Familial adenomatous polyposis (FAP) is an autosomal dominant condition characterized by multiple colorectal adenomas that can progress to carcinoma. FAP can be associated with diverse extracolonic manifestation, including desmoid tumors and adrenal masses. We report our experience with a patient diagnosed of FAP, who developed a desmoid tumor and an adrenal mass in the follow-up. To our knowledge, this is the first case in the literature in which a hypersecretion of aldosterone and cortisol in the adrenal mass of a patient diagnosed of FAP has been demonstrated.
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http://dx.doi.org/10.1159/000094742 | DOI Listing |
Arch Pediatr
January 2025
Department of Pediatrics, Hedi Chaker Hospital, Sfax, Tunisia; Faculty of Medicine of Sfax, University of Sfax, Sfax, Tunisia.
Background: Primary adrenal insufficiency (PAI) is a rare but potentially life-threatening condition. Congenital adrenal hyperplasia (CAH) is the most common cause of PAI in children. To date, numerous non-CAH causes have been identified through genetic analysis but they remain poorly characterized.
View Article and Find Full Text PDFObjectives: Primary Aldosteronism (PA) is a common but under-recognised cause of secondary hypertension. Early diagnosis with targeted medical and/or surgical intervention is important to prevent irreversible end-organ damage. An Endocrine Society Clinical Practice Guideline was used to define audit standards against which to assess current United Kingdom (UK) laboratory practice.
View Article and Find Full Text PDFJ Endocrinol Invest
January 2025
Institute of Endocrinology, Beilinson Hospital, Rabin Medical Center, Petach Tikva, 49100, Israel.
Context: Leukocytosis frequently noted in Cushing's syndrome (CS), along with other blood cell changes caused by direct and indirect cortisol effects.
Objective: Assess baseline white blood cell (WBC) profile in CS patients compared to controls and WBC changes pre- and post-remission after surgical treatment for CS.
Design: A comparative nationwide retrospective cohort study.
JCEM Case Rep
February 2025
Section of Endocrinology and Metabolism, Department of Internal Medicine, West Virginia University School of Medicine, Morgantown, WV 26505, USA.
Endocrine
January 2025
Department of Endocrinology and Metabolic Diseases, Manisa Celal Bayar University Hospital, Manisa, Turkey.
Purpose: Our study evaluated skeletal muscle mass, function and quality among mild autonomous cortisol secretion (MACS) patients and non-functioning adrenal incidentaloma (NFAI) patients in comparison with the control group without adrenal mass.
Methods: 63 NFAI (49 female, 14 male) and 31 MACS (24 female, 7 male) patients were included in the study. As the control group, 44 patients (31 women, 13 men) who were known to have no radiological adrenal pathology on computed tomography or magnetic resonance imaging performed for other reasons were selected.
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