Isolated adrenocorticotropic hormone deficiency due to probable lymphocytic hypophysitis in a woman.

We report a 22-year-old woman who presented with asthenia, weight loss and hypotension in which extensive pituitary and adrenal investigations were diagnostic of isolated adrenocorticotropic hormone deficiency (IAD) of pituitary origin. Magnetic resonance imaging of the hypothalamus and pituitary showed a normal-sized pituitary, with no mass lesion. The diagnosis of IAD probably secondary to lymphocytic hypophysitis (LYH) was made. IAD is able to be the way of presentation of LYH, although the disease could or could not turn into a panhypopituitarism. Prompt recognition of this potentially fatal condition is important because of the availability of effective treatment. Indeed, regular endocrine and imaging follow up is important for patients with IAD and normal initial pituitary imaging results to detect early new-onset pituitary hormones deficiencies or imaging abnormalities.

Reproductive outcomes of female patients with congenital adrenal hyperplasia due to 21-hydroxylase defi ciency.

Fertility in women with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) appears to be reduced, especially in women with the classic salt-wasting type. Several factors have been suggested to contribute to this subfertility such as androgen excess, adrenal progesterone hypersecretion, consequences of genital reconstructive surgery, secondary polycystic ovaries syndrome, and psychosexual factors. In contrast to this subfertility, pregnancies are commonly normal and uneventful. Adequate glucocorticoid therapy and improvement of surgical and psychological management could contribute to optimize fertility in CAH female patients, even among women with the classic variant. This review provides current information regarding the reproductive outcomes of women with CAH due to 21-OHD and the fertility and pregnancy issues in this population.

Complicated urinary tract infections associated with diabetes mellitus: Pathogenesis, diagnosis and management.

Diabetes mellitus has a number of long-term effects on the genitourinary system. These effects predispose to bacterial urinary tract infections (UTIs) in the patient with diabetes mellitus. Complicated UTIs are also common and potentially life-threatening conditions. They include emphysematous pyelonephritis, emphysematous pyelitis/cystitis, xanthogranulomatous pyelonephritis, renal/perirenal abscess, and renal papillary necrosis. Improved outcomes of these entities may be achieved by early diagnosis, knowledge of common predisposing factors, appropriate clinical and radiological assessment, and prompt management. Herein we review complicated UTIs associated with diabetes mellitus in terms of pathogenesis, clinical manifestations, radiological features, and current management options.

Brain magnetic resonance imaging findings in adult patients with congenital adrenal hyperplasia: Increased frequency of white matter impairment and temporal lobe structures dysgenesis.

BACKGROUND: Congenital adrenal hyperplasia (CAH) is an inherited recessive disorder of adrenal steroidogenesis. The enzymes most commonly affected are 21-hydroxylase. Past reports suggested brain magnetic resonance imaging (MRI) abnormalities in CAH patients, affecting white matter signal, temporal lobe and amygdala structure and function. AIMS: In the present study, we aimed to investigate the frequency of white matter changes and temporal lobes structures dysgenesis in a population of patients having CAH due to 21-hydroxylase deficiency. MATERIALS AND METHODS: Neurological examination and brain MRI were performed in 26 patients. RESULTS: Neurological examination revealed mental retardation in three patients, tremor in two patients, tendon reflexes asymmetry in one patient, and cerebellar syndrome in one patient. Eleven patients (42.3%) showed MRI abnormalities: Eight of them had white matter hyperintensities, one patient had moderate atrophy in the right temporal, and hippocampal dysgenesis was found in the remaining two patients. CONCLUSIONS: Brain MRI abnormalities in CAH patients include white matter hyperintensities and temporal lobe structures dysgenesis. The mechanisms involved seem related to hormonal imbalances during brain development and exposure to excess exogenous glucocorticoids. Clinical implications of such lesions remain unclear. More extensive studies are required to define better the relationships between brain involvement and different CAH phenotypes and treatment regimens.

Hyperthyroidism: A rare cause of pulmonary embolism: Report of two cases.

Several disorders of coagulation and fibrinolysis have been widely reported in patients with hyperthyroidism. Most reports have focused on only the venous thromboembolism risk, and few of them have studied specifically the association between hyperthyroidism and pulmonary embolism (PE). We report two cases of Graves' disease complicated by PE. The first patient is a 32 year-old man, and the second patient is a 23-year-old female. PE was suspected on the basis of pulmonary hypertension in patient one, and clinical presentation in the other patient. The first patient had also right heart failure. PE was confirmed in both patients by a lung perfusion-ventilation scan test. Thrombophilia screen revealed normal findings in the first patient and an elevation in coagulation factor VIII in the second one. Both patients received heparin, followed by oral anticoagulant therapy. In addition, they were treated with radioactive iodine resulting in partial recovery from hyperthyroidismforpatient oneand clinical euthyroidism for patient two. The former died of acute heart failure secondary to a chest infection, while the later was lost to follow-up. In conclusion, hyperthyroidism is associated with increased risk of venous thromboembolism, including PE. Potential mechanisms involved in this association include endothelial dysfunction, decreased fibrinolytic activity, and increased coagulation factors levels. Thyroid evaluation is recommended in patients with unprovoked venous thromboembolic events. Conversely, the diagnosis of venous thromboembolism should be considered in patients with hyperthyroidism, particularly if additional prothrombotic risk factors are present.

Metabolic profile and cardiovascular risk factors in adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

BACKGROUND: In congenital adrenal hyperplasia (CAH), long-term glucocorticoid treatment coupled with increased androgens may lead to undesirable metabolic effects. The aim of our report was to determine the prevalence of metabolic abnormalities and cardiovascular risk factors in a population of adult patients with CAH due to 21 hydroxylase deficiency. MATERIALS AND METHODS: Twenty-six patients (11 males and 15 females, mean age ± SD=27.4±8.2 years) were recruited. Anthropometry, body composition, metabolic parameters and cardiovascular risk factors were studied. RESULTS: Obesity (overweight included) was noted in 16 patients (61.5%), with android distribution in all cases. Bioelectrical impedance showed increased body fat mass in 12 patients (46.1%). Lipid profile alterations and carbohydrate metabolism disorders were detected in seven (26.9%) and five (19.2%) patients respectively. Moderate hepatic cytolysis, associated with hepatic steatosis, was found in one patient. Seven patients (27%) had insulin resistance. Ambulatory blood pressure monitoring showed abnormalities in six patients (23%). Increased carotid intima media thickness was found in 14 patients (53.8%). CONCLUSION: Adult CAH patients tend to have altered metabolic parameters and a higher prevalence of cardiovascular risk factors. Lifelong follow-up, lifestyle modifications, and attempts to adjust and reduce the glucocorticoid doses seem important.

Ectopic secretion of GHRH by a pancreatic neuroendocrine tumor associated with an empty sella.

Acromegaly is usually the result of a pituitary growth hormone cell-adenoma or is more rarely due to ectopic secretion of growth hormone releasing hormone (GHRH).We report the case of a 60-year-old woman with acromegaly due to a GH-RH-secreting pancreatic tumor. Laboratory evaluation confirmed the diagnosis of acromegaly. Magnetic resonance imaging revealed a partial empty sella with no signs of adenoma. Ultrasound sonography performed for abdominal pains showed a calcified large heterogeneous infrahepatic mass. Computed tomography scan discovered a heterogeneous pancreatic head mass with a diameter of 10cm. Measurement of fasting plasma GHRH was performed showing a high concentration of 604ng/L (normal 10-60). We therefore concluded that the acromegaly was caused by ectopic overproduction of GHRH likely due to the pancreatic tumor. The patient underwent a cephalic duodenopancreatectomy. Histology revealed a well-circumscribed tumor with organoid architecture. Immunohistochemistry demonstrated diffuse positivity for chromogranin A, neuronal specific enolase and synaptophysin and negative immunoreactivity for prolactin, GH and serotonin. These features were concordant with a well-differentiated neuroendocrine tumor of the pancreas. Surgical resection of this pancreatic tumor was followed by significant amelioration of acromegalic signs and normalization of GHRH and GH levels.