that it would be of interest to gain some knowledge of the adrenocortical function of patients with idiopathic hypercalcaemia of infancy. We have investigated two such patients, one having a severe hypercalcaemic syndrome simi...

While the mechanisms of tumorigenesis for adrenocortical neoplasms remain unknown, several genes, such as Gsa, ACTH receptor (MC2-R), p53, and p16 tumor suppressor genes, are considered to be candidates for adrenocortical neoplasms. Mutation analysis studies have documented these genes in adrenocortical neoplasms, but these studies focused on the mutation of only one of these genes. In the pres...

To gain insight into the pathogenesis of adrenocortical carcinoma (ACC) and whether there is progression from normal-to-adenoma-to-carcinoma, we performed genome-wide gene expression, gene methylation, microRNA expression and comparative genomic hybridization (CGH) analysis in human adrenocortical tissue (normal, adrenocortical adenomas and ACC) samples. A pairwise comparison of normal, adrenoc...

We herein present a 60-year-old man with adrenocortical carcinoma who had gynecomastia. An endocrinological examination revealed increased levels of serum estradiol and dehydroepiandrosterone-sulfate (DHEA-S) and reduced levels of free testosterone. Magnetic resonance imaging showed an adrenal tumor with heterogeneous intensity. Iodine-131 adosterol scintigraphy showed an increased uptake at th...