Prednisolone is associated with a worse bone mineral density in primary adrenal insufficiency.

Context: Patients with primary adrenal insufficiency (PAI) or congenital adrenal hyperplasia (CAH) receive life-long glucocorticoid (GC) therapy. Daily GC doses are often above the physiological cortisol production rate and can cause long-term morbidities such as osteoporosis. No prospective trial has investigated the long-term effect of different GC therapies on bone mineral density (BMD) in those patients.

Palliative treatment of uncontrollable hypercalcemia due to parathyrotoxicosis: denosumab as rescue therapy.

Unlabelled: Parathyroid carcinoma is a rare disease leading to severe hypercalcemia due to hyperparathyroidism. Surgery is the primary treatment option. A more progressive form of the disease is characterized by parathyrotoxicosis, and subsequent hypercalcemia is the most common cause of death.

Sexual well-being in adult male patients with congenital adrenal hyperplasia.

Introduction. Men with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency show impaired fecundity due to testicular adrenal rest tumors and/or suppression of the gonadal axis. Sexual well-being might be an additional factor; however, no data exists.

BclI polymorphism of the glucocorticoid receptor gene is associated with increased bone resorption in patients on glucocorticoid replacement therapy.

Context: Patients with primary adrenal insufficiency (PAI) and patients with congenital adrenal hyperplasia (CAH) receive weight-adapted standard glucocorticoid replacement therapy. Clinically, some patients appear more sensitive to therapeutic administration of glucocorticoids than others. Glucocorticoid sensitivity is at least partially genetically determined by polymorphisms of the glucocorticoid receptor (GR) and might influence bone mineral density (BMD).

Improvement of health-related quality of life in adult women with 21-hydroxylase deficiency over a seven-year period.

Health related quality of life (HRQoL) is impaired in adult patients with 21-hydroxylase deficiency (21-OHD). Up to now, only cross-sectional and no longitudinal studies are available. It is not known if HRQoL can be improved in adult 21-OHD patients.

Modified-release prednisone decreases complaints and fatigue compared to standard prednisolone in patients with adrenal insufficiency.

Patients with adrenal insufficiency (AI) receive first glucocorticoid replacement dose after waking, resulting in a 3-5 h delay compared to physiological secretion. Impaired quality of life (QoL) and fatigue might be due to this delayed dose scheme. Modified-release glucocorticoid preparations might have therapeutic advantages.

Bone mineral density is not significantly reduced in adult patients on low-dose glucocorticoid replacement therapy.

Context: Patients with primary adrenal insufficiency (PAI) and patients with congenital adrenal hyperplasia (CAH) receive glucocorticoid replacement therapy, which might cause osteoporosis.

Objectives: Questions addressed by this study were: 1) Is bone mineral density (BMD) reduced in PAI and CAH on lower glucocorticoid doses than previously reported? 2) Is BMD in PAI influenced by the type of glucocorticoid used? and 3) Does DHEA treatment affect BMD in PAI women?

Design And Patients: We conducted a prospective, cross-sectional study including 81 PAI patients and 41 CAH patients.

Main Outcome Measures: BMD was measured by dual-energy x-ray absorptiometry.

Novel PHEX nonsense mutation in a patient with X-linked hypophosphatemic rickets and review of current therapeutic regimens.

Introduction: The most common form of familial hypophosphatemic rickets is X-linked. PHEX has been identified as the gene defective in this phosphate wasting disorder leading to decreased renal phosphate reabsorption, hypophosphatemia and inappropriate concentrations of 1,25-dihydroxyvitamin D in regard to hypophosphatemia. Clinical manifestation are skeletal deformities, short stature, osteomalacia, dental abscesses, bone pain, and loss of hearing.

[Primary hyperparathyroidism].

Primary hyperparathyroidism is a common endocrine disease. Since introduction of automated routine measurement of serum calcium the detection of primary hyperparathyroidism has increased significantly. The classical symptoms such as kidney stones, gastrointestinal and bone manifestation are rarely seen nowadays.

Spinal cord atrophy in triple A syndrome associated with a novel compound heterozygous mutation.

A 38-year-old male patient was admitted with slowly progressive spastic gait disturbance. Imaging revealed general spinal cord atrophy. Because of adrenal insufficiency, alacrima and achalasia, triple A syndrome was suspected.

Delayed diagnosis of adrenal insufficiency is common: a cross-sectional study in 216 patients.

Introduction: Little information is available on patients with adrenal insufficiency (AI) in regard to complaints before diagnosis, time until correct diagnosis, false diagnosis, and professional changes due to the diagnosis.

Objective: We retrospectively evaluated circumstances before and at diagnosis of AI in patients with primary and secondary AI by using established Hospital Anxiety and Depression Scale, Short Form-36 and Giessen Complaint List (GBB-24) questionnaires, and a self-established general registration form.

Methods: In this cross-sectional study, questionnaire sets were available from 216 patients (primary AI, n = 99; secondary AI, n = 117).

Epidemiology of adrenal crisis in chronic adrenal insufficiency: the need for new prevention strategies.

Objective: Adrenal crisis (AC) is a life-threatening complication of adrenal insufficiency (AI). Here, we evaluated frequency, causes and risk factors of AC in patients with chronic AI.

Methods: In a cross-sectional study, 883 patients with AI were contacted by mail.

Frequent incidental discovery of phaeochromocytoma: data from a German cohort of 201 phaeochromocytoma.

Context: Adrenal and extra-adrenal phaeochromocytoma are chromaffin cell-derived tumours that are discovered due to classical symptom triad with headache, sweating and palpitations combined with persistent or paroxysmal hypertension. However, an increasing proportion of phaeochromocytoma seems to be discovered incidentally upon abdominal imaging.

Objective: To specify the exact circumstances of discovery of adrenal and extra-adrenal phaeochromocytoma.

Impaired subjective health status in chronic adrenal insufficiency: impact of different glucocorticoid replacement regimens.

Context: Recent studies have suggested that current glucocorticoid replacement therapies fail to fully restore well-being in patients with adrenal insufficiency (AI).

Objective: To investigate the effect of different glucocorticoid preparations used for replacement therapy on subjective health status (SHS) in AI.

Design And Patients: In a cross-sectional study, primary and secondary AI patients were contacted by mail.

[Long-term follow-up of patients with suprasellar germinomas].

Background: Suprasellar germinomas are rare intracranial neoplasms, which mainly occur in children and adolescents and manifest with endocrine symptoms and/or compression syndromes.

Patients And Methods: The clinical, hormonal and morphological findings as well as treatment and complications were investigated in seven patients (six male, one female) with germinomas.

Results: Mean age at diagnosis was 19.

Assessment of suspected insulinoma by 48-hour fasting test: a retrospective monocentric study of 23 cases.

Objective: Insulinoma causes fasting hypoglycaemia due to inappropriate insulin secretion. The diagnosis of insulinoma is based on Whipple's triad during a supervised fasting test. The aim of our study was to evaluate retrospectively the percentage of positive 48-hour fasting tests in a large series of patients with insulinoma.

Long-term management in five cases of TSH-secreting pituitary adenomas: a single center study and review of the literature.

Objective: TSH-secreting pituitary tumors (TSH-omas) are a rare cause of hyperthyroidism and account for <1% of all pituitary adenomas. Failure to recognize the presence of a TSH-oma may result in dramatic consequences such as thyroid ablation that may cause further growth in pituitary tumor. The primary goal of the treatment of TSH-omas is to remove the pituitary tumor.