From first symptoms to final diagnosis of Cushing's disease: experiences of 176 patients

Kreitschmann-Andermahr, Ilonka; Psaras, Tsambika; Tsiogka, Maria; Starz, Daniel; Kleist, Bernadette; Siegel, Sonja; Milian, Monika; Kohlmann, J.; Menzel, Christa; Führer, Dagmar; Honegger, Jürgen; Sure, Ulrich; Müller, Oliver; Buchfelder, Michael

doi:10.1530/eje-14-0766e

Cited by 9 publications

(11 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…(7,13). The delay of diagnosis varies, a median of 2 years have been reported (13,14). The pituitary tumour removal is the first line of therapy but alternatives like pasireotide, cabergoline, pituitary radiotherapy, bilateral adrenalectomy, etc.…”

Section: Cushing's Diseasementioning

confidence: 99%

Functioning pituitary tumours: Hints from the skin

Şandru¹,

Pharmacy²,

Valea³

et al. 2020

Ro Med J.

View full text Add to dashboard Cite

We introduce dermatological aspects from an endocrine point of view related to pituitary tumours that display active secretor activity. This is a short literature review. 40 papers are cited including narrative reviews and original studies. Acromegaly: GH overproduction causes the thickening of the skin and swelling of the soft tissues in addition to the enlargement of extremities (like nose, hands, feet, jaw), coarsening of facial features (as front head and naso-labial folds), excessive sweating, exaggerate skin wrinkles, oily skin, and acrochordons. Cushing's disease: cortisol overproduction has a severe protein catabolic effect at skin with collagen network disruption while immune effect of hypercortisolemia induces chronic skin infections and difficulties in wound healing. In females, consecutive androgens excess induces acne, hirsutism, and androgens-related alopecia. The classical phenotype includes: fragile skin or skin atrophy, red/purple striae, easy bruising, facial plethora. Skin changes represent the window to pituitary tumours for clinicians of different specialities, therefore contributing to final diagnosis of endocrinopathies.

show abstract

Section: Cushing's Diseasementioning

confidence: 99%

Functioning pituitary tumours: Hints from the skin

Şandru¹,

Pharmacy²,

Valea³

et al. 2020

Ro Med J.

View full text Add to dashboard Cite

show abstract

“…Cushing's disease (CD) is a rare disease caused by pituitary adrenocorticotropic hormone (ACTH) adenoma, characterized by severe chronic hypercortisolemia, accounting for about 14% of all pituitary adenoma and about 70% of Cushing's syndrome [1] , most of which are microadenoma (MIC) less than 1 cm in diameter, and macroadenoma (MAC) accounts for only 10%-20% [2] . Patients with CD often have multiple serious complications due to hypercortisolemia, such as hypertension, diabetes, hyperlipidemia, osteoporosis, and mental depression.…”

Section: Introductionmentioning

confidence: 99%

“…Patients with CD often have multiple serious complications due to hypercortisolemia, such as hypertension, diabetes, hyperlipidemia, osteoporosis, and mental depression. Untreated patients with CD often die from severe cardio-cerebrovascular diseases and severe infections [2] . The treatment of CD is mainly surgical treatment of trans nasal butter y and ACTH pituitary adenoma [3] , drug treatment [4] , pituitary radiotherapy and bilateral adrenalectomy as adjuvant treatment methods.…”

Section: Introductionmentioning

confidence: 99%

Identification of differentially expressed genes in Cushing's disease by integrated bioinformatics analysis

Lv¹,

Yu²,

Ren³

et al. 2020

Preprint

View full text Add to dashboard Cite

Background Cushing's disease is a rare and little-known disease, and the individualization of drug treatment varies greatly. Studies have shown that the gene expression profile of Cushing's disease is related to its clinical characteristics. Therefore, the study aims to identify key differential genes between the age and size of tumors through bioinformatics technology, thus providing a theoretical basis for personalized targeted therapy of Cushing's disease. Methods Downloading the gene expression microarray (GSE93825) data from the Gene Expression Omnibus (GEO) database and obtaining differentially expressed genes (DEGs) of different tumor sizes and ages through GEO2R. The DAVID database, Cytoscape and String platforms were utilized for functional enrichment analysis and protein-protein interaction (PPI) network analysis on selected differential genes. Results First, 96 DEGs were identified between macroadenoma (MAC) and microadenoma (MIC), which initially proved the different gene expression characteristics between them. Second, a total of 2128 DEGs were identified in MAC age group. The top five hub genes of the PPI network were GNGT2, LPAR3, PDYN, GRM3, and HTR1D. A total of 16 DEGs were identified in MIC age group. In addition, 88 DEGs were identified in younger MAC and MIC groups. The top five hub genes included LEP, PTGS2, STAT6, CXCL12, and ITPKB. 299 DEGs were identified in senior MAC and MIC groups. The first five hub genes were CCR7, LPAR2, CXCR5, ADCY3, and TAS2R14. By virtue of DAVID and Cytoscape software, the function enrichment analysis and core module analysis were performed successfully. Conclusions In summary, our research shows through bioinformatics analysis that different gene expression profiles of Cushing's disease are related to the size and age of the tumor, which may provide new insights into the molecular pathogenesis of Cushing's disease. These hub genes may be used for accurate diagnosis and treatment of Cushing's disease.

show abstract

“…Clinicians and patients find themselves frustrated with the complexity of diagnosis, given that some of the tests may have to be repeated a number of times. While some patients with Cushing syndrome have classical features of the disease (obesity, buffalo hump, stretch marks, hyperglycemia), many have fewer, transient or cycling hypercortisolemic peaks [2,3] with diagnosis achieved only after several years and consultations [4]. Given this unpredictable pattern, physicians often are not able to detect elevated cortisol levels, since most current tests (24 h urine free cortisol, 1-mg overnight or 2-mg 48 h dexamethasone suppression tests, late night salivary cortisol) are not able to provide retrospective analysis of hypercortisolism.…”

Section: Introductionmentioning

confidence: 99%

Mini-review of hair cortisol concentration for evaluation of Cushing syndrome

Hodes

Meyer

Lodish

et al. 2018

Expert Review of Endocrinology & Metabolism

View full text Add to dashboard Cite

The diagnosis of endogenous Cushing syndrome is often challenging and requires multiple repeated blood, urine, and saliva tests to detect elevated cortisol levels. Hair cortisol concentration has been described as a marker of long-term exposure to systemic cortisol in patients with Cushing syndrome. Like hemoglobin A1c is used to detect serum glucose exposure over months, segmental hair cortisol can help identify patients with milder forms of and/or periodic or cyclical Cushing syndrome, which may reduce time and costs associated with collection of urine, salivary, and serum cortisol. Areas covered: Success of hair cortisol in detection of Cushing syndrome will be discussed in context of current literature, including differences between total or segmental hair cortisol in accurately determining timeline of cortisol exposure. Optimal methods of hair collection, storage, processing, and analysis and efforts toward standardization will be a major focus. Expert commentary: Recent evidence suggests increased sensitivity and specificity of hair cortisol in detecting Cushing syndrome. Future guidelines should consider this test as a routine part of the repertoire of screening tests for Cushing syndrome. Possible confounders to explain discrepant results in the literature will be discussed.

show abstract

From first symptoms to final diagnosis of Cushing's disease: experiences of 176 patients

Cited by 9 publications

References 0 publications

Functioning pituitary tumours: Hints from the skin

Functioning pituitary tumours: Hints from the skin

Identification of differentially expressed genes in Cushing's disease by integrated bioinformatics analysis

Mini-review of hair cortisol concentration for evaluation of Cushing syndrome

Contact Info

Product

Resources

About