一名年轻的韩国男性患者因 GNRHR 的新型复合变异导致先天性特发性性腺功能减退症。

IF 2.8 Q3 ENDOCRINOLOGY & METABOLISM Annals of Pediatric Endocrinology & Metabolism Pub Date : 2023-12-01 Epub Date: 2022-06-30 DOI:10.6065/apem.2244070.035
Gimin Lee, Mi Seon Lee, Rosie Lee, Jung Eun Moon
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引用次数: 0

摘要

特发性促性腺功能减退症(IHH)是一种18岁以后没有性成熟或性成熟不完全的疾病。据报道,促性腺激素释放激素受体基因(GNRHR)突变是16% IHH患者的病因。一位18岁的青少年因性腺功能减退被转介到内分泌科。他出生时患有隐睾症,7岁时睾丸小,睾酮水平低。由于他的肾病综合征无法控制,他的性腺功能减退的治疗被推迟了。脑MRI未见异常;骨盆MRI检查发现睾丸萎缩;黄体生成素(LH)、卵泡刺激素(FSH)和睾酮水平均较低。在HCG模拟测试中,睾酮水平没有明显升高,从1.11 ng/dL上升到1.15 ng/dL。该患者携带GNRHR基因中c.514G> a (p.Gly172Arg)和c.113G> a (p.Arg38Gln)的新型复合杂合变体。在这里,我们报告了一例新的GNRHR复合变异c.514G> a (p.Gly172Arg)和c.113G> a (p.Arg38Gln)在韩国青少年促性腺功能减退症。
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A novel compound variant in GNRHR causing congenital idiopathic hypogonadotropic hypogonadism in a young male Korean patient.
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来源期刊
CiteScore
4.00
自引率
18.20%
发文量
59
审稿时长
24 weeks
期刊介绍: The Annals of Pediatric Endocrinology & Metabolism Journal is the official publication of the Korean Society of Pediatric Endocrinology. Its formal abbreviated title is “Ann Pediatr Endocrinol Metab”. It is a peer-reviewed open access journal of medicine published in English. The journal was launched in 1996 under the title of ‘Journal of Korean Society of Pediatric Endocrinology’ until 2011 (pISSN 1226-2242). Since 2012, the title is now changed to ‘Annals of Pediatric Endocrinology & Metabolism’. The Journal is published four times per year on the last day of March, June, September, and December. It is widely distributed for free to members of the Korean Society of Pediatric Endocrinology, medical schools, libraries, and academic institutions. The journal is indexed/tracked/covered by web sites of PubMed Central, PubMed, Emerging Sources Citation Index (ESCI), Scopus, EBSCO, EMBASE, KoreaMed, KoMCI, KCI, Science Central, DOI/CrossRef, Directory of Open Access Journals(DOAJ), and Google Scholar. The aims of Annals of Pediatric Endocrinology & Metabolism are to contribute to the advancements in the fields of pediatric endocrinology & metabolism through the scientific reviews and interchange of all of pediatric endocrinology and metabolism. It aims to reflect the latest clinical, translational, and basic research trends from worldwide valuable achievements. In addition, genome research, epidemiology, public education and clinical practice guidelines in each country are welcomed for publication. The Journal particularly focuses on research conducted with Asian-Pacific children whose genetic and environmental backgrounds are different from those of the Western. Area of specific interest include the following : Growth, puberty, glucose metabolism including diabetes mellitus, obesity, nutrition, disorders of sexual development, pituitary, thyroid, parathyroid, adrenal cortex, bone or other endocrine and metabolic disorders from infancy through adolescence.
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