Zobrazeno 1 - 10
of 121
pro vyhledávání: '"Lise Aksglaede"'
Autor:
Sofia B. Winge, Niels E. Skakkebaek, Lise Aksglaede, Gülizar Saritaş, Ewa Rajpert-De Meyts, Ellen Goossens, Anders Juul, Kristian Almstrup
Publikováno v:
Cell Death and Disease, Vol 15, Iss 6, Pp 1-9 (2024)
Abstract Klinefelter syndrome (47,XXY) causes infertility with a testicular histology comprising two types of Sertoli cell-only tubules, representing mature and immature-like Sertoli cells, and occasionally focal spermatogenesis. Here, we show that t
Externí odkaz:
https://doaj.org/article/213b1e601e994cd09253e3f58a93d4b8
Autor:
Trine Holm Johannsen, Jakob Albrethsen, Vassos Neocleous, Federico Baronio, Martine Cools, Lise Aksglaede, Niels Jørgensen, Peter Christiansen, Meropi Toumba, Pavlos Fanis, Marie Lindhardt Ljubicic, Anders Juul
Publikováno v:
Endocrine Connections, Vol 12, Iss 8, Pp 1-10 (2023)
Congenital adrenal hyperplasia (CAH) is a recessive condition t hat affects the adrenal glands. Despite life-long replacement therapy with glucocorticoids and mineralocorticoids, adult patients with CAH often experience impaired gonadal function. In
Externí odkaz:
https://doaj.org/article/94afbdaa96a6497a8931b4288a0245a4
Autor:
Hans Valdemar López Krabbe, Jørgen Holm Petersen, Louise Laub Asserhøj, Trine Holm Johannsen, Peter Christiansen, Rikke Beck Jensen, Line Hartvig Cleemann, Casper P Hagen, Lærke Priskorn, Niels Jørgensen, Katharina M Main, Anders Juul, Lise Aksglaede
Publikováno v:
Endocrine Connections, Vol 12, Iss 7, Pp 1-17 (2023)
Adult patients with Klinefelter syndrome (KS) are characterized by a highly variable phenotype, including tall stature, obesity, and hypergonadotropic hypogonadism, as well as an increased risk of developing insulin resistance, metabolic syndrome, an
Externí odkaz:
https://doaj.org/article/96b4c96a82e74d219dd2e47fd7c9c635
Publikováno v:
Endocrine Connections, Vol 12, Iss 5, Pp 1-9 (2023)
Objective: Klinefelter syndrome (KS) is the most common sex chromosome disorder and genetic cause of infertility in males. A highly variable phenotype contributes to the fact that a large proportion of cases are never diagnosed. Typical hallmarks in
Externí odkaz:
https://doaj.org/article/72a66ab0d9bb4788915c50a0a3791f10
Autor:
Christoffer Højrup Renault, Lise Aksglaede, Ditte Wøjdemann, Anna Berg Hansen, Rikke Beck Jensen, Anders Juul
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism, Vol 25, Iss 2, Pp 84-91 (2020)
Activation of the hypothalamic-pituitary-gonadal (HPG) axis happens in 3 phases during life. The first phase is during fetal life and is only separated from the second phase, called minipuberty, by the high concentration of placental hormones at birt
Externí odkaz:
https://doaj.org/article/14fa98794c694be9beae18186bb23091
Autor:
Marie Lindhardt Ljubicic, Anne Jørgensen, Lise Aksglaede, John Erik Nielsen, Jakob Albrethsen, Anders Juul, Trine Holm Johannsen
Publikováno v:
Frontiers in Endocrinology, Vol 12 (2021)
ObjectiveInsulin-like factor 3 (INSL3) is produced in the testes and has been proposed as a circulating biomarker of Leydig cell capacity, but remains undescribed in 45,X/46,XY mosaicism. The aim was to examine serum concentrations and gonadal expres
Externí odkaz:
https://doaj.org/article/0daecaa793364c4391af35a74bc5d604
Publikováno v:
Journal of Psychosexual Health, Vol 3 (2021)
The care of transgender individuals is multidisciplinary including medical, surgical, psychiatric, and psychological health professionals. We here report 2 cases of nonclassic congenital adrenal hyperplasia (CAH) coincidently discovered during the cl
Externí odkaz:
https://doaj.org/article/6d37e1b4555b4348abf380358d451acb
Autor:
Annette Mouritsen, Alexander Siegfried Busch, Lise Aksglaede, Ewa Rajpert-De Meyts, Anders Juul
Publikováno v:
Endocrine Connections, Vol 7, Iss 3, Pp 1-7 (2018)
Objective: Only a few genetic loci are known to be associated with male pubertal events. The ability of excreting testosterone (T) and other steroids in the urine depends on sulfation and glucuronidation. One of several essential glucuronidases is en
Externí odkaz:
https://doaj.org/article/ea14f088d82c498488954e36b15cc6b3
Autor:
Iben Katinka Greiber, Casper P Hagen, Alexander Siegfried Busch, Mikkel Grunnet Mieritz, Lise Aksglæde, Katharina Main, Kristian Almstrup, Anders Juul
Publikováno v:
Endocrine Connections, Vol 7, Iss 7, Pp 347-354 (2018)
Objective: Fetal anti-Müllerian hormone (AMH) is responsible for normal male sexual differentiation, and circulating AMH is used as a marker of testicular tissue in newborns with disorders of sex development. Little is known about the mechanism of a
Externí odkaz:
https://doaj.org/article/d31930d0b73048cd9f4f88ddbb751440
Autor:
Katrina Tatton-Brown, Anna Zachariou, Chey Loveday, Anthony Renwick, Shazia Mahamdallie, Lise Aksglaede, Diana Baralle, Daniela Barge-Schaapveld, Moira Blyth, Mieke Bouma, Jeroen Breckpot, Beau Crabb, Tabib Dabir, Valerie Cormier-Daire, Christine Fauth, Richard Fisher, Blanca Gener, David Goudie, Tessa Homfray, Matthew Hunter, Agnete Jorgensen, Sarina G. Kant, Cathy Kirally-Borri, David Koolen, Ajith Kumar, Anatalia Labilloy, Melissa Lees, Carlo Marcelis, Catherine Mercer, Cyril Mignot, Kathryn Miller, Katherine Neas, Ruth Newbury-Ecob, Daniela T. Pilz, Renata Posmyk, Carlos Prada, Keri Ramsey, Linda M. Randolph, Angelo Selicorni, Deborah Shears, Mohnish Suri, I. Karen Temple, Peter Turnpenny, Lionel Val Maldergem, Vinod Varghese, Hermine E. Veenstra-Knol, Naomi Yachelevich, Laura Yates, Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Research Study, Deciphering Developmental Disorders (DDD) Study, Nazneen Rahman
Publikováno v:
Wellcome Open Research, Vol 3 (2018)
Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as the DNMT3A-overgrowth syndrome, is an overgrowth intellectual disability syndrome first described in 2014 with a report of 13 individuals with constitutive heterozygous DNMT3A variants.
Externí odkaz:
https://doaj.org/article/c02e7b8508cf4bac9ec09604f83723ec