先天性肾上腺增生伴精神障碍1例

R. Grujicic, J. Maslak, Saša Štupar, M. Pejović-Milovančević
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引用次数: 0

摘要

简介:先天性肾上腺增生症(CAH)是一种遗传性常染色体隐性遗传病,其特征是肾上腺皮质合成类固醇激素的缺陷。这一缺陷导致血清雄激素水平升高。雄激素已被证明对产前和产后发育中的大脑有显著影响,这可能导致神经认知功能受损,并有助于精神疾病的发展。目的:在这篇论文中,我们将介绍一位在青春期发展出严重精神问题的CAH患者。本病例报告的目的是讨论这两种情况之间可能的联系,并考虑可能的诊断和治疗干预措施。病例报告:患者在出生时被诊断为典型的CAH。经过几个月的皮质类固醇替代治疗后,患者在7个月大时接受阴道成形术和阴蒂成形术的手术治疗。患者在青少年早期出现严重的抑郁-焦虑精神问题,随后出现冲动控制和攻击性受损。本报告说明了在精神卫生研究所的儿童和青少年临床部进行的诊断和治疗干预。结论:鉴于大量证据表明CAH对认知能力和心理社会功能的影响,有必要对这些患者制定和实施互补的多学科诊断和治疗干预措施。这些干预措施旨在预防精神合并症的发生,从而改善这些患者的生活质量和功能。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Congenital adrenal hyperplasia associated with mental disorders: A case report
Introduction: Congenital adrenal hyperplasia (CAH) is an inherited autosomal recessive disorder characterized by a defect in the synthesis of steroid hormones of the adrenal cortex. This defect results in elevated serum androgen levels. Androgens have been shown to have a significant effect on the developing brain during prenatal and postnatal period, which can lead to impaired neurocognitive functioning and contribute to the development of psychiatric disorders. The aim: In this paper, we will present a patient with CAH who developed serious psychiatric problems during adolescence. The aim of this case report is to discuss a possible connection between these two conditions and to consider possible diagnostic and therapeutic interventions. Case report: The patient was diagnosed with the classic form of CAH at birth. After months of corticosteroid substitution therapy, the patient was surgically treated at 7 months of age with vaginoplasty and clitoroplasty. The patient developed serious psychiatric problems from the depressive-anxiety spectrum in the early adolescent period, followed by impaired impulse control and aggression. This report illustrates the diagnostic and therapeutic interventions conducted at the Clinical Department for Children and Adolescents of the Institute of Mental Health. Conclusion: Given the abundant evidence on the impact of CAH on cognitive ability and psychosocial functioning, it is necessary to develop and implement complementary multidisciplinary diagnostic and therapeutic interventions in these patients. Such interventions would aim to prevent the onset of psychiatric comorbidities and consequently improve the quality of life and functionality of these patients.
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