完全雄激素不敏感综合征
医学
雄激素不敏感综合征
原发性闭经
儿科
闭经
雄激素
恶性肿瘤
社会心理的
第二性征
妇科
雄激素受体
内科学
激素
精神科
癌症
前列腺癌
生物
遗传学
怀孕
作者
Barbara Fraccascia,Giorgio Sodero,Lucia Celeste Pane,Elena Malavolta,Caterina Gola,Luigi Pane,Valentina Filomena Paradiso,Lorenzo Nanni,Donato Rigante,Clelia Cipolla
出处
期刊:Diseases
[Multidisciplinary Digital Publishing Institute]
日期:2024-10-01
卷期号:12 (10): 235-235
被引量:5
标识
DOI:10.3390/diseases12100235
摘要
Background: Complete androgen insensitivity syndrome (CAIS) is a rare disorder of sex development characterized by 46,XY karyotype and testes, yet presenting with a complete female phenotype, which is related to mutations in the androgen receptor (AR) gene. Case presentation: We herein present the case of a 14-year-old adolescent with primary amenorrhea and suspected delayed puberty whose diagnostic journey led to the identification of CAIS through the demonstration of a novel AR variant (c.159_207del). Case-based review: Our report encompasses the complexity of CAIS management, focusing on the risk of malignancy, surveillance options, hormone replacement therapy, timing of an eventual gonadectomy, and the psychosocial impact of such a diagnosis. An algorithm has been formulated for the management of CAIS starting in adolescence, highlighting the conservative approach for those patients unwilling to undergo gonadectomy. Conclusions: Primary amenorrhea and delay in puberty development may provide clues, ultimately leading to a diagnosis of CAIS. This review emphasizes the cruciality of a multidisciplinary approach in managing patients with CAIS, needing for an individualized care to optimize the overall outcome.
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