Search results for " ADRENAL."
showing 10 items of 62 documents
21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia.
2005
Congenital adrenal hyperplasia (CAH) comprises autosomal recessive disorders mainly due to defects in the 21-hydroxylase (CYP21) gene.The study aimed to perform molecular characterization in 43 Romanian patients with classical CAH forms diagnosed at the Center for Genetic Diseases of the Pediatric Clinic/University Cluj (38 with 21-hydroxylase deficiency, five with 11beta-hydroxylase deficiency), to determine the frequency of mutations in the CYP21A2 gene and attempt a genotype-phenotype correlation in patients with 21-hydroxylase deficiency.Molecular analysis was performed by direct sequencing of PCR amplified products of the CYP21A2 and CYP11B1 genes.The most frequent mutation in Romanian…
CLINICAL ROLE OF GASLESS LAPAROSCOPIC ADRENALECTOMY
2009
BACKGROUND: Several studies have demonstrated that the pneumoperitoneum (PNP) may have several hemodynamic, metabolic, neurologic, and humoral effects; in a limited number of patients, these effects represent a contraindication to the use of the PNP in the presence of glaucoma, cardiovascular insufficiency, advanced chronic obstructive bronchitis, and neurologic disease. PATIENTS AND METHODS: Between May 2002 and July 2008, we performed 9 laparoscopic gasless adrenalectomies in 8 patients (5 male and 3 female): 4 left, 3 right, and 1 bilateral, treated in 2 different operations. Mean age was 54.8 years (range: 34 to 76 y). Preoperative diagnosis was Cushing in 5 cases, pheochromocytoma in 1…
Plasma catecholamine responses to four resistance exercise tests in men and women
1999
The plasma adrenaline ([A]) and noradrenaline ([NA]) concentration responses of nine men and eight women were investigated in four resistance exercise tests (E80, E60, E40 and E20), in which the subjects had to perform a maximal number of bilateral knee extension-flexion movements at a given cycle pace of 0.5 Hz, but at different load levels (80%, 60%, 40% and 20% of 1 repetition maximum, respectively). The four test sessions were separated by a minimal interval of 3 rest days. The number of repetitions (Repmax), the total work (Wtot) done normalized for the lean body mass and the heart rate (HR) responses were similar in the two groups in each test. In addition, no differences were found b…
Study of abnormal adrenal receptors in subjects with ACTH-independent Cushing's syndrome and nodular adrenal hyperplasia
2020
ACTH-independent Cushing's Syndrome (AICS) accounts for 15-20% of cases of Cushing's syndrome, with1% due to abnormal receptors. Our aim is to study the presence of abnormal receptors in subjects diagnosed with AICS with nodular adrenal hyperplasia in a 14-year period (2002-2016), as well as its clinical-biological and evolutive characteristics.A multicentre descriptive study of a 15-case series of AICS with nodular adrenal hyperplasia (study period: 2002-2016). In these cases, abnormal receptor screening was performed by means of stimulation tests, with a plasma cortisol increase of ≥ 25% from baseline being considered pathologic.Of the 15 cases, 13 were female, with a mean age at diagnosi…
A unique fatal case of Waterhouse–Friderichsen syndrome caused by Proteus mirabilis in an immunocompetent subject
2019
Abstract Introduction: The Waterhouse–Friderichsen syndrome (WFS), also known as purpura fulminans, is a potentially lethal condition described as acute hemorrhagic necrosis of the adrenal glands. It is often caused by infection. Classically, Neisseriae meningitidis represents the main microorganism related to WFS, although, infrequently, also other infectious agents are reported as a possible etiologic agent. The authors report the first case of death due to Proteus mirabilis infection, with postmortem evidence of WFS. Patient concerns: After a facial trauma that provoked a wound on the nose, the subject, a healthy 40-years old man, was conducted to the local hospital (in Sicily, Italy) af…
Ovarian suppression reduces clinical and endocrine expression of late-onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
1994
Objective To determine the effectiveness of GnRH-agonist (GnRH-a) treatment in women with late onset congenital adrenal hyperplasia. Design Prospective assessment of GnRH-a treatment in six women with documented late-on-set congenital adrenal hyperplasia who were not preselected. Comparisons were made to previous responses in the same patients receiving dexamethasone. Eight age- and weight-matched ovulatory women served as controls. Setting Academic medical center. Intervention Baseline blood determinations before and after IV ACTH, before and after 6months of GnRH-a treatment. Estrogen and progestin replacement was begun in all women after the 3rd month of treatment. Main Outcome Measures …
Refractory Acne and 21-Hydroxylase Deficiency in a Selected Group of Female Patients.
2009
<i>Background:</i> Excessive androgen production, suspected in women when acne is accompanied by hirsutism and menstrual irregularities, may be due to congenital adrenal hyperplasia. This inherited disorder of cortisol biosynthesis is caused in more than 90–95% of all cases by 21-hydroxylase deficiency (21-OHD). The steroid 21-hydroxylase gene <i>(CYP21)</i> has a high degree of variability. <i>Objective:</i> This study was conducted to evaluate <i>CYP21 </i>gene mutations in a selected group of women with papulopustular and comedonal acne refractory to treatment, irregular menses and hirsutism. <i>Methods:</i> 30 out of 61 women e…
The ratio of androstenedione: 11β-hydroxyandrostenedione is an important marker of adrenal androgen excess in women
1992
To determine if the ratio of serum androstenedione (A):11 beta-hydroxyandrostenedione (OHA) would be helpful in differentiating adrenal from ovarian hyperandrogenism.Prospective study of outpatients being evaluated for hyperandrogenism.Normal women (n = 27), those with hyperandrogenic chronic anovulation (n = 25), and 7 with adult onset of congenital adrenal hyperplasia (CAH) because of 21-hydroxylase deficiency.Fasting serum between 8:00 A.M. and 9:00 A.M. Patients with hyperandrogenic chronic anovulation and CAH received dexamethasone (DEX) 2 mg for 7 days.Serum testosterone (T), unbound T, dehydroepiandrosterone sulfate (DHEAS), A, and 11 beta-OHA by radioimmunoassay.Serum 11 beta-OHA an…
Female pelvic congenital malformations. Part I: embryology, anatomy and surgical treatment.
2011
This review covers the most important female congenital pelvic malformations. The first part focuses on the embryological development of the urogenital and anorectal apparatus, morphological features, and the diagnostic and surgical approach to abnormalities. Comprehension of the embryological development of the urogenital and anorectal apparatus is essential to understand the morphology of congenital pelvic abnormalities and their surgical treatment. Congenital pelvic malformations are characterized by specific common features; the severity of which often subverts the pelvic morphology completely and makes it difficult to comprehend before surgery. The development of imaging, mainly magnet…
Managing Adult-onset Still's disease: The effectiveness of high-dosage of corticosteroids as first-line treatment in inducing the clinical remission.…
2019
Abstract To assess the effectiveness of the treatment with high dosage of corticosteroids (CCSs), as first-line therapy, in inducing remission in naïve Adult-onset Still's disease (AOSD) patients compared with low dosage of CCSs, after 6 months. To further evaluate the rate of patients maintaining the remission and the rate of CCSs discontinuation, after additional 12 months of follow-up. A retrospective evaluation of patients prospectively followed was designed to compare the rate of clinical remission in naïve AOSD patients treated with high dosages of CCSs (0.8–1 mg/kg/day of prednisone-equivalent) or low dosage of CCSs (0.2–0.3 mg/kg/day of prednisone-equivalent), after 6 months. An add…