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Peter Kamenicky

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Articles 105
Citations 2385
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Recent Articles
1.
Bouys L, Vaduva P, Jouinot A, Violon F, Vaczlavik A, Barat M, et al.
Eur J Endocrinol . 2025 Feb; 192(2):119-127. PMID: 39921449
Objective: ARMC5 is the most prevalent gene predisposing to primary bilateral macronodular adrenal hyperplasia (PBMAH), but germline KDM1A variants have been identified in the rare PBMAH associated with food-dependent Cushing's...
2.
Bouys L, Vaczlavik A, Cavalcante I, Violon F, Jouinot A, Berthon A, et al.
Orphanet J Rare Dis . 2025 Feb; 20(1):51. PMID: 39910635
Background: Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH) is a rare cause of Cushing's syndrome due to bilateral adrenocortical macronodules. Germline inactivating variants of the tumor suppressor gene ARMC5 are responsible...
3.
Haffner D, Emma F, Seefried L, Hogler W, Javaid K, Bockenhauer D, et al.
Nat Rev Nephrol . 2025 Feb; PMID: 39905262
No abstract available.
4.
Kamenicky P, Mirallie E, Hindie E, Vantyghem M, Brunaud L
Ann Endocrinol (Paris) . 2025 Jan; 86(1):101689. PMID: 39818296
This consensus on primary hyperparathyroidism, drawn up under the aegises of the French Society of Endocrinology (SFE), French speaking Association of Endocrine Surgery (AFCE) and French Society of Nuclear Medicine...
5.
Kamenicky P, Houillier P, Vantyghem M
Ann Endocrinol (Paris) . 2025 Jan; 86(1):101693. PMID: 39818292
The differential diagnosis of primary hyperparathyroidism can be considered clinically, biologically and radiologically. Clinically, primary hyperparathyroidism should be suspected in case of diffuse pain, renal lithiasis, osteoporosis, repeated fracture, cognitive...
6.
Lecoq A, Jannin A, Cirenei C, Chereau N, Osman D, Kamenicky P
Ann Endocrinol (Paris) . 2025 Jan; 86(1):101701. PMID: 39818286
Preoperative treatment of PHPT aims to (1) manage severe and/or symptomatic hypercalcemia and (2) prevent postoperative hypocalcemia. Severe hypercalcemia, defined as a blood calcium level≥3.5mmol/L, requires admission to hospital in...
7.
Haffner D, Emma F, Seefried L, Hogler W, Javaid K, Bockenhauer D, et al.
Nat Rev Nephrol . 2025 Jan; PMID: 39814982
X-linked hypophosphataemia (XLH) is a rare metabolic bone disorder caused by pathogenic variants in the PHEX gene, which is predominantly expressed in osteoblasts, osteocytes and odontoblasts. XLH is characterized by...
8.
Wolf P, Travers S, Domenig O, Baron S, Blanchard A, Bouazizi K, et al.
Endocr Connect . 2025 Jan; 14(2). PMID: 39804209
Background: Arterial hypertension and left ventricular hypertrophy and remodeling are independent cardiovascular risk factors in patients with Cushing's syndrome. Changes in the renin-angiotensin system and in the mineralocorticoid axis activity...
9.
Vaduva P, Bouys L, Jouinot A, Espiard S, Chansavang A, Berthon A, et al.
J Clin Endocrinol Metab . 2025 Jan; PMID: 39774659
Purpose: Primary bilateral macronodular adrenal hyperplasia (PBMAH), the most common cause of Cushing's syndrome due to bilateral nodules, is a heterogeneous disease at the clinical, hormonal and morphological levels. ARMC5...
10.
Laulhe M, Yacobi Bach M, Perrot J, Gershinsky M, Fagart J, Shefer G, et al.
J Clin Endocrinol Metab . 2024 Nov; PMID: 39607699
Introduction: Primary generalized glucocorticoid resistance syndrome (GGRS) is a rare endocrine disease caused by loss-of-function variants of the NR3C1 gene encoding the Glucocorticoid Receptor. We describe a novel heterozygous missense...