논문
A novel compound variant in GNRHR causing congenital idiopathic hypogonadotropic hypogonadism in a young male Korean patient
pp. 20-22|DOI 10.6065/apem.2244070.035
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참고문헌
주제분류소아과학
참고문헌 (6)
- Jacques Y, "Clinical management of congenital hypogonadotropic hypogonadism", Endocr Rev, 40, pp.669~710 (2019)
- Beranova M, "Prevalence, phenotypic spectrum, and modes of inheritance of gonadotropinreleasing hormone receptor mutations in idiopathic hypogonadotropic hypogonadism", J Clin Endocrinol Metab, 86, pp.1580~1588 (2001)
- Layman LC, "Familial gonadotropin-releasing hormone resistance and hypogonadotropic hypogonadism in a family with multiple affected individuals", Fertil Steril, 75, pp.1148~1155 (2001)
- Silveira LF, "Novel homozygous splice acceptor site GnRH receptor(GnRHR)mutation : human GnRHR"knockout", J Clin Endocrinol Metab, 87, pp.2973~2977 (2002)
- Makretskaya NA, "Clinical and molecular genetic features of cases of isolated hypogonadotropic hypogonadism, associated with defects in GNRHR genes", Problemy Endokrinologii, 67, pp.62~67 (2021)
- Hatipoğlu N, "Micropenis : etiology, diagnosis and treatment approaches", J Clinical Res Pediatr Endocrinol, 5, pp.217~223 (2013)
관련 논문AI추천
Clinical, endocrinological, and molecular characterization of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: a single center experience김재현, 유한욱, 최진호, Gu Hwan Kim, Ja Hyang Cho, Ja Hye Kim, Sun-Jeong Shin, Yeonah Sul대한소아내분비학회 · Annals of Pediatric Endocrinology & Metabolism2015 · 제20권 제1호Male hypogonadism caused by a homozygous missense mutation of the LHB geneJie Chen, Wen-ting Wang, Wen-ting Yi, Xiong Wang, Yuan-Qing Cui대한내과학회 · The Korean Journal of Internal Medicine2021 · 제36권 제6호Hypogonadotrophic hypogonadism due to a mutation in the luteinizing hormone β-subunit gene김철식, 이성진, Chang Min Lee, Gun Ha Park, Hyo-Jeong Hwang, Jae Won Song, Sung-Hee Ihm대한내과학회 · The Korean Journal of Internal Medicine2018 · 제33권 제3호특발 저생식샘자극호르몬생식샘저하증의 유전학적인 특징신영림대한소아내분비학회 · Annals of Pediatric Endocrinology & Metabolism2010 · 제15권 제3호Comment on “Hypogonadotrophic hypogonadism due to a mutation in the luteinizing hormone β-subunit gene”Adrian F. Daly, Albert Beckers, Hernan Valdes-Socin대한내과학회 · The Korean Journal of Internal Medicine2017 · 제32권 제3호The first case of novel variants of the FSHR mutation causing primary amenorrhea in 2 siblings in Korea전종근, Keum Changwon, Yoon Ju Young, Yoo Sukdong대한소아내분비학회 · Annals of Pediatric Endocrinology & Metabolism2023 · 제28권 제1호
