Steroid hormone analysis in diagnosis and treatment of DSD: position paper of EU COST Action BM 1303 'DSDnet'.

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Term Occurence Count Dictionary
congenital adrenal hyperplasia 1 endocrinologydiseases
cortisol 8 endocrinologydiseasesdrugs
testosterone 9 endocrinologydiseasesdrugs

Graph of close proximity drug and disease terms (within 200 characters).

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Select Drug Character Offset Drug Term Instance
cortisol 6311 11β-HSD1 (HSD11B1). The asterisk (*) indicates the 11-hydroxylation of 17-hydroxyprogesterone to 21-deoxy cortisol in 21-hydroxylase deficiency. The conversion of androstenedione to testosterone is catalysed by HSD17B3
cortisol 17565 International of Weights and Measures (BIPM) (Sevres Cedex, France), currently lists some (e.g. serum cortisol , oestradiol, progesterone and testosterone) but not all steroids important for the assessment of DSD
cortisol 18982 glucocorticoids and if required mineralocorticoids. In serum/plasma, 17-hydroxyprogesterone and 21-deoxy cortisol with or without ACTH stimulation (adrenocorticotropic hormone) are the indicative diagnostic parameters
cortisol 19616 urine or saliva ([42]).11β-Hydroxylase deficiencyIt is characterised by elevated serum/plasma 11-deoxy cortisol and deoxycorticosterone. Individuals with 46,XX DSD suffering from 11β-hydroxylase deficiency also
cortisol 19917 hypokalaemic hypertension is variable. The urinary steroid profile is dominated by elevated tetrahydro-11-deoxy cortisol ([43]).3β-Hydroxysteroid dehydrogenase deficiency (3βHSDD)This condition is clinically characterised
cortisol 21754 17-deoxygenated steroids, e.g. corticosterone, are elevated, whereas 17-oxygenated steroids, such as cortisol and sex steroids, are markedly reduced or absent in serum/plasma. Urinary steroid profile analysis likewise
cortisol 22020 17-oxygenated metabolites ([47]). Patients are clinically often glucocorticoid replete despite impaired cortisol synthesis as corticosterone excess with its glucocorticoid action is compensating for the lack of cortisol.
cortisol 22127 cortisol synthesis as corticosterone excess with its glucocorticoid action is compensating for the lack of cortisol . The deficiency of sex hormone biosynthesis is causing DSD in these individuals. All affected individuals
testosterone 6387 17-hydroxyprogesterone to 21-deoxycortisol in 21-hydroxylase deficiency. The conversion of androstenedione to testosterone is catalysed by HSD17B3 in the gonad and AKR1C3 (HSD17B5) in the adrenal. CYP11A1, P450side-chain cleavage
testosterone 17604 (BIPM) (Sevres Cedex, France), currently lists some (e.g. serum cortisol, oestradiol, progesterone and testosterone ) but not all steroids important for the assessment of DSD (e.g. serum 17-hydroxyprogesterone, androstenedione,
testosterone 17749 for the assessment of DSD (e.g. serum 17-hydroxyprogesterone, androstenedione, cortisone and dihydro testosterone ).Participation in an EQA program is generally recognised to be the central pillar as it provides the
testosterone 18282 differential diagnosis of a DSD. Recently, a first EQA program for the harmonisation of serum dihydro testosterone analysis has been launched ([39]).Position 3: Laboratories should aim to participate in activities of
testosterone 22807 birth. Usually there is some degree of masculinisation at puberty due to increasing concentrations of testosterone . Diagnosis can be established using the ratio of testosterone to dihydrotestosterone in serum/plasma
testosterone 22869 puberty due to increasing concentrations of testosterone. Diagnosis can be established using the ratio of testosterone to dihydrotestosterone in serum/plasma before and after hCG (human chorionic gonadotropin) stimulation
testosterone 22892 concentrations of testosterone. Diagnosis can be established using the ratio of testosterone to dihydro testosterone in serum/plasma before and after hCG (human chorionic gonadotropin) stimulation ([48], [49]). The diagnosis
testosterone 23199 urinary steroid profile ([50]).17β-Hydroxysteroid dehydrogenase type 3 deficiencyDue to the lack of testosterone during male sex differentiation, 46,XY children are often born with almost female-appearing external
testosterone 23377 with almost female-appearing external genitalia ([51]). In serum/plasma, the ratio of androstenedione/ testosterone after hCG stimulation is elevated. Urine steroid metabolomic profiling for this enzyme deficiency might
Select Disease Character Offset Disease Term Instance
congenital adrenal hyperplasia 7093 2A1.The majority of 46,XX infants presenting with virilisation of the external genitalia will have congenital adrenal hyperplasia (CAH). In such cases, a quantification of multiple steroids in a steroid profile is very important to

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