TY - JOUR AU - Xue, L. Q. AU - Han, B. AU - Chen, L. B. AU - Pan, C. M. AU - Zhu, H. AU - Liu, B. L. PY - 2013 DA - 2013// TI - Identification of a novel mutation in CYP17A1 gene JO - Transl Res VL - 161 UR - https://doi.org/10.1016/j.trsl.2012.08.007 DO - 10.1016/j.trsl.2012.08.007 ID - Xue2013 ER - TY - JOUR AU - Xu, S. AU - Hu, S. AU - Yu, X. AU - Zhang, M. AU - Yang, Y. PY - 2017 DA - 2017// TI - 17αhydroxylase/17,20lyase deficiency in congenital adrenal hyperplasia: a case report JO - Mol Med Rep VL - 15 UR - https://doi.org/10.3892/mmr.2016.6029 DO - 10.3892/mmr.2016.6029 ID - Xu2017 ER - TY - JOUR AU - Kim, S. M. AU - Rhee, J. H. PY - 2015 DA - 2015// TI - A case of 17α-hydroxylase deficiency JO - Clin Exp Reprod Med VL - 42 UR - https://doi.org/10.5653/cerm.2015.42.2.72 DO - 10.5653/cerm.2015.42.2.72 ID - Kim2015 ER - TY - JOUR AU - Auchus, R. J. PY - 2017 DA - 2017// TI - Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic JO - J Steroid Biochem Mol Biol VL - 165 UR - https://doi.org/10.1016/j.jsbmb.2016.02.002 DO - 10.1016/j.jsbmb.2016.02.002 ID - Auchus2017 ER - TY - JOUR AU - Guzzetti, C. AU - Bizzarri, C. AU - Pisaneschi, E. AU - Mucciolo, M. AU - Bellacchio, E. AU - Ibba, A. PY - 2018 DA - 2018// TI - Next-generation sequencing identifies different genetic defects in 2 patients with primary adrenal insufficiency and gonadotropin-independent precocious puberty JO - Horm Res Paediatr VL - 90 UR - https://doi.org/10.1159/000492496 DO - 10.1159/000492496 ID - Guzzetti2018 ER - TY - JOUR AU - Miura, K. AU - Yasuda, K. AU - Yanase, T. AU - Yamakita, N. AU - Sasano, H. AU - Nawata, H. PY - 1996 DA - 1996// TI - Mutation of cytochrome P-45017 alpha gene (CYP17) in a Japanese patient previously reported as having glucocorticoid-responsive hyperaldosteronism: with a review of Japanese patients with mutations of CYP17 JO - J Clin Endocrinol Metab VL - 81 ID - Miura1996 ER - TY - JOUR AU - Hinz, L. AU - Pacaud, D. AU - Kline, G. PY - 2018 DA - 2018// TI - Congenital adrenal hyperplasia causing hypertension: an illustrative review JO - J Hum Hypertens VL - 32 UR - https://doi.org/10.1038/s41371-017-0002-5 DO - 10.1038/s41371-017-0002-5 ID - Hinz2018 ER - TY - JOUR AU - Kastumata, N. AU - Fujiwara, I. AU - Ogawa, H. AU - Fujiwara, K. PY - 2011 DA - 2011// TI - Adrenal glands: genetic analysis of 17α hydroxylase deficiency that does not present the high blood pressure [in Japanese] JO - Clin Endocrinol VL - 59 ID - Kastumata2011 ER - TY - JOUR AU - Lin, D. AU - Harikrishna, J. A. AU - Moore, C. C. AU - Jones, K. L. AU - Miller, W. L. PY - 1991 DA - 1991// TI - Missense mutation serine106—proline causes 17 alpha-hydroxylase deficiency JO - J Biol Chem VL - 266 ID - Lin1991 ER - TY - JOUR AU - Monno, S. AU - Takasu, N. PY - 1989 DA - 1989// TI - A new variant of 17 alpha-hydroxylase deficiency with hyperaldosteronism in two Japanese sisters [in Japanese] JO - Endocrinol Jpn VL - 36 UR - https://doi.org/10.1507/endocrj1954.36.315 DO - 10.1507/endocrj1954.36.315 ID - Monno1989 ER - TY - JOUR AU - Mula-Abed, W. A. AU - Pambinezhuth, F. B. AU - Al-Kindi, M. K. AU - Al-Busaidi, N. B. AU - Al-Muslahi, H. N. AU - Al-Lamki, M. A. PY - 2014 DA - 2014// TI - Congenital adrenal hyperplasia due to 17-alpha-hydoxylase/17,20-lyase deficiency presenting with hypertension and pseudohermaphroditism: First Case Report from Oman JO - Oman Med J VL - 29 UR - https://doi.org/10.5001/omj.2014.12 DO - 10.5001/omj.2014.12 ID - Mula-Abed2014 ER - TY - JOUR AU - Ueda, Y. AU - Watanabe, T. AU - Usui, K. AU - Kakita, M. AU - Nakatani, R. AU - Nakao, K. PY - 2014 DA - 2014// TI - The genetic endocrinological analysis of untreated adult 17α hydroxylase deficiency patient [in Japanese] JO - Folia Endocrinol Jpn VL - 90 ID - Ueda2014 ER - TY - JOUR AU - Wunsch, L. AU - Holterhus, P. M. AU - Wessel, L. AU - Hiort, O. PY - 2012 DA - 2012// TI - Patients with disorders of sex development (DSD) at risk of gonadal tumour development: management based on laparoscopic biopsy and molecular diagnosis JO - BJU Int VL - 110 UR - https://doi.org/10.1111/j.1464-410X.2012.11181.x DO - 10.1111/j.1464-410X.2012.11181.x ID - Wunsch2012 ER - TY - JOUR AU - Mouriquand, P. D. AU - Gorduza, D. B. AU - Gay, C. L. AU - Meyer-Bahlburg, H. F. AU - Baker, L. AU - Baskin, L. S. PY - 2016 DA - 2016// TI - Surgery in disorders of sex development (DSD) with a gender issue: if (why), when, and how? JO - J Pediatr Urol VL - 12 UR - https://doi.org/10.1016/j.jpurol.2016.04.001 DO - 10.1016/j.jpurol.2016.04.001 ID - Mouriquand2016 ER - TY - JOUR AU - Audi, L. AU - Ahmed, S. F. AU - Krone, N. AU - Cools, M. AU - McElreavey, K. AU - Holterhus, P. M. PY - 2018 DA - 2018// TI - Genetics in endocrinology: approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 'DSDnet' JO - Eur J Endocrinol VL - 179 UR - https://doi.org/10.1530/EJE-18-0256 DO - 10.1530/EJE-18-0256 ID - Audi2018 ER -