Differential Diagnosis

The patient's laboratory results indicate an abnormal hormonal profile. Here's a differential diagnosis based on the provided categories:

• Single Most Likely Diagnosis

  • Congenital Adrenal Hyperplasia (CAH): The elevated 17-hydroxyprogesterone and androstenedione levels are suggestive of CAH, particularly the non-classic form. The increased DHEAS also points towards adrenal dysfunction, which is consistent with CAH.

• Other Likely Diagnoses

  • Polycystic Ovary Syndrome (PCOS): The patient's hormonal profile, including elevated androstenedione, testosterone, and AMH, along with a relatively low SHBG, is consistent with PCOS. However, the presence of significantly elevated 17-hydroxyprogesterone might suggest another primary diagnosis.
  • Adrenal Tumor: The high levels of DHEAS and androstenedione could indicate an adrenal tumor, although the presence of elevated 17-hydroxyprogesterone might suggest a different primary pathology.

• Do Not Miss Diagnoses

  • Cushing's Syndrome: Although the morning cortisol is not significantly elevated, the clinical context and the presence of other hormonal abnormalities necessitate considering Cushing's syndrome, especially given the potential for cyclic or atypical forms.
  • Pituitary Adenoma: The slightly elevated ACTH and the hormonal imbalances could suggest a pituitary adenoma, particularly if it's secreting ACTH (Cushing's disease) or has a mass effect altering other hormone secretions.

• Rare Diagnoses

  • 17,20-Desmolase Deficiency: This rare form of CAH could present with similar hormonal imbalances, including elevated 17-hydroxyprogesterone and androstenedione, but it's much less common.
  • Gonadal Dysgenesis: Although less likely given the patient's hormonal profile, certain forms of gonadal dysgenesis could present with abnormal sex hormone levels, including elevated testosterone and androstenedione.