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Cracking the code of aldosterone synthase deficiency: bridging genetics and biochemistry: a case report.
Lab Med
December 2024
Department of Pediatrics, AIIMS Patna, Patna, Bihar, India.
Objective: Aldosterone synthase deficiency (ASD) is a rare autosomal recessive inherited disease with an overall clinical phenotype of failure to thrive, vomiting, severe dehydration, hyperkalemia, and hyponatremia. Mutations in the CYP11B2 gene encoding AS are responsible for the occurrence of ASD. Defects in CYP11B2 gene have only been reported in a limited number of cases worldwide.
View Article and Find Full Text PDFAn LC-MS/MS assay for simultaneous determination of 13 steroid hormones and two synthetic steroids in saliva: potential utility for paediatric population and beyond.
Scand J Clin Lab Invest
December 2024
Hormone Laboratory, Department of Medical Biochemistry and Biochemical Endocrinology and Metabolism Research Group, Oslo University Hospital, Aker, Oslo, Norway.
Saliva samples offer the possibility to obtain stress-free non-invasive samples, also for home-testing, especially useful when blood collection is either undesirable or difficult. The aim of this work was to develop an LC-MS/MS method to determine clinically relevant steroid hormones cortisol, cortisone, 11-deoxycortisol, 21-deoxycortisol, 17OH-progesterone, aldosterone, corticosterone, deoxycorticosterone, testosterone, androstenedione, DHEAS, DHEA, 17OH-pregnenolone, betamethasone and dexamethasone. A special effort was made to adapt the method to neonatal population with respect to choice of saliva as matrix, low sample volumes, selection of analytes and multiplexing.
View Article and Find Full Text PDFFurther characterization of adrenocortical and thyroid hormone concentrations of leatherback turtles () under various stressors, including validation of a plasma aldosterone assay.
Conserv Physiol
December 2024
Anderson Cabot Center for Ocean Life, New England Aquarium, 1 Central Wharf, Boston, MA 02110, USA.
Leatherback turtles () are endangered by anthropogenic threats. Characterizing the physiologic response of leatherback turtles under various stressors may inform conservation strategies. In this study, a commercially available enzyme immunoassay for aldosterone was validated for leatherback turtle plasma, and it was used with previously validated assays for corticosterone and free thyroxine (fT4) to evaluate the physiologic status of leatherback turtles that were entangled in fishing gear, stranded on shore, nesting or intentionally captured at sea during ecologic studies.
View Article and Find Full Text PDFImpact of Exposure to a Mixture of Organophosphate Esters on the Adrenal Glands of Sprague Dawley Rats.
Toxicol Sci
December 2024
Department of Pharmacology & Therapeutics, McGill University, Montreal, QC, H3G 1Y6, Canada.
There is growing evidence that organophosphate esters (OPEs) can act as endocrine-disrupting chemicals. However, only a few studies have assessed the effects of OPE exposure on one of the most important endocrine glands in the body, the adrenal gland. Our aim was to test the effects of a mixture of OPEs detected in Canadian house dust on adrenal function in Sprague Dawley rats.
View Article and Find Full Text PDFGlucocorticoids and mineralocorticoids in hair: facilitating accurate diagnosis of adrenal-related endocrine disorders.
Front Endocrinol (Lausanne)
November 2024
Department of Biochemistry, Stellenbosch University, Stellenbosch, South Africa.
Article Synopsis
- A study was conducted to investigate the presence of mineralocorticoids and glucocorticoids, particularly focusing on aldosterone and 18-hydroxycorticosterone, in hair follicles, which has not been reported before.
- Hair samples from 15 healthy volunteers were analyzed using advanced extraction and mass spectrometry techniques, allowing for the detection of various steroids without significant differences between genders.
- Notable findings included the detection of deoxycortisol, deoxycorticosterone, and 18-hydroxycorticosterone for the first time in hair, showing variability in levels for some steroids but stability in others across individuals.
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