Differential Diagnosis for 11-year-old Male with Elevated Growth Hormone and DHEA, Low FSH

• Single Most Likely Diagnosis
  • Precocious Puberty: This condition is characterized by early onset puberty, which can be caused by elevated levels of sex hormones such as DHEA. Elevated growth hormone can also contribute to rapid growth, a common feature of precocious puberty. Low FSH levels may indicate that the precocious puberty is centrally mediated, meaning it's triggered by the brain rather than by a problem with the gonads (testes or ovaries) themselves.
• Other Likely Diagnoses
  • Congenital Adrenal Hyperplasia (CAH): This is a group of inherited disorders that affect the adrenal glands, leading to an imbalance in the production of various hormones, including DHEA. Elevated DHEA levels can cause early signs of puberty. Growth hormone levels might be elevated as a response to the metabolic effects of CAH.
  • Adrenal Tumor: A tumor in the adrenal gland could lead to excessive production of DHEA, causing precocious puberty. The growth hormone elevation could be secondary to the metabolic effects of the tumor or a separate issue.
• Do Not Miss Diagnoses
  • Pituitary Tumor: A tumor in the pituitary gland could cause an overproduction of growth hormone, leading to symptoms like rapid growth. If the tumor affects the production or regulation of other hormones, it could also explain the low FSH and elevated DHEA levels. Missing this diagnosis could lead to serious complications, including vision loss and hormonal imbalances.
  • Cushing's Syndrome: This condition, caused by excess cortisol, can lead to an increase in DHEA and other androgens, causing early puberty signs. Growth hormone levels might be affected indirectly due to the metabolic effects of excess cortisol.
• Rare Diagnoses
  • McCune-Albright Syndrome: A rare genetic disorder characterized by precocious puberty, café-au-lait skin spots, and fibrous dysplasia of bone. The hormonal imbalance could include elevated growth hormone and DHEA levels, with low FSH.
  • Familial Male-Limited Precocious Puberty: A rare condition caused by mutations in the LHCGR gene, leading to testotoxicosis, which is characterized by precocious puberty in males. This could potentially explain the hormonal findings, although growth hormone elevation would be less commonly associated directly with this condition.