Endocrine Abstracts

A 14 year old girl was referred with a diagnosis, made at birth, of congenital adrenal hyperplasia. She had undergone clitoral reduction and vulvovaginoplasty at age 2. Her height had been on 10th-25 th centile, and, at presentation to us, she was taking prednisolone (7.5milligrams in divided doses) and fludrocortisone 0.05 milligrams. At age 14 her height dropped to the 3 rd centile. She was hirsute, obese and had abdominal striae. A variety of steroid regimes only led to an ...

Fifty patients (male:female 23:27) with a phaeochromocytoma or paraganglionoma have been seen within the Oxford hospitals since 1985. Further information has been located on 48. Patients had a median age of 42.6 years (range 19.4-74.6) and a median follow up of 13.9 months postoperatively (range 0.6-146.3). The adenoma was unilateral in 44 cases (88%, left 20, right 22) and bilateral in 4 cases (8% 2 Von Hippel-Lindau disease (VHL) 1 Neurofibromatosis type 1 (NF1) 1 Sporadic)....

There have been few reports of long term remission rates after transsphenoidal surgery for Cushing's disease which incorporate both initial failure rates and later relapse rates. We have studied this in patients diagnosed and treated between 1979 and 2000. An early post-operative 0800h serum cortisol was measured 24h after the last dose of hydrocortisone, in addition to a low dose dexamethasone suppression test. Of the initial 63 patients, 18 did not achieve remission after su...

Background: Chronic opioid use may lead to adrenal insufficiency (AI) due to suppression of the hypothalamic-pituitary-adrenal axis. We aimed to determine incidence of AI and mortality in patients treated with chronic opioid therapy in a standardized geographically well-defined population.Methods: In this population-based cohort study we assessed the standardized incidence rate of first time met chronic opioid use and adrenal insufficiency in adult resid...

Introduction: Profound thyrotoxicosis commonly presents with heat intolerance, sweating, weight loss, palpitations, tremor, goitre and eye signs in the case of Grave’s disease. Typically, thyroid storm is differentiated by marked volume depletion, congestive cardiac failure, cardiac arrhythmias, confusion, nausea and vomiting, often with extreme agitation. The wide-ranging and systemic manifestations associated with profound hyperthyroidism are mediated through the thyroi...

Introduction: Osilodrostat is a potent oral 11β-hydroxylase inhibitor currently in Phase III clinical development for the treatment of Cushing’s syndrome (CS). The key pharmacokinetic (PK) properties, drug–drug interactions (DDIs), and population PK findings for osilodrostat in humans are summarized.Methods: Osilodrostat PK has been characterized in nine Phase I studies (healthy subjects and subjects with hepatic or renal impairment), two ...

Pituitary adenomas (PAs) are benign neoplasms that comprise 10–20% of all intracranial tumors. Mutations in the aryl hydrocarbon receptor interacting protein (AIP) have been identified to cause a small subset of hereditary PAs. To study the mechanisms of tumor formation in patients with AIP-mutated PAs we conducted a miRNA array analysis comparing AIP-mutated PAs with AIP-wild type PAs. We found a novel and specific set of miRNAs differentially expressed between the two g...

Introduction: Rats carrying a germline loss-of-function mutation in p27 (MENX syndrome) develop bilateral pheochromcoytoma (PCC) with complete penetrance. Gene expression profiling of rat PCCs identified genes highly expressed in tumors vs normal adrenal medulla. Several of them were found up-regulated also in human PCCs (both sporadic and familial), including the BMP7 gene encoding a member of the bone morphogenic protein family. BMP7 has been shown to be involved in other hu...

20% of cases of FIPA have AIP gene mutations. These adenomas are often large and invasive. Our index case presented aged 13 with pituitary apoplexy. Histology showed necrotic tissue. He continued to grow and was 195 cm 4 y later. GH excess was confirmed. After treatment with octreotide and radiotherapy remission was achieved. His first cousin had also been successfully treated for acromegaly. This led to the original familial diagnosis. Subsequently, the c.910C>T, p.R304X ...

It is recommended that all patients with PA who are suitable for surgery should undergo adrenal CT and AVS unless there is a large unilateral adenoma with a completely normal contralateral gland. We reviewed 100 patients diagnosed with PA. AVS was performed in 93. Different lateralisation criteria for AVS were assessed using ROC curve analysis to determine the optimal one for identifying an adenoma. We reviewed the outcomes of adrenalectomy evaluating which pre-operative chara...