Understanding Androgen Insensitivity Syndrome with or without Breast Cancer
Androgen insensitivity syndrome (AIS) is a genetic disorder that affects sexual development before birth and during puberty. It is a condition in which the body is unable to respond to androgens, male sex hormones. AIS can be complete or partial, depending on the degree of androgen insensitivity.
Complete AIS occurs when the body cannot respond to androgens at all. This means that individuals with complete AIS have female genitalia and do not develop male secondary sex characteristics, such as facial hair and a deep voice. Partial AIS, on the other hand, occurs when the body can partially respond to androgens, resulting in a range of physical characteristics, including ambiguous genitalia, breast development, and sparse facial hair.
AIS can also be associated with an increased risk of breast cancer. Women with complete AIS have a higher risk of developing breast cancer than women without the condition. The risk of breast cancer in women with partial AIS is not well understood.
Symptoms of AIS
The symptoms of AIS vary depending on whether an individual has complete or partial AIS. In complete AIS, individuals typically have:
- Female genitalia
- Absence of menstruation
- Absence of pubic and underarm hair
- Short stature
In partial AIS, individuals may have:
- Ambiguous genitalia
- Breast development
- Sparse facial and body hair
- Undescended testes
- Infertility
Diagnosis of AIS
AIS is diagnosed through a combination of physical examinations, blood tests, and genetic testing. Doctors will typically perform a physical exam to assess the individual’s sexual development and may order blood tests to measure hormone levels. Genetic testing can confirm the diagnosis of AIS by identifying mutations in the AR gene.
AR Gene and AIS
The AR gene provides instructions for making a protein called the androgen receptor, which is responsible for binding to androgens and signaling the body to develop male sexual characteristics. Mutations in the AR gene can lead to complete or partial AIS by affecting the function of the androgen receptor.
NGS Genetic Test for AIS
Next-generation sequencing (NGS) is a powerful tool that allows doctors to analyze an individual’s DNA for mutations in the AR gene. This test can identify the specific genetic mutations that cause AIS and can help doctors develop a personalized treatment plan. The cost of an NGS Genetic Test for AIS in India is approximately INR 20,000.
Conclusion
Androgen insensitivity syndrome is a genetic disorder that affects sexual development before birth and during puberty. It can be complete or partial and is associated with an increased risk of breast cancer in women. AIS is diagnosed through a combination of physical examinations, blood tests, and genetic testing. Next-generation sequencing is a powerful tool that can identify the specific genetic mutations that cause AIS and can help doctors develop a personalized treatment plan.
If you suspect you or a loved one may have AIS, it is important to speak with a healthcare professional to receive a proper diagnosis and treatment plan.
For more information on AIS or to schedule an NGS Genetic Test, please contact DNA Labs India.
| Test Name | AR Gene Androgen insensitivity, partial, with or without breast cancer NGS Genetic Test |
|---|---|
| Sample type | Blood or Extracted DNA or One drop Blood on FTA Card |
| Test type | General Physician |
| Pre-test Information | Clinical History of Patient who is going for AR Gene Androgen insensitivity, partial, with or without breast cancer NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with AR Gene Androgen insensitivity, partial, with or without breast cancer NGS Genetic Test gene AR |
| Disease | Hepatology Nephrology Endocrinology Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for AR Gene Androgen insensitivity, partial, with or without breast cancer NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with AR Gene Androgen insensitivity, partial, with or without breast cancer NGS Genetic Test gene AR |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for AR Gene Androgen insensitivity, partial, with or without breast cancer NGS Genetic Test and the test costs a special discounted price of 20000 INR across India. The cities where this service is available include Mumbai, Delhi, Bangalore, Hyderabad, Ahmedabad, Chennai, Kolkata, Surat, Pune, Jaipur, Lucknow, Kanpur, Nagpur, Indore, Thane, Bhopal, Visakhapatnam, Pimpri-Chinchwad, Patna, Vadodara, Ghaziabad, Ludhiana, Agra, Nashik, Faridabad, Meerut, Rajkot, Kalyan-Dombivali, Vasai-Virar, Varanasi, Srinagar, Aurangabad, Dhanbad, Amritsar, Navi Mumbai, Prayagraj, Howrah, Ranchi, Jabalpur, Gwalior, Coimbatore, Vijayawada, Jodhpur, Madurai, Raipur, Kota, Guwahati, Chandigarh, Thiruvananthapuram, Solapur, Hubballi-Dharwad, Tiruchirappalli, Tiruppur, Moradabad, Mysore, Bareily, Gurgaon, Aligarh, Jalandhar, Bhubaneswar, Salem, Mira-Bhayandar, Warangal , Guntur , Bhiwandi, Saharanpur, Gorakhpur, Bikaner, Amravati, Noida, Jamshedpur, Bhilai, Cuttack, Firozabad, Kochi, Nellore , Bhavnagar, Dehradun, Durgapur, Asansol, Rourkela, Nanded, Kolhapur, Ajmer, Akola, Gulbarga, Jamnagar, Ujjain, Loni, Siliguri, Jhansi, Ulhasnagar, Jammu, Sangli-Miraj & Kupwad, Mangalore, Erode10, Belgaum, Ambattur, Tirunelveli, Malegaon, Gaya, Jalgaon, Udaipur, Maheshtala, Davanagere, Kozhikode, Kurnool, Rajpur Sonarpur, Rajahmundry , Bokaro, South Dumdum, Bellary, Patiala, Gopalpur, Agartala, Bhagalpur, Muzaffarnagar, Bhatpara, Panihati, Latur, Dhule, Tirupati , Rohtak, Korba, Bhilwara, Berhampur, Muzaffarpur, Ahmednagar, Mathura, Kollam, Avadi, Kadapa, Kamarhati, Sambalpur, Bilaspur, Shahjahanpur, Satara, Bijapur, Rampur, Shivamogga, Chandrapur, Junagadh, Thrissur, Alwar, Bardhaman, Kulti, Kakinada, Nizamabad, Parbhani, Tumkur, Khammam, Ozhukarai, Bihar Sharif, Panipat, Darbhanga, Bally, Aizawl, Dewas, Ichalkaranji, Karnal, Bathinda, Jalna, Eluru, Kirari Suleman Nagar, Barasat, Purnia, Satna, Mau, Sonipat, Farrukhabad, Sagar, Rourkela, Durg, Imphal, Ratlam, Hapur, Arrah, Karimnagar, Anantapur, Etawah, Ambernath, North Dumdum, Bharatpur, Begusarai, New Delhi, Gandhidham, Baranagar, Tiruvottiyur, Puducherry, Sikar, Thoothukudi, Rewa, Mirzapur, Raichur, Pali, Ramagundam , Haridwar, Vijayanagaram, Katihar, Nagarcoil, Sri Ganganagar, Karawal Nagar, Mango, Thanjavur, Bulandshahr, Uluberia, Murwara, Sambhal, Singrauli, Nadiad, Secunderabad, Naihati, Yamunanagar, Bidhan Nagar, Pallavaram, Bidar, Munger, Panchkula, Burhanpur, Raurkela Industrial Township, Kharagpur, Dindigul, Gandhinagar, Hospet, Nangloi Jat, Malda, Ongole, Deoghar, Chapra, Haldia, Khandwa, Nandyal, Chittoor , Morena, Amroha, Anand, Bhind, Bhalswa Jahangir Pur, Madhyamgram, Bhiwani, Navi Mumbai Panvel Raigad, Baharampur, Ambala, Morvi, Fatehpur, Rae Bareli, Khora, Bhusawal, Orai, Bahraich, Vellore, Mahesana, Sambalpur, Raiganj, Sirsa, Danapur, Serampore, Sultan Pur Majra, Guna, Jaunpur, Panvel, Shivpuri, Surendranagar Dudhrej, Unnao, Hugli and Chinsurah, Alappuzha, Kottayam, Machilipatnam, Shimla, Adoni, Tenali, Proddatur, Saharsa, Hindupur, Sasaram, Hajipur, Bhimavaram, Dehri, Madanapalle, Siwan, Bettiah, Guntakal, Srikakulam, Motihari, Dharmavaram, Gudivada, Narasaraopet, Bagaha, Miryalaguda, Tadipatri, Kishanganj, Karaikudi, Suryapet, Jamalpur, Kavali, Tadepalligudem, Amaravati, Buxar, Jehanabad, Aurangabad.
