Differential Diagnosis for Amenorrhea in a 19-Year-Old
Single Most Likely Diagnosis
- Polycystic Ovary Syndrome (PCOS): This is a common endocrine disorder among women of reproductive age, often presenting with amenorrhea, hirsutism, and obesity. The hormonal imbalance characteristic of PCOS can lead to ovulation problems, resulting in amenorrhea.
Other Likely Diagnoses
- Hypothyroidism: Thyroid dysfunction can affect menstrual regularity. Hypothyroidism, in particular, can lead to anovulation and amenorrhea due to its impact on the hypothalamic-pituitary-ovarian axis.
- Hyperprolactinemia: Elevated prolactin levels can suppress the secretion of gonadotropin-releasing hormone (GnRH), leading to decreased follicle-stimulating hormone (FSH) and luteinizing hormone (LH) secretion, which can cause amenorrhea.
- Stress or Excessive Exercise: Significant physical or psychological stress and excessive exercise can disrupt the normal menstrual cycle by affecting the GnRH pulse generator, leading to amenorrhea.
Do Not Miss Diagnoses
- Pituitary Tumor: Although rare, a pituitary tumor (such as a prolactinoma) can cause amenorrhea by disrupting normal pituitary function, including the secretion of hormones necessary for ovulation.
- Premature Ovarian Failure (POF): Now more commonly referred to as premature ovarian insufficiency (POI), this condition involves the loss of ovarian function before the age of 40, leading to amenorrhea.
- Congenital Adrenal Hyperplasia: This is a group of inherited disorders that affect the adrenal glands, leading to hormone imbalances that can cause amenorrhea among other symptoms.
Rare Diagnoses
- Androgen Insensitivity Syndrome: A rare condition where an individual is genetically male (XY chromosomes) but has a resistance to male hormones (androgens), often presenting with primary amenorrhea.
- Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome: A rare congenital disorder characterized by the absence or underdevelopment of the vagina and uterus, leading to primary amenorrhea.
- Swyer Syndrome: A rare genetic disorder characterized by the presence of XY chromosomes, undeveloped gonads (streak gonads), and a typical female external appearance, often presenting with primary amenorrhea.