Differential Diagnoses

 

PCOS is the most common cause of infertility as well as the most common endocrine disturbance among females in the United States. (McCance & Huether, 2019).

 

We suspect our patient, Sally, has PCOS from the symptoms she presents with: amenorrhea for 8 months, hirsutism, facial acne, and infertility.

 

Sally’s history also suggests a PCOS diagnosis. She has had type 2 diabetes mellitus for the past three years. Glucose intolerance (or insulin resistance) and hyperinsulinemia are often co-occurring with PCOS. Sally presents with acanthosis nigricans, an indicator of insulin resistance. Insulin resistance contributes to the hyperandrogenic state seen in PCOS. In addition, Sally’s mother has PCOS. Although the root cause of PCOS is not clear, there is evidence in the research of genetic involvement. Therefore, her family history of PCOS is another indicator of diagnosis. (McCance & Huether, 2019).

 

In order to diagnose Sally with PCOS, two of the following conditions must be present: (1) elevated androgen levels (can be clinical signs of hyperandrogenism), (2) polycystic ovaries, (3) oligo-ovulation or anovulation. For evaluation, observation of acne and/or hirsutism would be used to indicate hyperandrogenism and/or increased levels of androgens (testosterone, androstenedione) or DHEA from labs. An ultrasound can be performed to confirm the presence of polycystic ovaries. The patient’s report of amenorrhea and/or infertility can indicate oligo-ovulation or anovulation. Lastly, testing for impaired glucose tolerance is recommended to support diagnosis and determine best treatment. (McCance & Huether, 2019).

 

 

  • Cushing Syndrome

 

 

Cushing syndrome (CS) is a result of increased glucocorticoid hormone where there is an excess amount of cortisol produced by the adrenal gland. The overproduction of glucocorticoids leads to multiple disorders in many systems of the body. The cause of CS is organized in three categories:

 

  1. Iatrogenic cause (exogenous) – a result of excess cortisol from long-term use of glucocorticoids
  2. Primary cause (endogenous) – a result of cortisol-producing tumors in the adrenal glands
  3. Secondary cause (endogenous) – a result of excessive ACTH produced by pituitary adenomas leading to overproduction of cortisol from the adrenal glands

(Barres, 2018)

Symptoms of CS also present in our patient include:

  • Menstrual irregularities such as abnormal menstrual cycles, oligomenorrhea, amenorrhea
  • Adrenal androgen excess in women displayed by hirsutism and oily skin with acne on face, neck, or shoulders
  • Glucose intolerance as evidenced by type 2 diabetes
  • Polycystic ovaries (Rosenfield, 2018)

 

To assess for CS, a thorough history should be taken to rule out use of glucocorticoids. If the exogenous cause is ruled out, blood, saliva, and/or urine tests will be used to measure cortisol levels. In addition, CT or MRI scans of the pituitary gland and/or adrenal glands can be performed. If there is no history of glucocorticoid use, cortisol levels are normal and not abnormally high, and there is no evidence of adenoma, we may rule out CS diagnosis.

(Neiman, 2018)

 

  • Thyroid Dysfunction

 

 

Thyroid dysfunction or thyroid disease is also associated with polycystic ovaries and other symptoms related to our patient. If there is a disorder of the thyroid, sex hormone metabolism will be altered which leads to menstrual irregularities. Specifically, hypothyroidism is associated with multicystic ovarian changes and hyperandrogenism manifesting as coarsening of hair. Coarsening of hair can be mistaken for hirsutism. (McCance & Huether, 2019).

 

Hypothyroidism or thyroid dysfunction may be suspected in our patient due to her signs of:

  • Menstrual irregularity – amenorrhea for 8 months
  • Polycystic ovaries
  • Abnormal hair growth on face and body

 

To assess for thyroid dysfunction and/or hypothyroidism, a thorough physical exam will be completed to observe for: hypotension, cold sensitivity, weight gain, aching of joints, fatigue, and psychosocial or behavior changes. Patient may also have dry skin, a dry tongue or hoarseness, brittle nails, thin or dry hair, and cool, rough skin on palpation. Testing will include drawing labs for elevated levels of TSH, decreased levels of T3 and T4, and electrocardiogram for evidence of bradycardia. If these findings are normal, thyroid dysfunction may be ruled out. (McCance & Huether, 2019).