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hypopituitarism

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https://www.readbyqxmd.com/read/29330274/cerebrofacial-arteriovenous-metameric-syndrome-with-hypopituitarism-a-rare-association
#1
Justin Christopher Ng, Chinthaka Appuhamy, Wickly Lee
Case of cerebrofacial arteriovenous metameric syndrome (CAMS) in a 9-year-old boy is described with arteriovenous malformation simultaneously involving the brain and face, with characteristic CAMS type 1 and 2 involvement. This patient demonstrates the wide spectrum of clinical manifestations of CAMS, and in this particular case, the patient exhibits features of hypopituitarism-an association that was not previously described in the literature to our knowledge. Awareness of the underlying embryological abnormality and recognition of resultant clinical and radiological presentations are paramount for diagnosis and treatment...
January 12, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29329447/congenital-hyperinsulinism-and-hypopituitarism-attributable-to-a-novel-mutation-in-foxa2
#2
Mary Ellen Vajravelu, Jinghua Chai, Bryan Krock, Samuel Baker, David Langdon, Craig Alter, Diva D De León
Context: Persistent hypoglycemia in the newborn period most commonly occurs due to hyperinsulinism. The phenotype of hypoketotic hypoglycemia can also result from pituitary hormone deficiencies, including growth hormone and adrenocorticotropic hormone deficiency. Forkhead box A2 (Foxa2) is a transcription factor shown in mouse models to influence insulin secretion by pancreatic beta cells. In addition, Foxa2 is involved in regulation of pituitary development, and deletions of FOXA2 have been linked to panhypopituitarism...
January 10, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29327517/sheehan-s-syndrome-the-most-common-cause-of-panhypopituitarism-at-moderate-altitude-a-sub-himalayan-study
#3
Jatinder Mokta, Asha Ranjan, Surinder Thakur, Rajesh Bhawani, Kiran K Mokta, Jai Bharat Sharma, Manish Kumar
Background: Panhypopituitarism is a rare disorder with varied clinical presentation having various etiologies. Sheehan's syndrome (SS) is decreasing in frequency worldwide and is a rare cause of panhypopituitarism in developed nations. Methodology: A retrospective study done between May 2011 and May 2015 in tertiary care hospital. We reviewed the records of patients with hypopituitarism. Clinical features, hormonal profile and radiological investigations noted. Results: Total 14 patients of panhypopituitarism included with average duration of symptoms 1...
December 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/29314715/outcomes-of-endoscopic-and-microscopic-transsphenoidal-surgery-on-non-functioning-pituitary-adenomas-a-systematic-review-and-meta-analysis
#4
Shi-Yuan Yu, Qiu Du, Si-Yuan Yao, Ke-Nan Zhang, Jian Wang, Zhe Zhu, Xiao-Bing Jiang
Both microscopic and endoscopic transsphenoidal surgery are effective approaches for nonfunctioning pituitary adenomas. The issue on the comparison of their efficacy and safety remains inconsistent. A thorough search of the literatures (PubMed, EMBASE, MEDLINE) were performed up to March 2017. Studies reporting outcomes of microscopic or endoscopic transsphenoidal surgery on nonfunctioning pituitary adenomas were included. A meta-analysis was performed focusing on the early stage and long term outcomes. The final search yielded 19 eligible studies enrolling 3847 patients, 389 of them underwent microscopic approach and 3458 of them with endoscopic approach...
January 4, 2018: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/29303605/neonatal-hypoglycemia-early-onset-diabetes-and-hypopituitarism-due-to-the-mutation-in-eif2s3-gene-causing-mehmo-syndrome
#5
J Stanik, M Skopkova, D Stanikova, K Brennerova, L Barak, L Ticha, J Hornova, I Klimes, D Gasperikova
Recently, the genetic cause of several syndromic forms of glycemia dysregulation has been described. One of them, MEHMO syndrome, is a rare X-linked syndrome recently linked to the EIF2S3 gene mutations. MEHMO is characterized by Mental retardation, Epilepsy, Hypogonadism/hypogenitalism, Microcephaly, and Obesity. Moreover, patients with MEHMO had also diabetes and endocrine phenotype, but detailed information is missing. We aimed to provide more details on the endocrine phenotype in two previously reported male probands with MEHMO carrying a frame-shift mutation (I465fs) in the EIF2S3 gene...
January 5, 2018: Physiological Research
https://www.readbyqxmd.com/read/29299107/the-missing-link-a-case-of-absent-pituitary-infundibulum-and-ectopic-neurohypophysis-in-a-pediatric-patient-with-heterotaxy-syndrome
#6
Adil Omer, Dana Haddad, Leszek Pisinski, Alan V Krauthamer
We report a case of absent pituitary infundibulum and ectopic neurohypophysis in a 4-year-old patient presenting clinically with hypopituitarism as well as heterotaxy syndrome complicated by global developmental delay and growth retardation. The clinical and laboratory workup of our patient suggested underlying hypopituitarism related to either congenital or acquired pathology, necessitating MRI to distinguish between them. We explain the various structural causes of hypopituitarism and detail how to predict the MRI findings and treatment, based on a fundamental understanding of the anatomy and pathophysiology of the hypothalamic pituitary axis and distinguishing anterior versus posterior pituitary hormone derangements...
September 2017: Journal of Radiology Case Reports
https://www.readbyqxmd.com/read/29298966/pregnancy-in-a-woman-with-acromegaly-after-transsphenoidal-partial-resection-of-pituitary-macroadenoma-a-case-report
#7
Katarzyna Tomczyk, Paweł Rzymski, Jakub Woźniak, Maciej Wilczak
Acromegaly is a systemic disease caused by an excessive release of growth hormone and the hypopituitarism, which is induced by macroadenoma local mass effect. The gynecological and obstetric disorders include irregular menstrual cycles, anovulatory cycles and infertility. Therefore, pregnancy in patients affected by the disease is rare. A CASE REPORT: Patient described in this study became pregnant after pharmacological, surgical and infertility treatment. Hence, the following paper presents the course of pregnancy and the discussion of the impact of acromegaly on female fertility, pregnancy, and concerns related to the diagnosis and treatment...
December 22, 2017: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29290265/correlation-between-immune-related-adverse-events-and-efficacy-in-non-small-cell-lung-cancer-treated-with-nivolumab
#8
Koichi Sato, Hiroaki Akamatsu, Eriko Murakami, Seigo Sasaki, Kuninobu Kanai, Atsushi Hayata, Nahomi Tokudome, Keiichiro Akamatsu, Yasuhiro Koh, Hiroki Ueda, Masanori Nakanishi, Nobuyuki Yamamoto
OBJECTIVES: Patients treated with nivolumab often experience its unique adverse events, called immune-related adverse events (irAEs). Regarding the mechanisms of immune-checkpoint inhibitors (ICIs), the occurrence of irAEs may also reflect antitumor responses. Here, we report the clinical correlation between irAEs and efficacy in NSCLC patients treated with nivolumab. MATERIALS AND METHODS: Between December 2015 and February 2017, 38 advanced NSCLC patients were treated in our institution...
January 2018: Lung Cancer: Journal of the International Association for the Study of Lung Cancer
https://www.readbyqxmd.com/read/29283287/hypopituitarism-3-and-12-months-after-traumatic-brain-injury-and-subarachnoid-haemorrhage
#9
Asta Dogg Jonasdottir, Petur Sigurjonsson, Ingvar Hakon Olafsson, Sigurbergur Karason, Gudmundur Sigthorsson, Helga Agusta Sigurjonsdottir
OBJECTIVE: High prevalence of hypopituitarism (HP) has been reported after traumatic brain injury (TBI) and subarachnoid haemorrhage (SAH). The aim of the study was to prospectively evaluate the prevalence and progression of HP in patients after TBI and SAH in Icelandic population. DESIGN: A 12 month prospective single-centre study. METHODS AND PROCEDURES: A total of 27 patients were included, 15 patients with TBI and 12 patients with SAH...
December 28, 2017: Brain Injury: [BI]
https://www.readbyqxmd.com/read/29280026/management-of-non-functioning-pituitary-adenomas-surgery
#10
REVIEW
David L Penn, William T Burke, Edward R Laws
Non-functional pituitary adenomas (NFPAs) are benign tumors of the pituitary gland that do not over-secrete hormonal products, therefore, they are generally detected through symptoms of mass effect, including headache, vision loss, or hypopituitarism. There are multiple pathological subtypes of NFPAs, such as null cell adenomas, silent gonadotrophs, silent somatotrophs, silent corticotrophs, and silent subtype 3, all of which can be classified based on immunohistochemical studies and electron microscopy. Despite these numerous pathological subtypes, surgical resection remains the first-line treatment for NFPAs...
December 26, 2017: Pituitary
https://www.readbyqxmd.com/read/29280025/management-of-nonfunctioning-pituitary-adenomas-nfas-observation
#11
REVIEW
Wenyu Huang, Mark E Molitch
Clinically nonfunctioning pituitary adenomas (NFAs) range from those causing significant hypothalamic/pituitary dysfunction and visual field compromise due to their large size to those being completely asymptomatic. In the absence of hypersecretion, hypopituitarism or visual field defects, patients with NFAs may be followed by periodic surveillance using MRI to detect tumor enlargement. In some cases, endocrine tests are also needed during observation to discover new pituitary dysfunction. Enlargement of NFAs without treatment occurs in about 10% of microadenomas and 23% of macroadenomas...
December 26, 2017: Pituitary
https://www.readbyqxmd.com/read/29261175/identification-of-slc20a1-and-slc15a4-among-other-genes-as-potential-risk-factors-for-combined-pituitary-hormone-deficiency
#12
Franziska Simm, Anne Griesbeck, Daniela Choukair, Birgit Weiß, Nagarajan Paramasivam, Jürgen Klammt, Matthias Schlesner, Stefan Wiemann, Cristina Martinez, Georg F Hoffmann, Roland W Pfäffle, Markus Bettendorf, Gudrun A Rappold
PurposeCombined pituitary hormone deficiency (CPHD) is characterized by a malformed or underdeveloped pituitary gland resulting in an impaired pituitary hormone secretion. Several transcription factors have been described in its etiology, but defects in known genes account for only a small proportion of cases.MethodsTo identify novel genetic causes for congenital hypopituitarism, we performed exome-sequencing studies on 10 patients with CPHD and their unaffected parents. Two candidate genes were sequenced in further 200 patients...
October 26, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29237802/phase-1-dose-escalation-study-of-anti-ctla-4-antibody-ipilimumab-and-lenalidomide-in-patients-with-advanced-cancers
#13
Divya Sakamuri, Isabella C Glitza, Sonia L Betancourt Cuellar, Vivek Subbiah, Siqing Fu, Apostolia M Tsimberidou, Jennifer J Wheler, David S Hong, Aung Naing, Gerald S Falchook, Michelle A Fanale, Maria E Cabanillas, Filip Janku
Preclinical data suggest that combining a check point inhibition with immunomodulatory derivative can increase anticancer response. We designed a dose escalation study using a 3+3 design to determine the safety, maximum tolerated dose (MTD) or recommended phase 2 dose (R2PD) and dose limiting toxicities (DLT) of the anti-CTLA-4 antibody ipilimumab (1.5-3mg/kg intravenously every 28 days x 4) and lenalidomide (10-25mg orally daily for 21 of 28 days until disease progression or unacceptable toxicity) in advanced cancers...
December 13, 2017: Molecular Cancer Therapeutics
https://www.readbyqxmd.com/read/29220526/anti-pd-l1-treatment-induced-central-diabetes-insipidus
#14
Chen Zhao, Sri Harsha Tella, Jaydira Del Rivero, Anuhya Kommalapati, Ifechukwude Ebenuwa, James Gulley, Julius Strauss, Isaac Brownell
Context: Immune checkpoint inhibitors, including anti-PD-1, anti-PD-L1 and anti-CTLA4 monoclonal antibodies, have been widely used in cancer treatment. They are known to cause immune-related adverse events (irAEs), which resemble autoimmune diseases. Anterior pituitary hypophysitis with secondary hypopituitarism is a frequently reported irAE, especially in patients receiving anti-CTLA4 treatment. In contrast, posterior pituitary involvement, such as central diabetes insipidus (DI), is relatively rare and is unreported in patients undergoing PD-1/PD-L1 blockade...
December 6, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29217803/growth-hormone-deficiency-in-children-from-suspecting-to-diagnosing
#15
Varuna Vyas, Anil Kumar, Vandana Jain
Isolated Growth hormone deficiency is an important and treatable cause of short stature. However, it is often difficult to diagnose the condition with certainty due to the lack of a single robust diagnostic test. Short children, other than those with the classical phenotype of immature chubby facies, truncal obesity and micropenis in boys, or those with history of cranial lesions with known association with hypopituitarism, should be evaluated for growth hormone deficiency only after excluding the other more common conditions...
November 15, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/29184808/recovery-of-steroid-induced-adrenal-insufficiency
#16
REVIEW
Areej K Younes, Noor K Younes
Secondary adrenal insufficiency can result from insufficient stimulation of the adrenal glands due to inadequate secretion or synthesis of adrenocorticotropic hormone (ACTH). This can be caused by hypopituitarism, central nervous system injury (tumors, radiation, and surgery) or long-term glucocorticoid therapy. Glucocorticoids were introduced in the 1950s, and have been used for their anti-inflammatory and other pharmacological effects, and also as replacement therapy for adrenal insufficiency. However, chronic glucocorticoid use may lead to suppression of the hypothalamic pituitary adrenal axis through negative feedback...
October 2017: Translational Pediatrics
https://www.readbyqxmd.com/read/29184714/clinical-significance-of-thickened-sphenoid-sinus-mucosa-in-rathke-s-cleft-cyst
#17
Hiroshi Takasuna, Taigen Sase, Hidemichi Ito, Hajime Ono, Kotaro Oshio, Yuichiro Tanaka
Background: To determine the clinical significance of thickening of the sphenoid sinus mucosa (TSSM) in Rathke's cleft cyst (RCC). Methods: We retrospectively reviewed patients with pituitary lesions. A total of 99 patients, who underwent surgery of pituitary lesions between 2008 and 2015, were analyzed to evaluate the clinical significance of TSSM using magnetic resonance imaging. The patients with TSSM were evaluated for their characteristics. Results: Of the 99 operations, 15 patients with paranasal sinusitis, direct invasion to the sellar floor, and/or a history of transsphenoidal surgery were excluded...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/29182204/-long-qt-syndrome-and-polymorphic-ventricular-tachycardia-due-to-hypopituitarism-report-of-one-case
#18
José Miguel García-Castro, Antonia García-Martín, Emilio Guirao-Arrabal, Pedro Luis Carrillo-Alascio
Symptoms of hypopituitarism are usually chronic and nonspecific, but rarely the disease can have acute and life threatening manifestations. We report a 53 years old female with a pituitary adenoma that was admitted to our hospital because of syncope. The electrocardiogram showed sinus bradycardia with a prolonged QT interval. Frequent runs of non-sustained polymorphic ventricular tachycardia were noted on telemetry. The patient had a history of severe acute headaches in the previous days and laboratory tests revealed severe secondary hypothyroidism, adrenal insufficiency and a decrease in pituitary hormones...
July 2017: Revista Médica de Chile
https://www.readbyqxmd.com/read/29180983/therapy-induced-growth-and-sexual-maturation-in-a-developmentally-infantile-adult-patient-with-a-prop1-mutation
#19
Ludmila Brunerova, Ivana Cermakova, Bozena Kalvachova, Jana Skrenkova, Renata Poncova, Petr Sedlak
Background: Hypopituitarism as a result of PROP1 (prophet of PIT1) mutation represents the most common genetic cause of combined deficiency of pituitary hormones and due to growth retardation it is typically diagnosed in childhood. Case description: We present a unique case report of a prepubertal woman with growth retardation in whom combined pituitary hormone deficiency [central hypopituitarism, hypogonadism, and growth hormone (GH) deficiency] caused by homozygous mutation c...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29175558/a-complex-phenotype-in-a-family-with-a-pathogenic-sox3-missense-variant
#20
Anne M Jelsig, Birgitte R Diness, S Sven Kreiborg, Katharina Main, Vibeke A Larsen, Hanne Hove
Duplications and deletions of Xq26-27 including SOX3 (Xq27.1) have been associated with X-linked mental retardation and isolated growth hormone deficiency (OMIM 300123) or X-linked panhypopituitarism (OMIM 312000). Yet, pathogenic point mutations seem to be extremely rare. We report a family with three affected males with several clinical features including mild intellectual disability, microphthalmia, coloboma, hypopituitarism, facial dysmorphology and dental anomalies, including microcephaly, retrognathia and a solitary median maxillary central incisor amongst other features...
November 23, 2017: European Journal of Medical Genetics
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