Primary Amenorrhoea

Question 1

Define primary amenorrhoea

Answer 1

failure of menstrual periods to start by 15 years of age in a female with normal growth and secondary sexual characteristics. May be diagnosed at 13 in the absence of pubertal maturation + menses.

Question 2

What can PA result from?

Answer 2

1. Constitutional delay in puberty
2. Chromosomal or genetic abnormalities such as Turner syndrome (45 XO), Kallmann syndrome, and androgen insensitivity syndrome
3. Dysregulation of the hypothalamic or pituitary glands
4. Structural abnormalities of the genital tract
5. Pregnancy

Question 3

What dyregulation of the glands can lead to PA?

Answer 3

Anorexia or other eating disorders
Excessive exercise
Extreme physical or psychological stress

Question 4

What structural abnormalities of the genital tract can lead to PA?

Answer 4

An imperforate hymen that obstructs menstrual flow (leading to haematocolpos)
Uterine agenesis

Question 5

What are signs and symptoms of PA?

Answer 5

Absence of menses (in some case secondary sexual characteristics also)

Question 6

What conditions can cause similar symptoms?

Answer 6

Hypothalamic amenorrhoea: Characterised by low levels of gonadotropin-releasing hormone (GnRH) due to stress, low body weight, or excessive exercise

Polycystic ovary syndrome (PCOS): Symptoms include irregular periods, excessive hair growth, acne, and obesity

Hypogonadotropic hypogonadism: Symptoms include absent or delayed puberty, and low levels of sex hormones

Hyperprolactinemia: Symptoms include irregular or absent periods, and production of breast milk

Gonadal dysgenesis: Symptoms include short stature, webbed neck, and broad chest

Question 7

What investigations can be done for PA?

Answer 7

Hormonal tests: To assess levels of follicle-stimulating hormone (FSH), luteinizing hormone (LH), and estradiol

Genetic tests: To identify chromosomal or genetic abnormalities

Imaging: To identify structural abnormalities

Question 8

How can PA be managed?

Answer 8

Hormone replacement therapy: For hormonal imbalances

Surgery: For structural abnormalities

Psychological support: For conditions related to stress or eating disorders

Lifestyle modifications: For issues related to excessive exercise or low body weight

Monitoring and regular follow-ups: To assess effectiveness of treatment and adjust as necessary