POU6F2 mutation in humans with pubertal failure alters GnRH transcript expression

Autor: Hyun-Ju Cho, Fatih Gurbuz, Maria Stamou, Leman Damla Kotan, Stephen Matthew Farmer, Sule Can, Miranda Faith Tompkins, Jamala Mammadova, S. Ayca Altincik, Cumali Gokce, Gonul Catli, Fuat Bugrul, Keenan Bartlett, Ihsan Turan, Ravikumar Balasubramanian, Bilgin Yuksel, Stephanie B. Seminara, Susan Wray, A. Kemal Topaloglu

Publikováno v: Frontiers in Endocrinology, Vol 14 (2023)

Idiopathic hypogonadotropic hypogonadism (IHH) is characterized by the absence of pubertal development and subsequent impaired fertility often due to gonadotropin-releasing hormone (GnRH) deficits. Exome sequencing of two independent cohorts of IHH p

Externí odkaz: https://doaj.org/article/e38ffbcbad50434aa40c4aa74ba99c55

POU6F2mutation identified in humans with pubertal failure shifts isoform formation and alters GnRH transcript expression

Autor: Hyun-Ju Cho, Fatih Gurbuz, Maria Stamou, Leman Damla Kotan, Stephen Matthew Farmer, Sule Can, Miranda Faith Tompkins, Jamala Mammadova, S. Ayca Altincik, Cumali Gokce, Gonul Catli, Fuat Bugrul, Keenan Bartlett, Ihsan Turan, Ravikumar Balasubramanian, Bilgin Yuksel, Stephanie B. Seminara, Susan Wray, A. Kemal Topaloglu

Idiopathic hypogonadotropic hypogonadism (IHH) is characterized by absent pubertal development and infertility, often due to gonadotropin-releasing hormone (GnRH) deficits. Exome sequencing of two independent cohorts of IHH patients identified 12 rar

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::dd283bfa015f95fd665ef8eb2f611a9c
https://doi.org/10.1101/2022.10.12.511883

Steroid hormone profiles and molecular diagnostic tools in pediatric patients with non-CAH primary adrenal insufficiency

Autor: Tuba Seven Menevse, Yasemin Kendir Demirkol, Busra Gurpinar Tosun, Elvan Bayramoglu, Melek Yildiz, Sezer Acar, Seda Erisen Karaca, Zerrin Orbak, Asan Onder, Elif Sobu, Ahmet Anık, Zeynep Atay, Fuat Bugrul, Ayse Derya Bulus, Korcan Demir, Durmus Dogan, Hamdi Cihan Emeksiz, Heves Kirmizibekmez, Nurhan Ozcan Murat, Akan Yaman, Serap Turan, Abdullah Bereket, Tulay Guran

Context There is a significant challenge of attributing specific diagnoses to patients with primary adrenal insufficiency of unknown etiology other than congenital adrenal hyperplasia (non-CAH PAI). Specific diagnoses per se may guide personalized tr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66161d52b4c8c93bac44addb72e3c563
https://hdl.handle.net/20.500.12511/9391

Surgical Practice in Girls with Congenital Adrenal Hyperplasia: An International Registry Study

Autor: Ana Vieites, Liat de Vries, Christa E. Flück, Jennyver-Tabea Schröder, Christoph Krall, Daniel Konrad, Eduardo Corrêa Costa, Jillian Bryce, Niels H Birkebaek, Ruth Krone, Hedi Claahsen van der Grinten, Sabah Alvi, Carlo L. Acerini, Tulay Guran, Violeta Iotova, Rieko Tadokoro Cuccaro, Rita Ortolano, Ieuan A. Hughes, Mario Lima, Doris Hebenstreit, Evelien F. Gevers, Birgit Koehler, Sukran Poyrazoglu, Ayla Güven, Fuat Bugrul, Tatjana Milenkovic, Nils Krone, Alexander Springer, S Faisal Ahmed, Richard J. Ross, Walter Bonfig

Publikováno v: Hebenstreit, Doris; Ahmed, S Faisal; Krone, Nils; Krall, Christoph; Bryce, Jillian; Alvi, Sabah; Ortolano, Rita; Lima, Mario; Birkebaek, Niels; Bonfig, Walter; Claahsen van der Grinten, Hedi; Costa, Eduardo Correa; Poyrazoglu, Sukran; de Vries, Liat; Flück, Christa E.; Guran, Tulay; Bugrul, Fuat; Güven, Ayla; Iotova, Violeta; Koehler, Birgit; ... (2021). Surgical Practice in Girls with Congenital Adrenal Hyperplasia: An International Registry Study. Sexual development, 15(4), pp. 229-235. Karger 10.1159/000517055
Hebenstreit, D, Faisal Ahmed, S, Krone, N, Krall, C, Bryce, J, Alvi, S, Ortolano, R, Lima, M, Birkebaek, N, Bonfig, W, Van Der Grinten, H C, Costa, E C, Poyrazoglu, S, De Vries, L, Flück, C E, Guran, T, Bugrul, F, Güven, A, Iotova, V, Koehler, B, Schröder, J T, Konrad, D, Gevers, E, Krone, R, Milenkovic, T, Vieites, A, Ross, R, Cuccaro, R T, Hughes, I, Acerini, C & Springer, A 2021, ' Surgical Practice in Girls with Congenital Adrenal Hyperplasia : An International Registry Study ', Sexual Development, vol. 15, no. 4, pp. 229-235 . https://doi.org/10.1159/000517055

In this article international trends in surgical practice in girls with congenital adrenal hyperplasia (CAH) are evaluated. All cases that had been classified in the I-CAH/I-DSD registry as 46,XX CAH and who were born prior to 2017 were identified. C

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29da81d06767433f3d055dee1273789c
https://hdl.handle.net/11585/832977

Malnutrition Despite Adequate Nutrient Intake: A Clue For Diencephalic Syndrome

Autor: Halil Haldun Emiroğlu, Hakan Karabağlı, Meltem Gümüş, Mert Şahinoğlu, Fuat Buğrul, Ayşe Kartal, Anna Carina Ergani

Publikováno v: Genel Tıp Dergisi, Vol 32, Iss 5, Pp 621-623 (2022)

Diencephalic syndrome is characterized by excessive weight loss and subcutaneous fatty tissue loss, hyperactivity, euphoria, and hypervigilance observed in early childhood. It usually accompanies space-occupying neoplastic lesions of the hypothalamic

Externí odkaz: https://doaj.org/article/74f9708ca8364aff9f86d09c22fbdf5e