Definition

Amenorrhea is a condition characterized by the absence of menstruation. Primary amenorrhea is a medical disorder characterized by the absence of the first occurrence of menstruation until the age of 15 or the absence of menstruation within five years after the initial signs of puberty, such as breast development.

Primary amenorrhea is an uncommon condition. For instance, primary amenorrhea has a prevalence of only 1% in the whole population of the United States. Nevertheless, it is crucial to be careful with primary amenorrhea, as it has the potential to adversely affect the patient's future quality of life. Chromosomal abnormalities, particularly Turner syndrome, are the most common cause of primary amenorrhea, responsible for around 43% of cases in the United States. The management of primary amenorrhea is dependent on the etiology and underlying disease.

Causes

Common causes of primary amenorrhea include genetic abnormalities in the ovaries and hormonal dysregulation in the pituitary gland and hypothalamus of the brain. These two glands play a crucial role in regulating the equilibrium of reproductive and growth hormones in humans. An imbalance in these two glands might lead to primary amenorrhea. Primary amenorrhea can also result from issues with a woman's reproductive system's structure, such as a hymen that is absent or closed off in the vagina, a septum or barrier in the uterus, a vagina that isn't long enough, or a cervix that isn't developing properly.

Risk factor

Several risk factors associated with primary amenorrhea include:

• Family history of amenorrhea
• Family history of early menopause
• Genetic or chromosomal abnormalities
• Chronic hormone-regulating disorders like PCOS
• Hypothalamic and pituitary tumors
• Abnormal vaginal or reproductive anatomy
• Eating disorders such as anorexia

Symptoms

Primary amenorrhea is characterized by the first menstruation occurring at 15 years old or 5 years after puberty. Sometimes there are no further symptoms. There are various symptoms, including:

• The visage and tactile sensation of the visage are characterized by heightened temperature and a reddened appearance.
• Exuding mammary secretions from the nipples
• Lack of lubrication in the vagina
• Pelvic pain
• Cephalalgia
• Blindness or low vision
• Acne
• Hirsutism is characterized by abnormal and excessive hair growth on the face and body

Diagnosis

To diagnose primary amenorrhea, the doctor will perform an anamnesis, which involves asking the patient questions to gather information about their medical history and present condition. Following this, a physical examination and other tests will be conducted to further validate the diagnosis.

The medical inquiry begins with inquiring about the patient's primary complaint, any associated complaints, duration of the complaint, history of amenorrhea, hormonal diseases, and chromosomal diseases in the family, daily activities, eating patterns, past illnesses, and specific medications.

Subsequently, the physician will do a comprehensive physical assessment. The initial assessment involves assessing vital signs and doing a comprehensive physical examination from head to toe if the physician suspects indications of hormone dysregulation. Physicians can also evaluate the patient's indicators of puberty on a specific scale. If the doctor suspects a structural issue in the patient's reproductive organs, they can perform a vaginal examination.

In addition to conducting the physical examination, the physician performs additional examinations to validate the prior diagnosis. Pregnancy tests, blood tests to determine hormone levels, and radiological examinations such as ultrasound and MRI to assess the condition of the pituitary gland and hypothalamus, respectively, are typically advised. Ultrasound examines the condition of the reproductive organs.

Misdiagnosis may result from an incorrect diagnosis of primary amenorrhea. Chronic diseases such as polycystic ovary syndrome, malnutrition, Kallman syndrome or hypogonadotropic hypogonadism, the female athlete triad, emotional or physical stress, and polycystic ovary syndrome exhibit symptoms similar to those of primary amenorrhea.

Management

The treatment of primary amenorrhea is dependent on its underlying cause. Hormone replacement therapy is the treatment of choice for hormonal imbalances to restore normal hormone levels. In cases of primary amenorrhea, which arises from anomalies in the reproductive organs and anatomical structure, surgical intervention is necessary. In addition to this therapeutic approach, potential complications may be prevented through preventive measures such as counseling and education for the patient's psychological well-being concerning primary amenorrhea.

The treatment duration for patients with primary amenorrhea is considerable. Even if the treatment is effective, the patient still needs to see the doctor for an evaluation of the reproductive system and therapy progress. Monitoring can occasionally last between six months and two years.

Complications

Although not a life-threatening condition, primary amenorrhea can lead to substantial complications. Among them are osteoporosis and bone loss if decreased estrogen hormone levels are the cause of primary amenorrhea. Additionally, it has the potential to induce infertility, particularly among women. Women may also develop psychological and mental disorders as a result of their diminished self-esteem.

Prevention

There are no specific prevention strategies for primary amenorrhea. Rapid screening is particularly imperative in cases where primary amenorrhea has a familial predisposition. However, women should experience primary amenorrhea adhere to the following recommendations:

• Maintain a diet balanced with vitamins, fiber, and protein.
• Exercise and regular physical activity to maintain body mass index
• Get 7–8 hours of sleep daily.

In addition, young women must be educated on the first menstrual cycle and normal menstrual cycles to recognize the indicators of puberty and know when to seek medical attention if they develop amenorrhea. Menstruation and reproductive health are crucial subjects to educate adolescents about to prevent them from being stigmatized.

When to see a doctor?

Consult the doctor immediately if you do not begin menstruating by the age of 15, particularly if your family has a history of the same condition. Visiting a pediatrician who specializes in endocrine and metabolic disorders is advised to complete a comprehensive screening.

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