GATA transcription factors in testicular adrenal rest tumours

Autor: Manon Engels, Paul N Span, Rod T Mitchell, Joop J T M Heuvel, Monica A Marijnissen-van Zanten, Antonius E van Herwaarden, Christina A Hulsbergen-van de Kaa, Egbert Oosterwijk, Nike M Stikkelbroeck, Lee B Smith, Fred C G J Sweep, Hedi L Claahsen-van der Grinten

Publikováno v: Endocrine Connections, Vol 6, Iss 8, Pp 866-875 (2017)

Testicular adrenal rest tumours (TARTs) are benign adrenal-like testicular tumours that frequently occur in male patients with congenital adrenal hyperplasia. Recently, GATA transcription factors have been linked to the development of TARTs in mice.

Externí odkaz: https://doaj.org/article/b6e282163dd24426a8c3654b17e697a1

46,XX males with congenital adrenal hyperplasia: a clinical and biochemical description

Autor: Bas P. H. Adriaansen, Agustini Utari, Dineke Westra, Achmad Zulfa Juniarto, Mahayu Dewi Ariani, Annastasia Ediati, Mariska A. M. Schröder, Paul N. Span, Fred C. G. J. Sweep, Stenvert L. S. Drop, Sultana M. H. Faradz, Antonius E. van Herwaarden, Hedi L. Claahsen – van der Grinten

Publikováno v: Frontiers in Endocrinology, Vol 15 (2024)

IntroductionCongenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) or 11-hydroxylase deficiency (11OHD) is characterized by underproduction of cortisol and overproduction of adrenal androgens. These androgens lead to a variable

Externí odkaz: https://doaj.org/article/48f6cb3fd87c455992e4f56a2d178f4c

A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.

Autor: Eleonora Porcu, Marco Medici, Giorgio Pistis, Claudia B Volpato, Scott G Wilson, Anne R Cappola, Steffan D Bos, Joris Deelen, Martin den Heijer, Rachel M Freathy, Jari Lahti, Chunyu Liu, Lorna M Lopez, Ilja M Nolte, Jeffrey R O'Connell, Toshiko Tanaka, Stella Trompet, Alice Arnold, Stefania Bandinelli, Marian Beekman, Stefan Böhringer, Suzanne J Brown, Brendan M Buckley, Clara Camaschella, Anton J M de Craen, Gail Davies, Marieke C H de Visser, Ian Ford, Tom Forsen, Timothy M Frayling, Laura Fugazzola, Martin Gögele, Andrew T Hattersley, Ad R Hermus, Albert Hofman, Jeanine J Houwing-Duistermaat, Richard A Jensen, Eero Kajantie, Margreet Kloppenburg, Ee M Lim, Corrado Masciullo, Stefano Mariotti, Cosetta Minelli, Braxton D Mitchell, Ramaiah Nagaraja, Romana T Netea-Maier, Aarno Palotie, Luca Persani, Maria G Piras, Bruce M Psaty, Katri Räikkönen, J Brent Richards, Fernando Rivadeneira, Cinzia Sala, Mona M Sabra, Naveed Sattar, Beverley M Shields, Nicole Soranzo, John M Starr, David J Stott, Fred C G J Sweep, Gianluca Usala, Melanie M van der Klauw, Diana van Heemst, Alies van Mullem, Sita H Vermeulen, W Edward Visser, John P Walsh, Rudi G J Westendorp, Elisabeth Widen, Guangju Zhai, Francesco Cucca, Ian J Deary, Johan G Eriksson, Luigi Ferrucci, Caroline S Fox, J Wouter Jukema, Lambertus A Kiemeney, Peter P Pramstaller, David Schlessinger, Alan R Shuldiner, Eline P Slagboom, André G Uitterlinden, Bijay Vaidya, Theo J Visser, Bruce H R Wolffenbuttel, Ingrid Meulenbelt, Jerome I Rotter, Tim D Spector, Andrew A Hicks, Daniela Toniolo, Serena Sanna, Robin P Peeters, Silvia Naitza

Publikováno v: PLoS Genetics, Vol 9, Iss 2, p e1003266 (2013)

Thyroid hormone is essential for normal metabolism and development, and overt abnormalities in thyroid function lead to common endocrine disorders affecting approximately 10% of individuals over their life span. In addition, even mild alterations in

Externí odkaz: https://doaj.org/article/e69c66d7aa444da8a3bac096f4be9764

Seasonal variation in vitamin D₃ levels is paralleled by changes in the peripheral blood human T cell compartment.

Autor: Ai-Leng Khoo, Hans J P M Koenen, Louis Y A Chai, Fred C G J Sweep, Mihai G Netea, André J A M van der Ven, Irma Joosten

Publikováno v: PLoS ONE, Vol 7, Iss 1, p e29250 (2012)

It is well-recognized that vitamin D₃ has immune-modulatory properties and that the variation in ultraviolet (UV) exposure affects vitamin D₃ status. Here, we investigated if and to what extent seasonality of vitamin D₃ levels are associated wi

Externí odkaz: https://doaj.org/article/e8040f5a992d4952af9bebd489a6a115

Adult patients with congenital adrenal hyperplasia have elevated blood pressure but otherwise a normal cardiovascular risk profile.

Autor: Christiaan F Mooij, Jeanne Margot Kroese, Fred C G J Sweep, Ad R M M Hermus, Cees J Tack

Publikováno v: PLoS ONE, Vol 6, Iss 9, p e24204 (2011)

OBJECTIVE: Treatment with glucocorticoids and mineralocorticoids has changed congenital adrenal hyperplasia (CAH) from a fatal to a chronic lifelong disease. Long-term treatment, in particular the chronic (over-)treatment with glucocorticoids, may ha

Externí odkaz: https://doaj.org/article/ea6aa0a15fc64d49951f7d4c70f022bf