Psychological Aspects of Androgen Insensitivity Syndrome: Two Cases Illustrating Therapeutical Challenges

Pritsini, Filippa; Kanakis, George; Kyrgios, Ioannis; Kotanidou, Eleni P; Litou, Eleni; Mouzaki, Konstantina; Kleisarchaki, Aggeliki; Goulis, Dimitrios G.; Galli-Tsinopoulou, Assimina

doi:10.1155/2017/8313162

Cited by 2 publications

(3 citation statements)

References 18 publications

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“…Patients with CAIS should be raised as females, because of external genitalia development and androgen unresponsiveness of the brain. These patients require psychological advice after the diagnosis is established and regarding the necessity of orchiectomy and acceptance of infertility [ 64 ].…”

Section: Discussionmentioning

confidence: 99%

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The challenges of androgen insensitivity syndrome

et al. 2021

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Androgen insensitivity syndrome (AIS) is an X-linked recessive genetic syndrome that occurs as result of an androgen receptor mutation; it affects the normal masculinization process in chromosomal male patients. More than 900 androgen receptor mutations that can lead to AIS have been identified. The complete androgen insensitivity is characterized by a total lack of response to androgens, usually in patients with 46XY karyotype but with feminine phenotype. Primary amenorrhoea and inguinal swellings in female patients are the main signs that could raise suspicion for this syndrome. Patients with partial androgen insensitivity have ambiguous genitalia at birth and gynecomastia during puberty, whereas those with mild androgen insensitivity present a normal male phenotype but altered spermatogenesis during adulthood and pubertal gynecomastia. The diagnosis of AIS often proves to be a challenge; its management is complex and requires a multidisciplinary approach to meet decision-making challenges in sex assignment, fertility and timing of gonadectomy, psychological outcomes and genetic counselling.

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Section: Discussionmentioning

confidence: 99%

“…They experience more often psychological distress, 25% of them suffering from a sexual identity crisis. Psychological support is needed, and a decision of assigned gender is made by the family and medical team [ 64 , 65 ].…”

Section: Discussionmentioning

confidence: 99%

The challenges of androgen insensitivity syndrome

et al. 2021

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“…Finally, the psychological aspect of patients with CAIS should not be undervalued. Psychological support is an essential component of the correct management of these patients [26].…”

Section: Proposal For the Clinical Management Of Patients With Caismentioning

confidence: 99%

Complete Androgen Insensitivity Syndrome: From the Relevance of an Accurate Genetic Diagnosis to the Challenge of Clinical Management. A Case Report

Barbagallo

Cannarella

Bertelli³

et al. 2021

Medicina

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Introduction: Androgen insensitivity syndrome (AIS), an X-linked recessive disorder of sex development (DSD), is caused by variants of the androgen receptor (AR) gene, mapping in the long arm of the X chromosome, which cause a complete loss of function of the receptor. Case presentation: We report a patient diagnosed with complete AIS (CAIS) at birth due to swelling in the bilateral inguinal region. Transabdominal ultrasound revealed the absence of the uterus and ovaries and the presence of bilateral testes in the inguinal region. The karyotype was 46,XY. She underwent bilateral orchiectomy at 9 months and was given estrogen substitutive therapy at the age of 11 years. Genetic analysis of the AR gene variants was requested when, at the age of 20, the patient came to our observation. Methods: The genetic testing was performed by next-generation sequence (NGS) analysis. Results: The genetic analysis showed the presence of the c.2242T>A, p.(Phe748Ile) variant in the AR gene. To the best of our knowledge, this variant has not been published so far. Furthermore, the patient has a heterozygous c.317A>G, p.(Gln106Arg) variation of the gonadotropin-releasing hormone receptor (GNRHR) gene, a heterozygous c.2273G>A, p.Arg758His variation of the chromodomain helicase DNA binding protein 7 (CHD7) gene, and compound heterozygous c.875A>G, p.Tyr292Cys, and c.8023A>G, p.Ile2675Val variations of the Dynein Axonemal Heavy Chain 11 (DNAH11) gene. Conclusions: The case herein reported underlines the importance of an accurate genetic analysis that has to include karyotype and AR gene variant analysis. This is useful to confirm a clinical diagnosis and establish the proper management of patients with CAIS. Numerous variants of the AR gene have not yet been identified. Moreover, several pitfalls are still present in the management of these patients. More studies are needed to answer unresolved questions, and common protocols are required for the clinical follow-up of patients with CAIS.

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Psychological Aspects of Androgen Insensitivity Syndrome: Two Cases Illustrating Therapeutical Challenges

Cited by 2 publications

References 18 publications

The challenges of androgen insensitivity syndrome

The challenges of androgen insensitivity syndrome

Complete Androgen Insensitivity Syndrome: From the Relevance of an Accurate Genetic Diagnosis to the Challenge of Clinical Management. A Case Report

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