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Amenorrhea – differentials

Primary Amenorrhea:

  • Gonadal Dysgenesis: Including Turner syndrome (45,X karyotype) and other forms of chromosomal abnormalities.
  • Müllerian Agenesis: Also known as Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, characterized by the congenital absence of the uterus and the upper part of the vagina.
  • Androgen Insensitivity Syndrome: A condition where an individual is genetically male (46,XY karyotype) but is resistant to male hormones (androgens), leading to the development of female physical traits but no menstruation.
  • Hypothalamic Dysfunction: Including functional hypothalamic amenorrhea due to stress, weight loss, excessive exercise, or chronic illness.
  • Pituitary Disorders: Such as pituitary tumors or hyperprolactinemia.
  • Congenital Adrenal Hyperplasia: A group of genetic conditions limiting hormone production in the adrenal glands.
  • Imperforate Hymen: A physical obstruction of menstrual flow.

Secondary Amenorrhea:

  1. Pregnancy: The most common cause of secondary amenorrhea.
  2. Polycystic Ovary Syndrome (PCOS): A hormonal disorder causing enlarged ovaries with small cysts.
  3. Thyroid Dysfunction: Both hyperthyroidism and hypothyroidism can lead to menstrual irregularities.
  4. Hyperprolactinemia: Elevated levels of prolactin can disrupt menstrual cycles.
  5. Functional Hypothalamic Amenorrhea: Related to stress, excessive weight loss, or exercise.
  6. Premature Ovarian Insufficiency: Early depletion of ovarian follicles before the age of 40.
  7. Cushing’s Syndrome: Excess cortisol production can affect menstrual cycles.
  8. Medications: Certain drugs, including antipsychotics and antidepressants, can cause menstrual irregularities.
  9. Chronic Illnesses: Conditions like celiac disease or systemic lupus erythematosus (SLE) may lead to amenorrhea.
  10. Eating Disorders: Anorexia nervosa and bulimia can disrupt menstrual cycles due to hormonal imbalances associated with extreme weight loss or gain

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