Familial complete androgen insensitivity syndrome (CAIS): a case series of three siblings with emphasis on diagnosis, management, and psychosocial outcomes.

IF 3 3区医学 Q2 ENDOCRINOLOGY & METABOLISM

Endocrine Pub Date : 2025-05-13 DOI:10.1007/s12020-025-04264-1

Vaishnavi Rajaraman, Usha Vishwanath, Lawrence D Cruze

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引用次数: 0

Abstract

Objective: To highlight the clinical presentation, diagnostic challenges, and management of Complete Androgen Insensitivity Syndrome (CAIS) through a case series of three sisters, emphasizing the importance of early recognition and multidisciplinary care.

Methods: Three phenotypically female siblings with primary amenorrhea underwent hormonal evaluation, imaging, and genetic testing. Hormonal studies revealed elevated serum testosterone levels, while imaging confirmed the absence of a uterus and ovaries. Karyotyping identified a 46, XY genotype with the presence of the SRY gene, confirming CAIS.

Results: All three sisters exhibited normal female secondary sexual characteristics despite a 46, XY karyotype. The absence of Müllerian structures on imaging and elevated testosterone levels guided the diagnosis. Multidisciplinary management, including hormonal therapy, psychological support, and surgical planning, was discussed.

Conclusion: CAIS should be considered in individuals with primary amenorrhea and normal female phenotype. Early diagnosis is crucial for appropriate management, including psychological counseling, gonadectomy when indicated, and hormonal therapy to optimize long-term health and quality of life.

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家族性完全雄激素不敏感综合征（CAIS）：三个兄弟姐妹的病例系列，重点是诊断、管理和社会心理结果。

目的：通过对三姐妹的病例系列分析，总结完全性雄激素不敏感综合征（CAIS）的临床表现、诊断挑战和治疗，强调早期识别和多学科治疗的重要性。方法：对3例原发性闭经的女性同胞进行激素评估、影像学检查和基因检测。激素研究显示血清睾酮水平升高，而成像证实没有子宫和卵巢。核型鉴定为46，xy基因型，存在SRY基因，证实了CAIS。结果：三姐妹均表现出正常的女性第二性征，尽管核型为46，xy。影像学上未见勒氏结构和睾酮水平升高指导诊断。讨论了多学科治疗，包括激素治疗、心理支持和手术计划。结论：原发性闭经和正常女性表型患者应考虑CAIS。早期诊断对于适当的治疗至关重要，包括心理咨询、性腺切除术和激素治疗，以优化长期健康和生活质量。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Endocrine ENDOCRINOLOGY & METABOLISM-

CiteScore

6.50

自引率

5.40%

发文量

295

审稿时长

1.5 months

期刊介绍： Well-established as a major journal in today’s rapidly advancing experimental and clinical research areas, Endocrine publishes original articles devoted to basic (including molecular, cellular and physiological studies), translational and clinical research in all the different fields of endocrinology and metabolism. Articles will be accepted based on peer-reviews, priority, and editorial decision. Invited reviews, mini-reviews and viewpoints on relevant pathophysiological and clinical topics, as well as Editorials on articles appearing in the Journal, are published. Unsolicited Editorials will be evaluated by the editorial team. Outcomes of scientific meetings, as well as guidelines and position statements, may be submitted. The Journal also considers special feature articles in the field of endocrine genetics and epigenetics, as well as articles devoted to novel methods and techniques in endocrinology. Endocrine covers controversial, clinical endocrine issues. Meta-analyses on endocrine and metabolic topics are also accepted. Descriptions of single clinical cases and/or small patients studies are not published unless of exceptional interest. However, reports of novel imaging studies and endocrine side effects in single patients may be considered. Research letters and letters to the editor related or unrelated to recently published articles can be submitted. Endocrine covers leading topics in endocrinology such as neuroendocrinology, pituitary and hypothalamic peptides, thyroid physiological and clinical aspects, bone and mineral metabolism and osteoporosis, obesity, lipid and energy metabolism and food intake control, insulin, Type 1 and Type 2 diabetes, hormones of male and female reproduction, adrenal diseases pediatric and geriatric endocrinology, endocrine hypertension and endocrine oncology.