Endocrine Abstracts

Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome of abnormal phosphate metabolism caused by a small mesenchymal tumor that secrete fibroblast growth factor 23 (FGF23). A 29-year-old female has suffered from two low-traumatic hip fractures, multiple fractures at the pelvic and sacrum, and diffuse bone pain for more than 3 years. Her mobility was limited in the last year (used crutches) because she had severe muscle weakness. Laboratory examination at the time ...

Background: ACTH-ectopic syndrome is a rare cause of endogenous hypercortisolism and may pose serious difficulties in topical diagnosis.Case description: Clinical features of hypercortisolism manifested at the age of 18 years (2012). A year later he was referred to an endocrinologist: ACTH 113 pg/ml (0–46), cortisol in 24-h urine 2915 μg/day (4.3–176), 1 mg DX test cortisol 1020 nmol/l, 8 mg DX test 764 nmol/l, intact pituitary MRI with co...

Endocrine comorbidity is a hot issue in radiation medicine featuring a concomitant radiation injury of several endocrine glands.Objective: Establishing a link of vitamin D deficiency with thyroid and pancreatic disorders among the Chornobyl nuclear power plant (ChNPP) accident survivors.Results: A blind sample (n = 60) of subjects treated at the Radiation Endocrinology department in 2019 were selected for the study. St...

Nuclear corepressor 1 (NCoR) associates with nuclear receptors and other transcription factors leading to transcriptional repression. Genomic studies have shown the presence of inactivating mutations of the NCoR gene in human tumours and we have found that NCoR depletion with siRNA in hepatocarcinoma SK-hep1 cells enhances invasion, tumour growth and metastasis in nude mice, while expression of the thyroid hormone receptor β (TRβ) increases NCoR levels, repr...

Pathogenic ARMC5 variants are the main genetic cause of Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH) explaining roughly 20% of index cases. These variants found both at germline and somatic level are mostly frameshift and nonsense leading to a loss of its function. ARMC5 acts then, as a tumor suppressor gene but little was initially known on its function. Using an RNAseq analysis on transient zebrafish models of Armc5 up- and d...

ACTH independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing’s syndrome. Both Phosphodiesterase 11A4 (PDE11A4) mutations and inactivating mutations of armadillo repeat containing 5(ARMC5) have been associated with familial AIMAH. A family with autosomal dominant AIMAH was studied trying to elucidate the involved genetic basis.Methods and results: Adrenal hypercortisolism with giant bilateral AH was diagnosed in three adult me...

Context: Hair cortisol has been recently studied to determine evidence of hypercortisolemia in humans. This test may be valuable in estimating cortisol levels, particularly in patients with cyclical Cushing’s syndrome (CS).Objective: To determine correlations with biochemical evidence of CS, and to compare hair cortisol measurements in patients with CS to normative data.Methods: Hair samples from 49 study subjects were collect...

Background: General anaesthesia and surgical intervention in humans are known to affect the function of the hypothalamic–pituitary–adrenal axis (HPA). In the literature there are conflicting reports about the effect of propofol, a commonly used intravenous anaesthetic agent, on HPA function.Case reports: We report two males (11 and 12 years) with ACTH-dependent Cushing syndrome (CS) who underwent inferior petrosal sinus sampling (IPSS) with gen...

Background: Various genetic syndromes have identified distinct and consistent behavior patterns. Carney complex (CNC) is a rare multiple endocrine neoplasia syndrome first described by Dr Carney in 1985 as a complex of myxomas (cardiac, skin), spotty skin pigmentation, and endocrine over activity. CNC is caused by mutations of the PRKARIA gene that encodes the RIα regulatory subunit of Protein kinase A (PKA). We recently reported that a Prkar1a heterozyg...

Bilateral Adrenal Hyperplasias (BAH) are responsible for approximately 10% of ACTH-independent Cushing syndrome and are classified as either micronodular or macronodular. Whereas Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and isolated Micronodular Adrenal Disease (iMAD) are two types of micronodular hyperplasia, Primary Macronodular Adrenal Hyperplasia (PMAH) is a macronodular BAH. These tumors are classified differently based on clinical, histological and geneti...