يعاني بعض الشباب من مرض جيني في حساسيه الجسم لهرمونات الذكوره الطبيعيه

واليكم بعض الحقائق الطبيه بالنسبه لطلبه الطب عن هذا المرض الجيني

 Androgen Insensitivity Syndrome (AIS)

**Definition:**

Androgen insensitivity syndrome (AIS) is a rare genetic disorder that affects how the body responds to **testosterone**, 

a hormone responsible for the development and maintenance of male sex characteristics. In AIS, individuals either lack functional 

**testosterone receptors** or have receptors that are not sensitive to testosterone.

**Key Points:**

- **Genetics**: AIS occurs due to variants (mutations) in the **androgen receptor (AR) gene**.

This gene provides instructions for making the androgen receptor protein, which interacts with testosterone and directs male sexual development.

- **Frequency**: Complete AIS affects approximately **2 to 5 in 100,000 newborns** 

assigned female at birth. Partial AIS is thought to be at least as common as complete AIS, while mild AIS is much less common.

- **Clinical Presentation**:

    - **Complete AIS**: Individuals do not respond to androgens at all. 

They have external sex characteristics typical of females, lack a uterus, and have undescended testes (located in the pelvis or abdomen).

 Infertility is common.

    - **Partial AIS**: Tissues are partially sensitive to androgens. Genitalia can appear typically female, have both male and female characteristics, or look male.

    - **Mild AIS**: Born with male-typical sex characteristics but often infertile. Breast enlargement may occur during puberty.

- **Management**: Currently, there is no method to correct malfunctioning androgen receptor proteins due to AR gene mutations. Management includes sex assignment,

 genitoplasty, hormone replacement therapy, and psychological counseling.

- **Clinical Significance**: AIS is relevant when it occurs in genetic males (with a Y-chromosome).

 Phenotypes range from typical male habitus to full female habitus despite the presence of a Y-chromosome.