Endocrine Abstracts

Combined pituitary hormone deficiency (CPHD) denotes impaired production of growth hormone (GH) and of one or more other pituitary trophic hormones. Distinct subtypes of CPHD have been shown to be due to mutations in different homeobox transcription factors, which are involved in pituitary development and organogenesis. So far, only PROP-1 and HESX1 mutations have been associated with CPHD comprising corticotropin deficiency. Here we report two patients with a novel form of CP...

Background: Adrenal crises (AC) still occur even in educated patients with adrenal insufficiency. Identifying predisposing factors can improve risk assessment and facilitate prevention in this patient population.Objectives: Investigating clinical and biochemical fingerprints of increased susceptibility to AC.Material and methods: Our study population included 71 patients with adrenal insufficiency, classified in high and low risk a...

Objective: The major diagnostic problem in primary aldosteronism is the differentiation between bilateral hyperplasia and aldosterone producing adenoma which is essential for further treatment. Adrenal vein sampling is regarded as the current gold standard, however it is an invasive, highly examiner-dependent method. Molecular imaging targeting the aldosterone synthase (CYP11B2) which is expressed specifically in aldosterone producing adrenal tissue may be an useful alternativ...

Background: Adrenocortical carcinoma (ACC) is a rare solid tumor with poor prognosis in advanced stages. The adrenolytic drug mitotane and cytotoxic chemotherapies are current treatment options with limited clinical efficacy. Animal experiments pointed to an adrenotoxic effect of sunitinib suggesting potential antineoplastic activity in ACC.Study population: Thirty-eight patients with advanced ACC progressing after mitotane and 1–3 cytotoxic chemoth...

Objective: There is evidence that current replacement regimens fail to restore well-being in patients with primary adrenal insufficiency (PAI). Few data is available on QoL in adult male and female patients with CAH.Methods: Patients with CAH or PAI were contacted and received a disease specific questionnaire and three standardized questionnaires (SF-36, GBB-24 and HADS). Reference data for SF-36 scores were obtained from the German National Health Surve...

Objective: Local tumor recurrence is common in adrenocortical carcinoma (ACC) and the most frequent cause for re-operation. Therefore, a concept for an adjuvant treatment is urgently needed. The role of radiotherapy in ACC has not been well defined and many authors have considered radiotherapy as ineffective. However, two studies with a small number of patients (n=3 and n=4, resp.) have suggested adjuvant radiation as an effective treatment to prevent recurrence ...

A recent study has reported impaired subjective health status (SHS) in 79 patients with primary adrenal insufficiency (AI) despite routine steroid replacement1. Here we have performed a survey in a large cohort of patients with primary and secondary AI. 348 patients (148 outpatients and 200 registered participants of the self-help network for adrenal and pituitary diseases) were contacted by mail. 256 (74%) agreed to participate and received a disease specific and 3...

Treatment of adrenocortical carcinoma (ACC) is still unsatisfactory. As IGF-II and IGF-I receptor are frequently overexpressed in human ACC and inhibitors of the IGF system are currently under preclinical investigation, interference with IGF-signaling might have an additive effect in antitumour treatment. We have therefore analyzed several cytotoxic agents (etoposide, doxorubicine, cisplatin, streptocozin; 0.01–100 μM) on adrenal cell proliferation in vitro an...

To clarify the role of the pituitary in zebrafish interrenal development we investigated wildtype (wt) zebrafish and 3 pituitary mutants: aal (with lactotrophes only), and pit1 (with corticotrophes only), fgf3-lia (lacking all adenohypophyseal cell types) and in MC2R knockdown embryos (MC2R morphants).The interrenal primordium (IP) is detectable at 22hpf (hours post fertilization) as bilateral clusters of ff1b expressing cells which fuse to one domain at...

Background: Adrenal crisis (AC) is a life-threatening complication in patients with congenital adrenal hyperplasia due to classical 21-hydroxylase deficiency (21-OHD). AC was defined as an acute state of health impairment which required i.v. glucocorticoid administration and hospital admission. No data on AC over life-time in 21-OHD is available.Study design: In a retrospective study AC was studied following two approaches: a) questionnaire-based: 122 ad...