Differential Diagnosis for 21 yo Female with Weight Gain, Stria, and Fat Pad on Upper Back

• Single Most Likely Diagnosis
  • Cushing's Syndrome: This condition is characterized by excess cortisol production, leading to weight gain, particularly in the central area, striae (stretch marks), and fat accumulation on the upper back (buffalo hump). The combination of these symptoms strongly suggests Cushing's Syndrome as the primary diagnosis.
• Other Likely Diagnoses
  • Polycystic Ovary Syndrome (PCOS): PCOS can cause weight gain, striae, and changes in body composition, including fat distribution. However, the presence of a fat pad on the upper back is less specific for PCOS.
  • Hypothyroidism: Although less directly linked to the specific combination of symptoms, hypothyroidism can cause weight gain and changes in skin texture, potentially leading to striae. Fat distribution changes are also possible but are not as characteristic as in Cushing's Syndrome.
• Do Not Miss Diagnoses
  • Pheochromocytoma: This rare tumor of the adrenal gland can lead to excess catecholamine production, causing weight changes, among other symptoms. While less likely, missing this diagnosis could be fatal due to the potential for severe hypertension and cardiac complications.
  • Adrenal Insufficiency: Although the presentation might differ, in some cases, adrenal insufficiency can lead to weight changes and skin alterations. Missing this diagnosis could have significant consequences, including adrenal crisis.
• Rare Diagnoses
  • Multiple Endocrine Neoplasia (MEN) Syndromes: These are hereditary conditions that affect the endocrine system, potentially leading to a variety of symptoms, including weight gain and changes in fat distribution. However, they are rare and would be considered after more common diagnoses have been ruled out.
  • Familial Partial Lipodystrophy: A rare genetic disorder characterized by abnormal fat distribution, which could potentially present with a fat pad on the upper back, although the overall clinical picture would likely differ from the one described.