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Journals / Türk Jinekoloji ve Obstetrik Derneği Dergisi / 2014 / Cilt: 11 - Sayı: 2

Complete androgen insensitivity syndrome in three sisters: A case report

Komplet androjen duyarsızlık sendromlu üç kız kardeş: Olgu sunumu

Özhan ÖZDEMİR
Gizem ÖZCANLI
Evren AKMUT
Cemal Reşat ATALAY
Mustafa Erkan SARI
Pages
139–141
Publication Date
2022-11-05
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

This article presents the case of three sisters diagnosed with Complete Androgen Insensitivity syndrome which was found out during the family history investigation of a female patient having a mass in her inguinal region and a diagnosis of Complete Androgen Insensitivity syndrome.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Complete Androgen Insensitivity syndrome (testicular feminization) is the most common cause of male pseudohermaphroditism.
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Key Findings & Data:The underlying pathology is end organ insensitivity to androgen stimulation.
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Conclusion & Impact:This article presents the case of three sisters diagnosed with Complete Androgen Insensitivity syndrome which was found out during the family history investigation of a female patient having a mass in her inguinal region and a diagnosis of Complete Androgen Insensitivity syndrome.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Complete Androgen Insensitivity syndrome (testicular feminization) is the most common cause of male pseudohermaphroditism. The underlying pathology is end organ insensitivity to androgen stimulation. Androgen Insensitivity syndrome could be considered as a disease that causes resistance to androgens actions, influencing differentiation of the body structures and systems in which this hormone exerts its effects. Transmission of this disorder is by means of an X-linked recessive gene that is responsible for the intracellular androgen receptor. The disorder is often found in several members of the same family. Thus family screening should be performed in the affected individuals. This article presents the case of three sisters diagnosed with Complete Androgen Insensitivity syndrome which was found out during the family history investigation of a female patient having a mass in her inguinal region and a diagnosis of Complete Androgen Insensitivity syndrome.

Özet

Komplet Androjen Duyarsızlık sendromu (testiküler feminizasyon) erkek psödohermafroditizmin en sık nedenini oluşturur. Altta yatan temel patoloji androjen stimülasyonuna karşı end organ duyarsızlığıdır ve bunun sonucunda androjenlerin etki ettiği vücut yapıları ve sistemlerde farklılaşmayı etkileyen bir hastalıktır. Kalıtım şekli hücre içi androjen reseptörlerinden sorumlu olan Xe bağlı resesif bir gen ile ilişkilidir. Hastalık aynı ailenin birkaç ferdinde de görülebilir. Bu nedenle etkilenen bireylerin aile taraması yapılması gerekmektedir. Makalemizde inguinal bölgede kitle nedeni ile araştırılan ve Komplet Androjen Duyarsızlık sendromu tanısı alan hastanın aile öyküsünün araştırılması ile ortaya çıkartılan Komplet Androjen Duyarsızlık sendromlu üç kız kardeş olgusunu sunduk.

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Cite This Article

ÖZDEMİR, Ö., ÖZCANLI, G., AKMUT, E., ATALAY, C. R., SARI, M. E. (2022). Complete androgen insensitivity syndrome in three sisters: A case report. Türk Jinekoloji ve Obstetrik Derneği Dergisi, Cilt: 11 - Sayı: 2, 139–141. https://ajindex.com/articles/631453

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