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Congenital Adrenal Hyperplasia
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
As CAH shows autosomal dominant inheritance, prenatal diagnosis (by ultrasound or chorionic villus sampling or amniocentesis for elevated levels of 17-ketosteroids, pregnanetriol, and 17-OHP) and preimplantation genetic testing (CYP21A2 pathogenic variant) may be offered to prospective parents with affected relatives.
Section 3
Published in Padmanabhan Ramnarayan, MCQs in Paediatrics for the MRCPCH, Part 1, 2017
3.8 A child aged 10 days has ambiguous genita lia:If a buccal smear is chromatin negative, there is a serious risk of an Addisonian crisisA raised urinary output of pregnanetriol would confirm a diagnosis of CAHThe finding of the genotype 45 XO would reliably explain the anomalyIf testicles were present in the 'labia', an acceptable explanation would be Klinefelter's syndromeThe most important factor in deciding the sex to which the child should be assigned is the genetic (chromosomal) sex
Effects of night shift on the cognitive load of physicians and urinary steroid hormone profiles – a randomized crossover trial
Published in Chronobiology International, 2018
Wolf Osterode, Sandra Schranz, Galateja Jordakieva
Concerning our second aim of the study namely to investigate changes of steroid hormones after 24 h on duty (Table 3), mostly no significant dynamics were found. Only pregnanetriol and the ratio of androsterone/etiochoanolone were found to be reduced after 24 h on duty. Pregnanetriol is a urinary metabolite of 17-alpha-hydroxyprogesterone and a precursor in the biosynthesis of cortisol. While Vierhapper and Nowotny found an enormous enhanced excretion of glucocorticoids and main androgen metabolites after a night shift by male residents, Singer and Zumoff reported a suppression of these steroids, which would support the fact that stress and sleep deprivation suppress gonadal steroids. We may assume that stress and sleep deprivation were not extensive enough in our collective to exhibit clear steroid dynamics, which on the other hand justifies the reduction of longer time on duty and reduced responsibility for more medical departments in former times. The excretion ratio of androsterone/etiocholanolone indeed showed significant alterations implicating disturbances of an androgen metabolism. The change in the ratio of androsterone to etiocholanolone in favor of the latter implies hypothalamus involvement in androgen metabolism dynamics (Johnsen 1968).
Noninvasive urine metabolomics of prostate cancer and its therapeutic approaches: a current scenario and future perspective
Published in Expert Review of Proteomics, 2021
Deepak Kumar, Kavindra Nath, Hira Lal, Ashish Gupta
Amante et al. applied an untargeted GC-MS based metabolomics approach and observed that observed the following as discriminant urinary metabolites of PC from BPH: androsterone, 16-hydroxydehydroisoandrosterone, 5-β-pregnanediol, enterodiol, pregnanetriol, 5-hydroxyindoleacetic acid, and vanillyl alcohol [74]. A panel of the above metabolites provided discriminant potential for PC cohorts with a sensitivity of 92.5 ± 2.2% and a specificity of 88.7 ± 3.9% [74].