Challenges in managing disorders of sex development associated with adrenal dysfunction.

IF 2.7 Q3 ENDOCRINOLOGY & METABOLISM
Gabriela P Finkielstain, Rodolfo A Rey
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引用次数: 0

Abstract

Introduction: Disorders of Sex Development (DSD) associated with adrenal dysfunction occur due to different defects in the proteins involved in gonadal and adrenal steroidogenesis.

Areas covered: The deficiencies in 21-hydroxylase and 11β-hydroxylase lead to DSD in 46,XX patients, defects in StAR, P450scc, 17α-hydroxylase and 17,20-lyase lead to 46,XY DSD, and 3β-HSD2 and POR deficiencies cause both 46,XX and 46,XY DSD. Challenges in diagnosis arise from the low prevalence and the variability in serum steroid profiles. Replacement therapy with hydrocortisone and fludrocortisone helps to minimize life-threatening adrenal crises; however, availability is still an unresolved problem in many countries. Adverse health outcomes, due to the disease or its treatment, are common and include adult short stature, hypertension, osteoporosis, obesity, cardiometabolic risk, and reproductive health issues. Potential biomarkers to improve monitoring and novel treatment options that have been developed with the primary aim to decrease adrenal androgen production are promising tools to help improve the health and quality of life of these patients.

Expert opinion: Steroid profiling by mass spectrometry and next-generation sequencing technologies represent useful tools for establishing an etiologic diagnosis and drive personalized management. Nonetheless, access to health care still remains an issue requiring urgent solutions in many resource-limited settings.

管理与肾上腺功能障碍相关的性发育障碍的挑战。
引言:与肾上腺功能障碍相关的性发育障碍(DSD)是由于性腺和肾上腺类固醇生成相关蛋白质的不同缺陷而发生的。涵盖的领域:21羟化酶和11β-羟化酶的缺陷导致46,XX患者的DSD,StAR、P450scc、17α-羟化酶和17,20-裂合酶的缺陷导致了46,XY DSD,3β-HSD2和POR的缺陷同时引起46,XX和46,XY-DSD。诊断方面的挑战来自于血清类固醇谱的低患病率和变异性。氢化可的松和氟氢化可的松的替代治疗有助于最大限度地减少危及生命的肾上腺危象;然而,在许多国家,可用性仍然是一个尚未解决的问题。由于该疾病或其治疗,不良健康后果很常见,包括成人身材矮小、高血压、骨质疏松、肥胖、心脏代谢风险和生殖健康问题。改善监测的潜在生物标志物和以减少肾上腺雄激素产生为主要目标的新治疗方案是有希望帮助改善这些患者健康和生活质量的工具。专家意见:通过质谱和下一代测序技术进行类固醇分析是建立病因诊断和推动个性化管理的有用工具。尽管如此,在许多资源有限的环境中,获得医疗保健仍然是一个需要紧急解决的问题。
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来源期刊
Expert Review of Endocrinology & Metabolism
Expert Review of Endocrinology & Metabolism ENDOCRINOLOGY & METABOLISM-
CiteScore
4.80
自引率
0.00%
发文量
44
期刊介绍: Implicated in a plethora of regulatory dysfunctions involving growth and development, metabolism, electrolyte balances and reproduction, endocrine disruption is one of the highest priority research topics in the world. As a result, we are now in a position to better detect, characterize and overcome the damage mediated by adverse interaction with the endocrine system. Expert Review of Endocrinology and Metabolism (ISSN 1744-6651), provides extensive coverage of state-of-the-art research and clinical advancements in the field of endocrine control and metabolism, with a focus on screening, prevention, diagnostics, existing and novel therapeutics, as well as related molecular genetics, pathophysiology and epidemiology.
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