Pritsini Filippa, Kanakis Georgios A, Kyrgios Ioannis, Kotanidou Eleni P, Litou Eleni, Mouzaki Konstantina, Kleisarchaki Aggeliki, Goulis Dimitrios G, Galli-Tsinopoulou Assimina
Unit of Pediatric Endocrinology, 4th Department of Pediatrics, Medical School, Faculty of Health Sciences, Aristotle University of Thessaloniki, Thessaloniki, Greece; Unit of Reproductive Endocrinology, 1st Department of Obstetrics and Gynecology, Medical School, Faculty of Health Sciences, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Unit of Pediatric Endocrinology, 4th Department of Pediatrics, Medical School, Faculty of Health Sciences, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Case Rep Endocrinol. 2017;2017:8313162. doi: 10.1155/2017/8313162. Epub 2017 Mar 12.
Androgen Insensitivity Syndrome (AIS) and its heterogeneous phenotypes comprise the pieces of a challenging clinical problem. The lack of standardized guidelines results in controversies regarding the proper diagnostic and therapeutic approach, including the time and type of intervention. Due to its variable phenotype, AIS is not diagnosed at the proper age that would allow optimal psychological and medical support to the patient. Therapeutic approaches are not established, mainly due to the rarity of the disease. In addition, various social and ethical consequences may emerge. The aim of this double case report is to outline the difficulties that may rise during diagnostic, therapeutic, and psychological approach of AIS, especially concerning the handling of the relatives' reaction.
雄激素不敏感综合征（AIS）及其异质性表型构成了一个具有挑战性的临床问题。缺乏标准化指南导致在适当的诊断和治疗方法上存在争议，包括干预的时间和类型。由于其表型多变，AIS未在能为患者提供最佳心理和医疗支持的适当年龄被诊断出来。治疗方法尚未确立，主要是因为该疾病罕见。此外，可能会出现各种社会和伦理后果。本双病例报告的目的是概述在AIS的诊断、治疗和心理治疗过程中可能出现的困难，特别是关于处理亲属反应方面的困难。
