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Primary bilateral macronodular adrenal hyperplasia: A rare case report of Cushing syndrome and review of literature.
Medicine (Baltimore)
October 2024
Department of Endocrinology, Vali-Asr Hospital, Imam Khomeini Hospital Complex, Tehran University of Medical Sciences, Tehran, Iran.
Article Synopsis
- Primary bilateral macronodular adrenal hyperplasia (PBMAH) is a rare condition that causes Cushing syndrome (CS) and can be challenging to diagnose, making up less than 2% of CS cases.
- The case involves a 52-year-old woman experiencing multiple symptoms including fever, fatigue, and bruising, leading to an eventual diagnosis of PBMAH after lab tests and an abdominal CT scan showed increased cortisol levels and adrenal masses.
- Although the patient underwent surgery to remove one adrenal gland and her symptoms improved, she continues to rely on glucocorticoid therapy a year later, highlighting the need for more research on effective treatment options for PBMAH.
Delineating endogenous Cushing's syndrome by GC-MS urinary steroid metabotyping.
EBioMedicine
January 2024
Division of Pediatric Endocrinology & Diabetology, Laboratory for Translational Hormone Analysis in Pediatric Endocrinology, Steroid Research & Mass Spectrometry Unit, Center of Child and Adolescent Medicine, Justus-Liebig-University, Feulgenstr. 10-12, Giessen 35392, Germany. Electronic address:
Background: Diagnosing Cushing's syndrome (CS) is highly complex. As the diagnostic potential of urinary steroid metabolome analysis by gas chromatography-mass spectrometry (GC-MS) in combination with systems biology has not yet been fully exploited, we studied a large cohort of patients with CS.
Methods: We quantified daily urinary excretion rates of 36 steroid hormone metabolites.
Atypical Presentation and Course of ACTH-independent Cushing's Syndrome in Two Families.
J Clin Res Pediatr Endocrinol
December 2023
Pediatric Endocrinology, Dokuz Eylül University, Faculty of Medicine, İzmir, Turkey.
Primary pigmented nodular adrenocortical disease (PPNAD) is a rare genetic disease mainly associated with Carney complex (CNC), which is caused by germline mutations of the regulatory subunit type 1A (RIα) of the cAMP-dependent protein kinase (PRKAR1A) gene. We report three cases suffering from CNC with unique features in diagnosis and follow-up. All cases had obesity and a cushingoid appearance and exhibited laboratory characteristics of hypercortisolism.
View Article and Find Full Text PDF[Macronodular adrenal hyperplasia causing Cushing's syndrome due to ARMC5 gene mutation.].
Orv Hetil
August 2023
2 Semmelweis Egyetem, Belgyógyászati és Onkológiai Klinika, Endo-ERN Központ Budapest, Korányi S. u. 2/A, 1083 Magyarország.
Our 69-year-old female patient was investigated for a 20 kg weight gain over 2 years. The patient's medical history included hypertension, hyperuricemia, bilateral cataract surgery and musculosceletal complaints. Diabetes mellitus was not found.
View Article and Find Full Text PDFARMC5-negative primary bilateral macronodular adrenal hyperplasia.
BMJ Case Rep
July 2023
Beta Cell Neogenesis Unit, Vrije Universiteit Brussel, Jette, Belgium
A woman in her 60s with chronic fatigue, depressed mood and proximal muscle weakness was referred to our endocrinology department. Physical examination revealed facial plethora, atrophic skin and ankle oedema. Adjuvant blood and urine analyses indicated endogenous ACTH-independent Cushing syndrome.
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