Complete Androgen Insensitivity Syndrome in a Young Girl with Primary Amenorrhea and Suspected Delayed Puberty: A Case-Based Review of Clinical Management, Surgical Follow-Up, and Oncological Risk

Complete Androgen Insensitivity Syndrome in a Young Girl with Primary Amenorrhea and Suspected Delayed Puberty: A Case-Based Review of Clinical Management, Surgical Follow-Up, and Oncological Risk

<i>Background:</i> 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 (<i>AR</i>) gene. <...

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Bibliographic Details
Main Authors: Barbara Fraccascia, Giorgio Sodero, Lucia Celeste Pane, Elena Malavolta, Caterina Gola, Luigi Pane, Valentina Filomena Paradiso, Lorenzo Nanni, Donato Rigante, Clelia Cipolla
Format: Article
Language:English
Published: MDPI AG 2024-10-01
Series:Diseases
Subjects:
complete androgen insensitivity syndrome
sexual development
disorders of sex development
pediatric endocrinology
personalized medicine
Online Access:https://www.mdpi.com/2079-9721/12/10/235
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