The role of DHEA sulfation in childhood androgen excess

Research output

Research output per year 2011 2011 2013 2015 2016 2021

• 11 Article
• 1 Review article

Research output per year

Research output per year

Search results

• 2021

  The broad phenotypic spectrum of 17α-hydroxylase/17,20-lyase (CYP17A1) deficiency: a case series

  Sun, M., Mueller, J. W., Gilligan, L. C., Taylor, A. E., Shaheen, F., Noczyńska, A., T'Sjoen, G., Denvir, L., Shenoy, S., Fulton, P., Cheetham, T. D., Gleeson, H., Rahman, M., Krone, N. P., Taylor, N. F., Shackleton, C. H. L., Arlt, W. & Idkowiak, J., 11 Oct 2021, In: European Journal of Endocrinology . 185, 5, p. 729-741 13 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Steroid 17-alpha-Hydroxylase 100%
  • Mixed Function Oxygenases 77%
  • Hydrocortisone 61%
  • Steroids 51%
  • Congenital Adrenal Hyperplasia 30%
  82 Downloads (Pure)
• 2019

  Steroid metabolome analysis in disorders of adrenal steroid biosynthesis and metabolism

  Storbeck, K-H., Schiffer, L., Baranowski, E., Chortis, V., Prete, A., Barnard, L., Gilligan, L., Taylor, A., Idkowiak, J., Arlt, W. & Shackleton, C., Dec 2019, In: Endocrine Reviews. 40, 6, p. 1605-1625 21 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Metabolome 100%
  • Steroids 66%
  • Mass Spectrometry 18%
  • Glandular and Epithelial Neoplasms 8%
  • Machine Learning 7%
  15 Citations (Scopus)

  186 Downloads (Pure)
• 2016

  Evidence for Increased 5α-Reductase Activity During Early Childhood in Daughters of Women with Polycystic Ovary Syndrome

  Arlt, W., Torchen, L., Idkowiak, J., Fogel, N., O'Neil, D., Shackleton, C. & Dunaif, A., May 2016, In: Journal of Clinical Endocrinology and Metabolism. 101, 5, p. 2069-2075 7 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Androgen 100%
  • Polycystic Ovary Syndrome 88%
  • Nuclear Family 85%
  • Oxidoreductases 72%
  • Androgens 50%
  30 Citations (Scopus)

  152 Downloads (Pure)

• Steroid sulfatase sulfatase deficiency and androgen activation before and after puberty

  Idkowiak, J., Taylor, A. E., Subtil, S., O'neil, D. M., Vijzelaar, R., Dias, R. P., Amin, R., Barrett, T. G., Shackleton, C. H. L., Kirk, J. M. W., Moss, C. & Arlt, W., 2 Jun 2016, In: Journal of Clinical Endocrinology and Metabolism. 101, 6, p. 2545-53 9 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Steryl-Sulfatase 100%
  • Sulfatases 92%
  • Androgen 80%
  • Puberty 67%
  • Steroid 58%
  19 Citations (Scopus)

  205 Downloads (Pure)
• 2015

  PAPSS2 deficiency causes androgen excess via impaired DHEA sulfation—in vitro and in vivo studies in a family harboring two novel PAPSS2 mutations

  Oostdijk, W., Idkowiak, J., Mueller, J. W., House, P. J., Taylor, A. E., O'reilly, M. W., Hughes, B. A., De Vries, M. C., Kant, S. G., Santen, G. W. E., Verkerk, A. J. M. H., Uitterlinden, A. G., Wit, J. M., Losekoot, M. & Arlt, W., 1 Apr 2015, In: Journal of Clinical Endocrinology and Metabolism. 100, 4, p. E672-E680

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Dehydroepiandrosterone 100%
  • Androgen 89%
  • Androgens 64%
  • Mutation 59%
  • In Vitro Techniques 31%
  41 Citations (Scopus)

  149 Downloads (Pure)

• Role of ALADIN in human adrenocortical cells for oxidative stress response and steroidogenesis

  Jühlen, R., Idkowiak, J., Taylor, A. E., Kind, B., Arlt, W., Huebner, A. & Koehler, K., 13 Apr 2015, In: PLoS ONE. 10, 4, e0124582.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Achalasia Addisonianism Alacrimia syndrome 100%
  • steroidogenesis 65%
  • Cytochrome P450 60%
  • Oxidative Stress 56%
  • Cytochrome P-450 Enzyme System 55%
  26 Citations (Scopus)

• The Regulation of Steroid Action by Sulfation and Desulfation

  Mueller, J. W., Gilligan, L. C., Idkowiak, J., Arlt, W. & Foster, P. A., Oct 2015, In: Endocrine Reviews. 36, 5, p. 526-563 38 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Steroids 100%
  • Anions 41%
  • X-Linked Ichthyosis 31%
  • Steryl-Sulfatase 29%
  • Sulfatases 27%
  185 Citations (Scopus)

  284 Downloads (Pure)
• 2013

  Novel H6PDH mutations in two girls with premature adrenarche : 'apparent' and 'true' CRD can be differentiated by urinary steroid profiling

  Lavery, G. G., Idkowiak, J., Sherlock, M., Bujalska, I., Ride, J. P., Saqib, K., Hartmann, M. F., Hughes, B., Wudy, S. A., De Schepper, J., Arlt, W., Krone, N., Shackleton, C. H., Walker, E. A. & Stewart, P. M., 1 Feb 2013, In: European Journal of Endocrinology . 168, 2, p. K19-K26

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Cortisone reductase deficiency 100%
  • Adrenarche 77%
  • Steroids 35%
  • Mutation 26%
  • Hyperandrogenism 9%
  34 Citations (Scopus)

  201 Downloads (Pure)

• Prenatal diagnosis of congenital adrenal hyperplasia caused by P450 oxidoreductase deficiency

  Reisch, N., Idkowiak, J., Hughes, B. A., Ivison, H. E., Abdul-Rahman, O. A., Hendon, L. G., Olney, A. H., Nielsen, S., Harrison, R., Blair, E. M., Dhir, V., Krone, N., Shackleton, C. H. L. & Arlt, W., 1 Mar 2013, In: The Journal of clinical endocrinology and metabolism. 98, 3, p. E528-36

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Congenital Adrenal Hyperplasia 100%
  • Prenatal Diagnosis 76%
  • Steroid 69%
  • Oxidoreductases 69%
  • Estriol 51%
  25 Citations (Scopus)

  514 Downloads (Pure)
• 2011

  A Missense Mutation in the Human Cytochrome b5 Gene causes 46,XY Disorder of Sex Development due to True Isolated 17,20 Lyase Deficiency.

  Idkowiak, J., Randell, T., Dhir, V., Patel, P., Shackleton, C., Taylor, NF., Krone, N. & Arlt, W., 1 Mar 2011, In: Journal of Clinical Endocrinology and Metabolism. 94, p. 465-475 11 p.

  Research output: Contribution to journal › Article › peer-review

  • Isolated 17,20-Lyase Deficiency 100%
  • 46,XY Disorders of Sex Development 73%
  • Cytochromes b5 69%
  • Cytochrome B5 65%
  • Missense Mutation 49%
  62 Citations (Scopus)

• Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency.

  Krone, N., Idkowiak, J., Dhir, V., Hughes, B., Rose, I., O'Neil, D., Smith, M., MacDonald, F., Cole, T., Gregory, J., Shackleton, C. & Arlt, W., 7 Dec 2011, In: Journal of Clinical Endocrinology and Metabolism. 97, 2, p. E257-E267 11 p.

  Research output: Contribution to journal › Article

  • Congenital Adrenal Hyperplasia 100%
  • Oxidoreductases 69%
  • Mutation 63%
  • Cosyntropin 58%
  • Genotype 54%
  81 Citations (Scopus)

• Premature adrenarche: novel lessons from early onset androgen excess

  Idkowiak, J., Lavery, G., Dhir, V., Barrett, T., Stewart, P., Krone, N. & Arlt, W., 1 Aug 2011, In: European Journal of Endocrinology. 165, 2, p. 189-207 19 p.

  Research output: Contribution to journal › Review article › peer-review

  • Adrenarche 100%
  • Androgens 56%
  • Zona Reticularis 38%
  • Polycystic Ovary Syndrome 27%
  • Cortisone reductase deficiency 25%
  87 Citations (Scopus)