Profiling steroid hormones in amniotic fluid of midpregnancy by routine stable isotope dilution/gas chromatography-mass spectrometry: reference values and concentrations in fetuses at risk for…
- S. Wudy, H. Dörr, C. Solleder, M. Djalali, J. Homoki
- Medicine, BiologyJournal of Clinical Endocrinology and Metabolism
- 1 August 1999
This study provides the first mass spectrometric reference data on amniotic fluid steroid concentrations and underscores the high accuracy of prenatal hormonal diagnosis of 21-hydroxylase deficiency and proposed for routine use in clinical steroid analysis whenever maximal reliability is requested.
25-hydroxyvitamin D, 24, 25-dihydroxyvitamin D and 1,25-dihydroxyvitamin D in human cerebrospinal fluid
- S. Balabanova, H. Richter, W. Teller
- Medicine, BiologyKlinische Wochenschrift
- 15 November 1984
The authors' findings showed vitamin D metabolites to be present in human CSF and plasma from 46 adult patients who had no endocrine disorders and were undergoing routine diagnostic lumbar puncture because of suspected or proved prolapse of a disc.
Leydig cell hypoplasia: absent luteinizing hormone receptor cell surface expression caused by a novel homozygous mutation in the extracellular domain.
- A. Richter-Unruh, M. Verhoef-Post, S. Malak, J. Homoki, B. Hauffa, A. Themmen
- BiologyJournal of Clinical Endocrinology and Metabolism
- 1 October 2004
Comparison of the theoretical molecular models of the extracellular domain of the wild-type and the mutant receptor suggests that the mutation LHR-V144F, located in the outer circumference in a alpha-helix of the leucine-rich repeat 4, may induce a conformational strain on the molecule.
Thyroid Autoimmunity in Children and Adolescents with Type 1 Diabetes mellitus
- R. Holl, B. Bohm, U. Loos, M. Grabert, E. Heinze, J. Homoki
- Medicine, BiologyHormone Research in Paediatrics
- 1 September 1999
Thyroid autoimmunity is prevalent in children and adolescents with type 1 diabetes, and adolescent girls and young women are especially affected.
17α-Hydroxyprogesterone, 4-Androstenedione, and Testosterone Profiled by Routine Stable Isotope Dilution/Gas Chromatography-Mass Spectrometry in Plasma of Children
- S. Wudy, U. Wachter, J. Homoki, W. Teller
- Medicine, BiologyPediatric Research
- 1 July 1995
This study demonstrated the applicability of ID/GC-MS to routine clinical steroid analysis and recommended the application whenever problems from matrix effects or cross-reactivity are likely to arise or suspicious results by immunoassays need to be rechecked.
Point mutation of Arg440 to His in cytochrome P450c17 causes severe 17 alpha-hydroxylase deficiency.
- C. Fardella, D. Hum, J. Homoki, W. Miller
- BiologyJournal of Clinical Endocrinology and Metabolism
- 1 July 1994
15 different P450c17 mutations have been described in 23 patients with 17 alpha-hydroxylase deficiency, indicating that mutations in this gene are due to random events.
Suppression of Growth Hormone by Oral Glucose in the Evaluation of Tall Stature
- R. Holl, P. Bucher, W. Sorgo, E. Heinze, J. Homoki, K. Debatin
- MedicineHormone Research in Paediatrics
- 1 January 1999
Excess secretion of growth hormone is a rare diagnosis in children or adolescents with tall stature. An oral glucose tolerance test (OGT) with determination of growth hormone is generally recommended…
Androgen metabolism assessment by routine gas chromatography/mass spectrometry profiling of plasma steroids: part 1, unconjugated steroids
- S. Wudy, U. Wachter, J. Homoki, W. Teller, C. Shackleton
- BiologySteroids
- 1 July 1992
Hormonal diagnosis of 21-hydroxylase deficiency in plasma and urine of neonates using benchtop gas chromatography-mass spectrometry.
- S. Wudy, M. Hartmann, J. Homoki
- Medicine, BiologyJournal of Endocrinology
- 1 June 2000
ID/GC-MS is suggested, which provides the highest specificity in steroid analysis, for checking suspicious concentrations of 17OH-P in neonates and the potential of urinary steroid profiling by GC-MS as a rapid, non-invasive and non-selective confirmatory test for congenital adrenal hyperplasia is underscored.
TSH receptor mutation V509A causes familial hyperthyroidism by release of interhelical constraints between transmembrane helices TMH3 and TMH5.
- B. Karges, G. Krause, J. Homoki, K. Debatin, N. de Roux, W. Karges
- Biology, MedicineJournal of Endocrinology
- 1 August 2005
Mutations of the human thyrotrophin receptor (TSH-R) are a cause of thyroid adenomas and hyperthyroidism. Here we study mechanisms of receptor activation in a genomic TSH-R variant V509A located in…
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