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Pituitary insufficiency

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https://www.readbyqxmd.com/read/28634705/how-does-pregnancy-affect-the-patients-with-pituitary-adenomas-a-study-on-113-pregnancies-from-turkey
#1
Z Karaca, S Yarman, I Ozbas, P Kadioglu, M Akturk, F Kilicli, H S Dokmetas, R Colak, H Atmaca, Z Canturk, Y Altuntas, N Ozbey, N Hatipoglu, F Tanriverdi, K Unluhizarci, F Kelestimur
OBJECTIVE: Data regarding pregnancies in relation to pituitary tumors are limited. The effects of pregnancy on pituitary adenomas and the effects of adenoma itself (hormonal activity, mass effects and pituitary insufficiency) and/or treatment on the ongoing gestation and developing fetus were evaluated. METHODS: The study was a retrospective study. A questionnaire involving questions regarding medical history before index gestation, history of related pregnancy, result of index gestation and postpartum follow-up of the patients was filled by the investigator in one of the eight Referral Endocrinology Centers from Turkey...
June 20, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/28625504/mutations-in-armc9-which-encodes-a-basal-body-protein-cause-joubert-syndrome-in-humans-and-ciliopathy-phenotypes-in-zebrafish
#2
Julie C Van De Weghe, Tamara D S Rusterholz, Brooke Latour, Megan E Grout, Kimberly A Aldinger, Ranad Shaheen, Jennifer C Dempsey, Sateesh Maddirevula, Yong-Han H Cheng, Ian G Phelps, Matthias Gesemann, Himanshu Goel, Ohad S Birk, Talal Alanzi, Rifaat Rawashdeh, Arif O Khan, Michael J Bamshad, Deborah A Nickerson, Stephan C F Neuhauss, William B Dobyns, Fowzan S Alkuraya, Ronald Roepman, Ruxandra Bachmann-Gagescu, Dan Doherty
Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by hypotonia, ataxia, abnormal eye movements, and variable cognitive impairment. It is defined by a distinctive brain malformation known as the "molar tooth sign" on axial MRI. Subsets of affected individuals have malformations such as coloboma, polydactyly, and encephalocele, as well as progressive retinal dystrophy, fibrocystic kidney disease, and liver fibrosis. More than 35 genes have been associated with JS, but in a subset of families the genetic cause remains unknown...
June 14, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28624161/clinical-follow-up-of-the-first-sf-1-insufficient-female-patient
#3
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/28615049/a-case-of-acute-sheehan-s-syndrome-and-literature-review-a-rare-but-life-threatening-complication-of-postpartum-hemorrhage
#4
Shinya Matsuzaki, Masayuki Endo, Yutaka Ueda, Kazuya Mimura, Aiko Kakigano, Tomomi Egawa-Takata, Keiichi Kumasawa, Kiyoshi Yoshino, Tadashi Kimura
BACKGROUND: Sheehan's syndrome occurs because of severe postpartum hemorrhage causing ischemic pituitary necrosis. Sheehan's syndrome is a well-known condition that is generally diagnosed several years postpartum. However, acute Sheehan's syndrome is rare, and clinicians have little exposure to it. It can be life-threatening. There have been no reviews of acute Sheehan's syndrome and no reports of successful pregnancies after acute Sheehan's syndrome. We present such a case, and to understand this rare condition, we have reviewed and discussed the literature pertaining to it...
June 14, 2017: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/28604944/the-influence-of-graves-orbitopathy-treatment-with-intravenous-glucocorticoids-on-adrenal-function
#5
Urszula Ambroziak, Gabriela Bluszcz, Tomasz Bednarczuk, Piotr Miśkiewicz
INTRODUCTION: Graves' orbitopathy (GO) is the commonest extrathyroidal feature of Graves' disease. For active, moderate to severe GO intravenous glucocorticoid pulse therapy (ivGCS) is the first-line treatment, which might be followed by oral glucocorticoid therapy. Glucocorticoid treatment, especially in the time of withdrawal, carries a risk of adrenal insufficiency. The aim of this study was to assess the pituitary-adrenal axis function in patients with GO before and at the cessation of ivGCS, and after further oral glucocorticoid therapy...
June 12, 2017: Endokrynologia Polska
https://www.readbyqxmd.com/read/28596421/higher-glucocorticoid-replacement-doses-are-associated-with-increased-mortality-in-patients-with-pituitary-adenoma
#6
Casper Hammarstrand, Oskar Ragnarsson, Tobias Hallén, Eva Andersson, Thomas Skoglund, Anna G Nilsson, Gudmundur Johannsson, Daniel S Olsson
OBJECTIVE: Patients with secondary adrenal insufficiency (AI) have an excess mortality. The objective was to investigate the impact of the daily glucocorticoid replacement dose on mortality in patients with hypopituitarism due to non-functioning pituitary adenoma (NFPA). METHOD: Patients with NFPA were followed between years 1997- 2014 and cross-referenced with the National Swedish Death Register. Standardized mortality ratio (SMR) was calculated with the general population as reference and Cox-regression was used to analyse the mortality...
June 8, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28596198/pituitary-abscess
#7
Jameela Mohammed Al Salman, Rawan Al Muataz Billa Al Agha, Mohamed Helmy
Pituitary abscess is an uncommon pituitary lesion. Its clinical diagnosis can be difficult to distinguish from other pituitary lesions. This pathology is characterised by vague symptoms of headaches, generalised tiredness and hypopituitarism manifestations. A history of recent meningitis, paranasal sinusitis or head surgery can be a suggestive of the source of infection.A 20-year-old man was admitted to neurosurgery department with complain of headache, fatigue, polyuria, polydipsia, blurred vision and sexual dysfunction...
June 8, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28570329/endocrine-emergencies-with-neurologic-manifestations
#8
Makoto Ishii
PURPOSE OF REVIEW: This article provides an overview of endocrine emergencies with potentially devastating neurologic manifestations that may be fatal if left untreated. Pituitary apoplexy, adrenal crisis, myxedema coma, thyroid storm, acute hypercalcemia and hypocalcemia, hyperglycemic emergencies (diabetic ketoacidosis and hyperglycemic hyperosmolar state), and acute hypoglycemia are discussed, with an emphasis on identifying the signs and symptoms as well as diagnosing and managing these clinical entities...
June 2017: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/28556544/pituicytoma-an-outlook-on-possible-targeted-therapies
#9
Klaus Christian Mende, Jakob Matschke, Till Burkhardt, Wolfgang Saeger, Rolf Buslei, Michael Buchfelder, Rudolf Fahlbusch, Manfred Westphal, Jörg Flitsch
INTRODUCTION: Pituicytoma is a rare neoplasm of the sella region. Tumor resection is the primary treatment option, but remains subtotal due to excessive bleeding in many cases. The search for alternative or additional treatment regimens is necessary. AIMS: We aimed to determine the receptor expression of pituicytoma to find alternatives or supplements to surgical therapy in the use of targeted therapies. METHODS: Pituicytoma samples were collected from three institutions between 2006 and 2015 and were stained for vascular endothelial growth factors (VEGF), thyroid transcription factor (TTF1), and somatostatin receptors (SSTR 2/3/5)...
July 2017: CNS Neuroscience & Therapeutics
https://www.readbyqxmd.com/read/28552871/a-case-of-stiff-person-syndrome-due-to-secondary-adrenal-insufficiency
#10
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/28551907/-the-clinical-approach-to-diagnosis-and-treatment-of-hypothyroidism
#11
REVIEW
Amir Bashkin, Marina Nodelman
Hypothyroidism is the most frequent endocrinologic disorder after diabetes. It is caused by the insufficient production of thyroid hormones Thyroxine (T4) and Triiodothyronine (T3). T4 is the main hormone that is accumulated in the thyroid gland, while T3 is the active hormone that is produced from T4 in the peripheral tissues. More than 99% of the patients have primary hypothyroidism which is due to thyroid disorder mainly Hashimoto's thyroiditis or iatrogenic. Hypothyroidism is divided into sub-clinical when T4 is in the normal range and overt when it is low and usually the TSH level is higher than 10 mIU\L...
May 2017: Harefuah
https://www.readbyqxmd.com/read/28549061/central-hypothyroidism-a-neglected-thyroid-disorder
#12
REVIEW
Paolo Beck-Peccoz, Giulia Rodari, Claudia Giavoli, Andrea Lania
Central hypothyroidism is a rare and heterogeneous disorder that is characterized by a defect in thyroid hormone secretion in an otherwise normal thyroid gland due to insufficient stimulation by TSH. The disease results from the abnormal function of the pituitary gland, the hypothalamus, or both. Moreover, central hypothyroidism can be isolated or combined with other pituitary hormone deficiencies, which are mostly acquired and are rarely congenital. The clinical manifestations of central hypothyroidism are usually milder than those observed in primary hypothyroidism...
May 26, 2017: Nature Reviews. Endocrinology
https://www.readbyqxmd.com/read/28537768/hypopituitarism-after-gamma-knife-radiosurgery-for-pituitary-adenoma
#13
Karin Zibar Tomšić, Tina Dušek, Ivana Kraljević, Zdravko Heinrich, Mirsala Solak, Ana Vučinović, David Ozretić, Sergej Mihailović Marasanov, Hrvoje Hršak, Darko Kaštelan
PURPOSE: The aim of the study was to investigate the incidence of and risk factors for hypopituitarism after gamma knife radiosurgery (GKRS) for pituitary adenoma. MATERIALS AND METHODS: We conducted a retrospective analysis of the pituitary function of 90 patients who underwent GKRS for pituitary adenoma at the University Hospital Centre Zagreb between 2003 and 2014. Twenty seven of them met the inclusion criteria and the others were excluded from the study due to pituitary insufficiency which was present before GKRS...
May 24, 2017: Endocrine Research
https://www.readbyqxmd.com/read/28528436/the-unresolved-riddle-of-glucocorticoid-withdrawal
#14
REVIEW
F Guerrero Pérez, A P Marengo, C Villabona Artero
Glucocorticoid (GC) therapy is the most common cause of adrenal insufficiency (AI). The real prevalence of AI after GC is unknown but it could involve more than 30% of patients. Some gene variation has been associated with the variability of hypothalamic-pituitary-adrenal (HPA) axis and this issue could contribute to the individual variation of adrenal function after GC treatment. Symptoms and signs of AI are nonspecific and frequently the diagnosis is delayed. Dosage, duration of treatment, administration route and serum cortisol value are not completely useful to predict AI...
May 20, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/28500832/combined-pituitary-hormone-deficiency-in-a-girl-with-48-xxxx-and-rathke-s-cleft-cyst
#15
Surabhi Uppal, Youn Hee Jee, Marissa Lightbourne, Joan C Han, Constantine A Stratakis
BACKGROUND: Tetrasomy X is a rare chromosomal aneuploidy seen in girls, associated with facial dysmorphism, premature ovarian insufficiency and intellectual disability. A Rathke's cleft cyst (RCC) is a remnant of Rathke's pouch which may cause multiple pituitary hormone deficiencies by exerting pressure on the pituitary gland in the sella. METHODS/RESULTS: The patient was diagnosed with tetrasomy X by karyotyping during infancy. Brain MRI and multiple endocrine stimulation tests revealed RCC and combined pituitary hormone deficiency (growth hormone deficiency, secondary adrenal insufficiency and central hypothyroidism) likely due to RCC...
January 2017: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28472507/a-case-report-of-hypoglycemia-and-hypogammaglobulinemia-david-syndrome-in-a-patient-with-a-novel-nfkb2-mutation
#16
Rayhan A Lal, Laura K Bachrach, Andrew R Hoffman, Jingga Inlora, Shannon Rego, Michael P Snyder, David B Lewis
Context: DAVID syndrome (Deficient Anterior pituitary with Variable Immune Deficiency) is a rare disorder in which children present with symptomatic ACTH deficiency preceded by hypogammaglobulinemia from B-cell dysfunction with recurrent infections, termed common variable immunodeficiency (CVID). Subsequent whole exome sequencing studies have revealed germline heterozygous C-terminal mutations of NFKB2 as either a cause of DAVID syndrome or of CVID without clinical hypopituitarism. However, to the best of our knowledge there have been no cases in which the endocrinopathy has presented in the absence of a prior clinical history of CVID...
May 3, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28469927/clinical-course-of-pituitary-function-and-image-in-igg4-related-hypophysitis
#17
Takatoshi Anno, Fumiko Kawasaki, Maiko Takai, Ryo Shigemoto, Yuki Kan, Hideaki Kaneto, Tomoatsu Mune, Kohei Kaku, Niro Okimoto
A 76-year-old man had a hypopituitarism including adrenal insufficiency, hypogonadism and hypothyroidism. Based on various findings including the swelling of the pituitary gland, increase of serum IgG4 level and abundant IgG4-positive plasma cell infiltration in immunostaining of the pituitary gland, we diagnosed this subject as IgG4-related hypophysitis. In general, a high-dose glucocorticoid treatment is effective for IgG4-related disease. His clinical symptom, laboratory data and adrenal insufficiency were almost improved without any therapy...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28458904/fluticasone-furoate-induced-iatrogenic-cushing-syndrome-in-a-pediatric-patient-receiving-anti-retroviral-therapy
#18
S A A van den Berg, N E van 't Veer, J M A Emmen, R H T van Beek
SUMMARY: We present a case of iatrogenic Cushing's syndrome, induced by treatment with fluticasone furoate (1-2 dd, 27.5 µg in each nostril) in a pediatric patient treated for congenital HIV. The pediatric patient described in this case report is a young girl of African descent, treated for congenital HIV with a combination therapy of Lopinavir/Ritonavir (1 dd 320/80 mg), Lamivudine (1 dd 160 mg) and Abacavir (1 dd 320 mg). Our pediatric patient presented with typical Cushingoid features (i...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28458651/a-novel-tbx19-gene-mutation-in-a-case-of-congenital-isolated-adrenocorticotropic-hormone-deficiency-presenting-with-recurrent-respiratory-tract-infections
#19
Nese Akcan, Nedime Serakıncı, Burcu Turkgenc, Ruveyde Bundak, Nerin Bahceciler, Sehime G Temel
INTRODUCTION: Congenital isolated adrenocorticotropic hormone deficiency (CIAD) is a rare disease characterized by low adrenocorticotropic hormone (ACTH) and cortisol levels. To date, recurrent pulmonary infections in infancy have not been reported as an accompanying symptom of CIAD. CASE PRESENTATION: A 7-year-old boy was hospitalized nine times for recurrent lower respiratory tract infections. The results of all tests for the possible causes of wheezing were within the normal limits...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/28444400/effects-of-insufficient-sleep-on-pituitary-adrenocortical-response-to-crh-stimulation-in-healthy-men
#20
Aurore Guyon, Lisa L Morselli, Marcella L Balbo, Esra Tasali, Rachel Leproult, Mireille L'Hermite-Balériaux, Eve Van Cauter, Karine Spiegel
Study Objectives: Severe sleep restriction results in elevated evening cortisol levels. We examined whether this relative hypercortisolism is associated with alterations in the pituitary-adrenocortical response to evening corticotropin-releasing hormone (CRH) stimulation. Methods: Eleven subjects participated in 2 sessions (2 nights of 10 hours vs. 4 hours in bed) in randomized order. Sleep was polygraphically recorded. After the second night of each session, blood was sampled at 20-minute intervals from 09:00 to 24:00 for adrenocorticotropic hormone (ACTH) and cortisol measurements, and perceived stress was assessed hourly...
June 1, 2017: Sleep
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