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Primary adrenal insufficiency

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https://www.readbyqxmd.com/read/28689853/identification-of-patients-with-primary-ovarian-insufficiency-caused-by-autoimmunity
#1
Jing Gao, Xue Jiao, Yujie Dang, Jing Li, Guiyu Li, Ting Han, Yixun Liu, Yingying Qin, Zi-Jiang Chen
Autoimmune pathogenesis is responsible for a subset of primary ovarian insufficiency (POI) cases. The significance of autoantibodies for POI, however, remains unclear. A total of 250 women with idiopathic POI and 256 age-matched healthy women were enrolled. The presence in serum of adrenal cortex autoantibody (AAA), detected by indirect immunofluorescence and non-organ-specific antibodies, including antinuclear antibody, anti-cardiolipin antibody, and anti-double stranded DNA antibody, detected by enzyme-linked immunosorbent assay, was compared...
June 21, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/28685093/bilateral-primary-adrenal-diffuse-large-b-cell-lymphoma-without-adrenal-insufficiency-a-case-report-and-review-of-the-literature
#2
Peijie Chen, Lu Jin, Yu Yang, Liangchao Ni, Shangqi Yang, Yongqing Lai
Primary adrenal lymphoma (PAL) is an infrequent malignant tumor, occurring in the bilateral adrenal glands as a mass in the majority of cases. The current study presents a case of bilateral primary adrenal diffuse large B cell lymphoma in a 52-year-old female patient, who presented with abdominal pain in the left lumbar region for ~2 weeks. Abdominal ultrasound examination and computed tomography scanning revealed a mass of 132×119×101 mm on the left adrenal gland and a mass of 53×27 mm on the right adrenal gland...
July 2017: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/28676275/testicular-adrenal-rest-tumor-tart-in-congenital-adrenal-hyperplasia
#3
Hatice Ozisik, Banu Sarer Yurekli, Ilgin Yildirim Simsir, Ilker Altun, Utku Soyaltın, Ezgi Guler, Huseyin Onay, Banu Sarsik, Fusun Saygili
Congenital adrenal hyperplasia is one of the most common autosomal recessive genetic disorders. Testicular adrenal tumors are significant complications of congenital adrenal hyperplasia. We would like to present two patients of testicular adrenal rest tumors. Patient 1 24 year-old male, he was diagnosed with congenital adrenal hyperplasia at the age of 8 due to precocious puberty. He received hydro-cortisone treatment until the age of 18. Testicular mass had been detected and right radical orchiectomy had been applied 6 months ago and reported as testicular adrenal rest tumor...
July 1, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28666219/lipid-induced-endoplasmic-reticulum-stress-in-x-linked-adrenoleukodystrophy
#4
Malu-Clair van de Beek, Rob Ofman, Inge Dijkstra, Frits Wijburg, Marc Engelen, Ronald Wanders, Stephan Kemp
X-linked adrenoleukodystrophy (ALD) is a progressive neurodegenerative disease that is caused by mutations in the ABCD1 gene and characterized by elevated levels of very long-chain fatty acids (VLCFA) in plasma and tissues, with the most pronounced increase in the central nervous system. Virtually all male patients develop adrenal insufficiency and myelopathy (adrenomyeloneuropathy), but a subset develops a fatal cerebral demyelinating disease (known as cerebral ALD). Female patients may also develop myelopathy, but adrenal insufficiency or leukodystrophy are very rare...
June 27, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28661915/endocrine-dysfunction-following-immune-checkpoint-inhibitor-therapy
#5
Bhavana Konda, Fadi Nabhan, Manisha H Shah
PURPOSE OF REVIEW: Immune checkpoint inhibitors (ICI) represent an important milestone in the modern era of antineoplastic therapy and have ushered optimism amongst oncologists and patients alike. These agents, however, are associated with significant potential toxicities, the importance of which cannot be overstated. The clinical presentation, diagnosis, and management strategies of immune-related endocrinopathies associated with ICI use are described in this case-based review. RECENT FINDINGS: An increasing number of ICI have shown promise in the management of various malignancies in the recent years...
June 28, 2017: Current Opinion in Endocrinology, Diabetes, and Obesity
https://www.readbyqxmd.com/read/28637490/lipoid-congenital-adrenal-hyperplasia-by-steroidogenic-acute-regulatory-protein-star-gene-mutation-in-an-italian-infant-an-uncommon-cause-of-adrenal-insufficiency
#6
Carla Bizzarri, Elisa Pisaneschi, Mafalda Mucciolo, Stefania Pedicelli, Daniela Galeazzi, Antonio Novelli, Marco Cappa
BACKGROUND: Lipoid congenital adrenal hyperplasia (CAH) (OMIM n. 201710) is the most severe form of congenital adrenal hyperplasia. It is characterized by severe adrenal and gonadal steroidogenesis impairment due to a defect in the conversion of cholesterol to pregnenolone. Affected infants experience salt loss, but glucocorticoid and mineralocorticoid replacement therapy enables long-term survival. Classic lipoid congenital adrenal hyperplasia is relatively common in Japan and Korea but extremely rare in Caucasian populations...
June 20, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28624161/clinical-follow-up-of-the-first-sf-1-insufficient-female-patient
#7
Karine Gerster, Anna Biason-Lauber, Eugen J Schoenle
OBJECTIVE: Steroidogenic factor 1 (SF-1/NR5A1) plays a crucial role in regulating adrenal development, gonad determination and differentiation, and in the hypothalamic-pituitary control of reproduction and metabolism. In men (46, XY), it is known that mutations in SF-1/NR5A1 gene cause a wide phenotypic spectrum with variable degrees of undervirilization. In recent years, the role of SF-1 in the ovarian function was increasingly discussed and alterations in the gene were related to primary ovarian insufficiency...
June 14, 2017: Annales D'endocrinologie
https://www.readbyqxmd.com/read/28614010/diagnostic-accuracy-of-basal-cortisol-level-to-predict-adrenal-insufficiency-in-cosyntropin-testing-results-from-an-observational-cohort-study-with-804-patients
#8
Tristan Struja, Leonie Briner, Aline Meier, Alexander Kutz, Esther Mundwiler, Andreas Huber, Beat Mueller, Luca Bernasconi, Philipp Schuetz
CONTEXT: ACTH stimulation testing is the current standard for the assessment of primary and secondary adrenal insufficiency (AI). We aimed to investigate the value of basal cortisol level for prediction of AI. METHODS: We retrospectively analyzed 804 consecutive patients who had high-dose (250μg, HDT) or low-dose (1μg, LDT) ACTH testing as part of their diagnostic work-up. Site-specific cut-off levels for AI were <550 in HDT and <500nmol/L in LDT, respectively...
June 14, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/28583942/management-of-endocrine-disease-risk-of-overtreatment-of-patients-with-adrenal-insufficiency-current-and-emerging-aspects
#9
Gherardo Mazziotti, Anna Maria Formenti, Stefano Frara, Elisa Roca, Pietro Mortini, Alfredo Berruti, Andrea Giustina
The effects of long-term replacement therapy of adrenal insufficiency (AI) are still a matter of controversy. In fact, the established glucocorticoid replacement regimens do not completely mirror the endogenous hormonal production and the monitoring of AI treatment may be a challenge for the lack of reliable biochemical markers. Consequently, several AI patients may be exposed to relative glucocorticoid excess that, even if mild, may potentially lead to development of chronic complications, such as diabetes mellitus, dyslipidemia, hypertension and fragility fractures with consequent impaired QoL and increased mortality risk...
June 5, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28572228/adrenal-insufficiency-recognition-and-management
#10
REVIEW
Agnieszka Pazderska, Simon Hs Pearce
Adrenal insufficiency is characterised by inadequate -glucocorticoid production owing to destruction of the adrenal cortex or lack of adrenocorticotropic hormone stimulation. In primary adrenal insufficiency, lack of mineralocorticoids is also a feature. Patients can present with an insidious onset of symptoms, or acutely in adrenal crisis, which requires prompt recognition and treatment. Chronic glucocorticoid therapy is the most common cause of adrenal insufficiency. The -diagnosis of adrenal insufficiency is made by -demonstrating low basal and/or stimulated serum cortisol and should be -followed by appropriate investigations to establish the -underlying aetiology...
June 2017: Clinical Medicine: Journal of the Royal College of Physicians of London
https://www.readbyqxmd.com/read/28571201/primary-hypothyroid-and-secondary-adrenal-insufficiency-searching-the-missing-link
#11
Subhodip Pramanik, Sayantani Chandra, Pradip Mukherjee, Subhankar Chowdhury
No abstract text is available yet for this article.
April 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28567296/thyrotoxicosis-leading-to-adrenal-crises-reveals-primary-bilateral-adrenal-lymphoma
#12
Catarina Roque, Ricardo Fonseca, Carlos Tavares Bello, Carlos Vasconcelos, António Galzerano, Sância Ramos
Primary adrenal lymphoma is a rare malignancy. It frequently presents bilaterally and with symptoms of adrenal insufficiency. Amiodarone may induce secondary organ dysfunction, and thyrotoxicosis develops in 15% of cases. The symptomatology of both conditions is nonspecific, especially in the elderly, and a high suspicion index is necessary for appropriate diagnosis. A 78-year-old female presented to the emergency department with confusion, nausea and vomiting. She had recently been to the emergency department with urinary tract infection, vomiting and acute hypochloremic hyponatremia...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28552871/a-case-of-stiff-person-syndrome-due-to-secondary-adrenal-insufficiency
#13
Yuri Mizuno, Hiroo Yamaguchi, Taira Uehara, Kenichiro Yamashita, Ryo Yamasaki, Jun-Ichi Kira
We report a case of flexion contractures in a patient's legs secondary to postpartum hypopituitarism. A 56-year-old woman presented with a 3-year history of worsening flexion contractures of the hips and knees. On admission, her hips and knees could not be extended, and she had muscle stiffness and tenderness to palpation of the lower extremities. We first suspected stiff-person syndrome or Isaacs' syndrome because of her muscle stiffness. However, multiple hormones did not respond to stimulation tests, and an MRI of the brain showed atrophy of the pituitary gland with an empty sella...
May 26, 2017: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/28546232/genetic-defects-in-pediatric-onset-adrenal-insufficiency-in-japan
#14
Naoko Amano, Satoshi Narumi, Mie Hayashi, Masaki Takagi, Kazuhide Imai, Toshiro Nakamura, Rumi Hachiya, Goro Sasaki, Keiko Homma, Tomohiro Ishii, Tomonobu Hasegawa
CONTEXT: Most patients with pediatric-onset primary adrenal insufficiency (PAI), such as 21-hydroxylase deficiency, can be diagnosed by measuring the urine or serum levels of steroid metabolites. However, the etiology is often difficult to determine in a subset of patients lacking characteristic biochemical findings. OBJECTIVE: To assess the frequency of genetic defects in Japanese children with biochemically uncharacterized PAI and characterize the phenotypes of mutation-carrying patients...
August 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28536830/transcatheter-aortic-valve-implantation-in-patients-on-corticosteroid-therapy
#15
Ryosuke Higuchi, Tetsuya Tobaru, Kenichi Hagiya, Mike Saji, Keitaro Mahara, Itaru Takamisawa, Jun Shimizu, Shuichiro Takanashi, Morimasa Takayama
Transcatheter aortic valve implantation (TAVI) is recommended for patients who are inoperable or at high risk for surgical aortic valve replacement (SAVR). Corticosteroid therapy is considered to be a risk factor for SAVR, but there is a paucity of information about TAVI in patients taking corticosteroids. The aim of this study is to elucidate the outcome of TAVI in patients on chronic corticosteroid therapy, compared with SAVR. We retrospectively analyzed patients on corticosteroid therapy who underwent TAVI (n = 21) or SAVR (n = 30) for severe aortic stenosis in Sakakibara Heart Institute...
May 23, 2017: Heart and Vessels
https://www.readbyqxmd.com/read/28502948/disseminated-cryptococcosis-with-adrenal-insufficiency-and-meningitis-in-an-immunocompetent-individual
#16
Misa Ito, Takashi Hinata, Kaku Tamura, Ayano Koga, Toshimitsu Ito, Hiroko Fujii, Fumihiko Hirata, Hidenari Sakuta
We present a case of cryptococcosis with adrenal insufficiency and meningitis in a healthy host without any risk factors. Antifungal therapy did not reduce the cryptococcal antigen titers of the cerebrospinal fluid and serum or the bilateral adrenal gland enlargement. It was suggested that the adrenal glands were the focus of persistent fungemia. Removal of both adrenal glands brought about a response to antifungal therapy. We conclude that if antifungal therapy is ineffective, bilateral adrenalectomy is an effective measure for treatment of such patients...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28494535/tak-264-mln0264-in-previously-treated-asian-patients-with-advanced-gastrointestinal-carcinoma-expressing-guanylyl-cyclase-c-results-from-an-open-label-non-randomized-phase-1-study
#17
Yung-Jue Bang, Toshimi Takano, Chia-Chi Lin, Adedigbo Fasanmade, Huyuan Yang, Hadi Danaee, Takayuki Asato, Thea Kalebic, Hui Wang, Toshihiko Doi
Purpose: This phase 1 dose-escalation portion of the study evaluated the safety, pharmacokinetics (PK), and antitumor activity of TAK-264 in Asian patients with advanced gastrointestinal (GI) carcinoma or metastatic or recurrent gastric or gastroesophageal junction adenocarcinoma expressing guanylyl cyclase C (GCC). Materials and Methods: Adult patients with advanced GI malignancies expressing GCC (H-score ≥ 10) received TAK-264 on day 1 of 3-week cycles as 30-minute intravenous infusions for up to 1 year or until disease progression or unacceptable toxicity...
May 10, 2017: Cancer Research and Treatment: Official Journal of Korean Cancer Association
https://www.readbyqxmd.com/read/28456143/a-first-case-of-adrenomyeloneuropathy-with-mutation-y174s-of-the-adrenoleukodystrophy-gene
#18
Yukio Horikawa, Mayumi Enya, Nobuaki Yoshikura, Junichi Kitagawa, Shigeo Takashima, Nobuyuki Shimozawa, Jun Takeda
The patient first noticed spasticity and weakness in his legs. He was diagnosed with chronic myelogenous leukemia (CML); the symptoms were attributed to neuropathy associated with CML. By treatment with dasatinib, he achieved complete hematological remission, but his difficulty in walking was not improved. His neurological symptom worsened together with an increase in body temperature and then disappeared together with a normalized body temperature, which may be attributed to the Uhthoff's phenomenon often observed in multiple sclerosis...
February 2017: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/28450305/mechanisms-in-endocrinology-update-on-pathogenesis-of-primary-adrenal-insufficiency-beyond-steroid-enzyme-deficiency-and-autoimmune-adrenal-destruction
#19
Christa Flueck
Primary adrenal insufficiency (PAI) is potentially life threatening, but rare. In children genetic defects prevail, while adults suffer mostly from acquired forms. The spectrum of genetic defects has increased in recent years with the use of next generation sequencing methods and reaches now far beyond genetic defects in known enzymes of steroidogenesis. Cofactor disorders such as P450 oxidoreductase (POR) deficiency manifesting as a complex form of congenital adrenal hyperplasia with a broad clinical phenotype have come to the forth...
April 27, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28446514/autoimmune-polyendocrine-syndrome-type-1-in-an-indian-cohort-a-longitudinal-study
#20
Ghazala Zaidi, Vijayalakshmi Bhatia, Saroj K Sahoo, Aditya Narayan Sarangi, Niharika Bharti, Li Zhang, Liping Yu, Daniel Eriksson, Sophie Bensing, Olle Kämpe, Nisha Bharani, Surendra Kumar Yachha, Anil Bhansali, Alok Sachan, Vandana Jain, Nalini Shah, Rakesh Aggarwal, Amita Aggarwal, Muthuswamy Srinivasan, Sarita Agarwal, Eesh Bhatia
OBJECTIVE: Autoimmune polyendocrine syndrome type 1 (APS1) is a rare autosomal recessive disorder characterized by progressive organ-specific autoimmunity. There is scant information on APS1 in ethnic groups other than European Caucasians. We studied clinical aspects and autoimmune regulator (AIRE) gene mutations in a cohort of Indian APS1 patients. DESIGN: Twenty-three patients (19 families) from six referral centres in India, diagnosed between 1996 and 2016, were followed for [median (range)] 4 (0...
July 2017: Endocrine Connections
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