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The aim of this study was to review the literature published and the most important papers presented to meetings on Cushing's disease from October 2011 to September 2012. The selection has been performed according to the authors' criteria. Articles have been classified into five groups: quality of life and perception of the disease, clinical features and pathophysiology, comorbidity conditions, diagnosis, and treatment. The results and conclusions of each publication are discussed., (Copyright © 2013 SEEN. Published by Elsevier Espana. All rights reserved.)

There is no consensus on the remission criteria for Cushing's disease or on the definition of disease recurrence after transsphenoidal surgery, and comparison of the different published series is therefore difficult. A long-term recurrence rate of Cushing's disease ranging from 2%-25% has been reported. Predictors of long-term remission reported include: 1) adenoma-related factors (aggressiveness, size, preoperative identification in MRI), 2) surgery-related factors, mainly neurosurgeon experience, 3) clinical factors, of which dependence on and duration of glucocorticoid treatment are most important, and 4) biochemical factors. Among the latter, low postoperative cortisol levels, less than 2 mcg/dL predict for disease remission. However, even when undetectable plasma cortisol levels are present, long-term recurrence may still occur and lifetime follow-up is required. We report the preliminary results of the first 20 patients with Cushing's disease operated on at our hospital using nadir cortisol levels less than 2 mcg/dl as remission criterion., (Copyright © 2012 SEEN. Published by Elsevier Espana. All rights reserved.)

Introduction: We analysed a large sample of children diagnosed with urinary tract malformations and/or infections and calculated diagnostic efficiency and quality indexes for five different functional markers, with the goal of testing which is the most sensitive for detecting a loss of renal parenchyma., Patients and Method: Ours was a cross-sectional retrospective study in which the clinical histories of 179 paediatric patients (91 male and 88 female) were evaluated. In 102 of these patients (57%), a scintigraphy revealed loss of parenchyma. The most commonly observed morphological type of damage was renal scarring. All patients had undergone at least one desmopressin urine concentration test. We also analysed albumin/creatinine and N-acetyl-glucosaminidase (NAG)/creatinine ratios, glomerular filtration rate (GFR), and urine volume., Results: By distributing patients according to normal/abnormal scintigraphy, we observed statistically significant differences between the two groups in maximum urine osmolality and GFR. Urine volume was elevated in 31.3% of cases (sensitivity: 37.9%; specificity: 81.8%) and 24% had a defect in renal concentrating ability (sensitivity: 30.4%; specificity: 84.8%). Urinary albumin excretion was high in 12.2% of patients, and 7.2% had a high NAG/creatinine ratio. GFR was low in only 5.7% of patients. These last two markers were the least sensitive but most specific for detecting a loss of renal parenchyma (100%)., Conclusions: In our study, the most sensitive functional tests for detecting the loss of renal parenchyma were the two that take into account the ability of the kidney to manage water, i.e. urine volume and maximum urine osmolality. These two tests had specificity >80%. However, the maximum specificity was obtained by the NAG/creatinine ratio and GFR, which were, conversely, the least sensitive tests. A normal GFR does not necessarily show normal renal function.

Introduction: Pyelectasis can be defined as mild to moderate dilatation of the urinary tract and is diagnosed by means of an ultrasound scan (0.5-2cm transverse diameter in the initial ultrasound performed after birth). There is some disagreement about whether cystography should be indicated as standard practice. The aim of this study was to establish if renal function tests are useful in determining which cases of mild to moderate dilatation of the urinary tract do not require an initial cystography., Patients and Methods: The study was conducted on 79 infants (57 males, 22 females) with pyelectasis. Seventy-three were diagnosed in utero and 6 after birth. All infants underwent at least one cystography and one desmopressin urine concentration test before one year of age., Results: Compared to infants without vesicoureteral reflux (VUR) (n=68), infants with VUR (n=11; two with Grade I, three with Grade II, five with Grade III, two with Grade IV) showed a significantly lower (P=.006) maximum urine osmolality and a significantly higher microalbumin/creatinine ratio (P<.001) and NAG/creatinine ratio (P=.003). The negative predictive value of the first two tests was 93%. Sensitivity of the maximum urine osmolality to detect VUR was 72.7% (specificity 63.2%). Sensitivity of the microalbumin/creatinine ratio to detect VUR was 62.5% (specificity 75%). The positive probability ratio (PR) was 1.29 for the NAG/creatinine ratio, 2.03 for the maximum urine osmolality and 2.5 for the microalbumin/creatinine ratio. The negative PR was 0.95 for the NAG/creatinine ratio, 0.43 for the maximum urine osmolality and 0.5 for the microalbumin/creatinine ratio., Conclusions: Pyelectasis is a benign condition. Only 2 patients required pharmacological intervention (prophylactic treatment for VUR Grade IV patients). Initially at least, cystography should not be indicated in cases of microalbuminuria and/or normal urine concentrations.

Because of the variability in the clinical expression of Cushing's syndrome, different biochemical tests and imaging techniques must be used for effective diagnosis and treatment. The clinical history is important to assess the general impact of hypercortisolism on organs and systems, as well as to guide suspicion toward more aggressive entities such as overt ectopic ACTH syndrome or to detect an iatrogenic etiology of Cushing's syndrome. The screening phase relies on tests that are sensitive but not specific, such as urinary free cortisol, nocturnal salivary cortisol and 1 mg dexamethasone suppression, which still require established assessment criteria. Confirmation can be obtained by repeating urinary cortisol, 2 mg/day dexamethasone suppression, both alone and combined with corticotropin releasing hormone (CRH), to exclude pseudoCushing states. ACTH dependency can be easily explored by ACTH measurements, but the differential diagnosis between pituitary and ectopic Cushing's disease is difficult and may require invasive procedures such as inferior petrosal sinus sampling. Sophisticated imaging and isotopic techniques play a significant role in locating the source of ACTH in ectopic syndromes but are not always effective. In general, biochemical and imaging tests should be combined in order to assess different mechanisms and perspectives of the syndrome. Rigorous methodology is essential to obtain accurate results, allowing a correct diagnosis and improving therapeutic performance in this devastating disease.

Background: The features of pituitary ACTH-dependent Cushing syndrome are often indistinguishable from those of occult ectopic ACTH-dependent Cushing syndrome (CS)., Aim: To assess the diagnostic accuracy of bilateral inferior petrosal sinus sampling (BIPSS) in the differential diagnosis of ACTH-dependent Cushing's syndrome as compared with ACTH levels and the overnight high dose dexamethasone suppression test (HDDST)., Material and Methods: Retrospective review of medical records of 23 patients (aged 19 to 63 years, 16 women) with surgically proven CS, 20 pituitary microadenomas (CD) and 3 with occult ectopic ACTH secretion (EAS)., Results: No tumor was identifiable by imaging techniques. Mean plasma ACTH values were higher in patients with EAS than in CD (103+/- 110.2 and 73.1+/-41.98 pg/mL respectively, p=NS). Three patients with EAS and 3 patients with CD did not suppress cortisol with the HDDST. The sensitivity of the test was 86% and the specificity 100%. To improve the diagnostic outcome of BIPSS, an stimulation with Desmopressin (9 fig i.v) was performed in 9 patients. The threshold for a pituitary source, was defined as an inferior petrosal sinus to peripheral ACTH basal and post Desmopression ratio >2. BIPSS was successfully carried out in 22 patients and no complications occurred. In 6 patients BIPSS failed to meet the threshold criteria. In 3 patients, bronchial carcinoid tumors which proved to synthesize ACTH, were removed. The diagnostic sensitivity of BIPSS greatly improved from 86% to 100% after Desmopressin stimulation. BIPSS accurately predicted the inverted exclamation markateralization of the microadenoma in 8 of 12 patients (66%)., Conclusions: The combination of Desmopressin stimulation with BIPSS was useful for the differential diagnosis of ACTH-dependent Cushing's Syndrome. However, the preoperative location of pituitary microadenomas was poorly predicted by BIPSS.

Introduction: In AIDS patients the endocrine system is often affected. Diabetes insipidus (DI) is uncommon and has been related to drugs and infections of the central nervous system (toxoplasmosis, cryptococcic meningitis, cytomegalovirus encephalitis). In these patients at the time of diagnosis, imaging investigations are often normal., Clinical Case: We report the case of a 40 year old man with infection category HIV C3 (CD4 < 50 mm3 and viral load 301,258 copies/ml), not on antiretroviral treatment at the time of hospital admission. He had polyuria (8-10 litres/day) and polydipsia for the previous 15 days, with no other symptoms. The dehydration test showed central DI (raised osmolarity following subcutaneous desmopresin). On MNR there were bilateral periventricular nodular images, also present in both caudate nuclei, with ring increased uptake following administration of paramagnetic contrast. On the clinical suspicion of cerebral toxoplasmosis empirical treatment was started with sulphadiazine and pyrimethamine together with nasal DDAVP, obtaining a good clinical response., Conclusions: In patients with HIV infection, DI, although uncommon, may be the first sign of cerebral toxoplasmosis. Imaging studies may be pathological and assist diagnosis.

At the age of 20 months a baby girl began with compulsive water drinking. The water intake reached 4,000 ml per day. The constant drinking of water created disorganization in the family life. At the age of 2 years and 9 months, the psychogenic polydipsia is confirmed, based in the patient's ability to concentrate her urine, which was demonstrated with 1-deamino-BD arginine vasopressin (DDAVP) and the water deprivation tests. Neither bacteriological, clinical, nor radiological evidences of urinary infection were found. The intravenous pyelogram revealed a unilateral and complete duplication of the collecting system. The abnormal urinary tract does not have a causal relationship with the polyuria. With progressive water deprivation, the polydispia stopped in two months. Psychogenic polydispia is rare in infants and children. The mistake and delay in diagnosis is frequency. The differential diagnosis with cranial diabetes insipidus and urological diseases may be difficult sometimes.