Genetic Health Problems Faced By Women

Common Genetic Disorders That Affect Women

1. Breast Cancer

Breast cancer, after skin cancer, is the most common cancer that affects women. It occurs when mutations (changes) occur in the genes that regulate cell growth. This mutation enables the cells in the breast to grow uncontrollably, causing breast cancer. Breast cancer can begin in different parts of the breast - lobules (glands that produce milk), ducts (tubes that carry milk to the nipples), or the connective tissue (tissue that holds everything together). Breast cancer can easily spread outside the breast through blood and lymph vessels.

Some of the common symptoms of the condition include:

• New lump in the breast or the underarm
• Thickening or swelling in parts of the breasts
• Irritation of breast skin
• Redness or flaky skin around the nipple area or the breasts
• Pulling in of the nipple or pain around the nipple area
• Nipple discharge other than breast milk, including blood
• Visible changes in the size or the shape of the breasts
• Breast pain

There are two major types of breast cancer - invasive ductal carcinoma in which the cancer cells grow outside the ducts and into other parts of the breast tissue, and invasive lobular carcinoma in which cancer cells spread to the breast tissue through the lobules.

2. Ovarian Cancer

Ovarian cancer occurs when there’s an abnormal growth of cells in the ovary that ultimately forms a tumor. When left untreated, the tumor can spread to other parts of the body, leading to a condition called metastatic ovarian cancer.

Although the condition possesses warning signs, the earliest symptoms are vague and may go undetected until it spreads within the pelvis and abdomen. Common symptoms of the condition include:

• Bloating or swelling of the abdomen
• Quickly feeling full when eating
• Unexplained weight loss
• Discomfort in the pelvis area
• Changes in bowel habits
• Frequent need to urinate

3. Rett Syndrome

Rett syndrome is a rather rare genetic condition. It causes neurological and developmental disorders that affect the way the brain develops, which further causes a progressive loss of motor skills and speech. This disorder primarily affects girls due to their genetic makeup.

In 1999, it was discovered by NICHD-supported scientists that most of the classic Rett syndrome cases are caused by a mutation in the methylcytosine-binding protein 2 (MECP2) gene. This gene is located on the X chromosome and since females have two X chromosomes, the prevalence of Rett syndrome is high in females. Most babies with the condition develop normally for the first couple of years, and may later lose skills they previously had, such as crawling, walking, communicating or using their hands.

Common symptoms of Rett syndrome include:

• Slowed growth
• Loss of normal movement and coordination
• Loss of communication abilities
• Abnormal hand and eye movements
• Breathing problems
• Cognitive disabilities
• Irritability and crying
• Irregular heartbeat Seizures Scoliosis

4. Turner Syndrome

Turner syndrome is a genetic condition that is detected only in women. It occurs when one of the X chromosomes is partially missing or is incomplete. This condition can cause a variety of medical and developmental problems such as short height, failure of the ovaries to develop, heart problems, etc. Women with this syndrome need constant medical care from a variety of specialists.

Symptoms of Turner syndrome may vary. For some, the symptoms may not be very prominent, but in others, the signs and symptoms may be clear such as poor growth, distinct physical features, and heart defects.

These were a few of the many notable genetic conditions that women bear exclusively. However, there are many other conditions and diseases that affect only women or affect them more because of their genetic makeup. PCOS is another disorder affecting women because of genetic mutations. This may lead to diabetes and endometrial cancer in some women in the long run.

Dr G Santoshini Gowrishett

MBBS, MS (GYN & OBS), FMAS

Consultant - Gynecologist

Disclaimer:The views and opinions expressed in this article belong solely to the author. They do not reflect the opinions or views of the organization.