Differential Diagnosis for a 38-year-old Female with Infertility
Single Most Likely Diagnosis
- Polycystic Ovary Syndrome (PCOS): Elevated DHEA and testosterone levels, along with infertility, are consistent with PCOS. The slightly elevated LH and normal FSH also support this diagnosis, as PCOS is often characterized by an LH/FSH ratio greater than 2.
Other Likely Diagnoses
- Thyroid Dysfunction: A TSH of 5.440 is elevated, indicating hypothyroidism, which can contribute to infertility. Thyroid issues can also affect menstrual cycles and ovulation.
- Hyperprolactinemia: A prolactin level of 40.5 is mildly elevated, which can disrupt ovulation and contribute to infertility. However, the level is not significantly high to be the sole cause of her symptoms.
- Adrenal Hyperplasia: The elevated 17 OH pregnenolone could suggest a form of congenital adrenal hyperplasia, but this would typically present with more significant symptoms and signs of androgen excess.
Do Not Miss Diagnoses
- Pituitary Tumor: Although the prolactin level is only mildly elevated, any degree of hyperprolactinemia could be due to a pituitary tumor, which is a potentially serious condition that needs to be ruled out.
- Thyroid Cancer or Other Thyroid Pathology: An elevated TSH warrants further investigation to rule out thyroid cancer or other thyroid pathologies that could indirectly affect fertility.
Rare Diagnoses
- Cushing's Syndrome: This condition, characterized by excess cortisol, can cause infertility and androgen excess. However, the clinical presentation typically includes significant weight gain, hypertension, and other signs not mentioned here.
- Androgen-Secreting Tumors: Ovarian or adrenal tumors secreting androgens could explain the elevated DHEA and testosterone but are rare and would likely present with more pronounced virilization.
- Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: This condition can cause infertility and elevated androgen levels. The elevated 17 OH pregnenolone is a hint, but CAH typically presents in infancy or early childhood, making it less likely in this scenario unless it's a late-onset form.