Pre-pubertal excess of growth hormone (GH) results in gigantism. Post-pubertal production results in acromegaly. Acromegaly results in enlargement of the bones and cartilage making the hands, feet, head and jaw large. Death is from cardiomegaly and CHF combined with hypertension, hyperglycemia and hyperlipidemia. IGF levels are the initial test. Glucose suppression is the most accurate test. Surgical removal is the best therapy.
Acute adrenal crisis happens from infection, trauma or surgery leading to hypotension, hyperkalemia, hyponatremia and increased skin pigmentation. Cosyntropin (artificial ACTH) does not increase the cortisol level. Treat acutely with hydrocortisone and saline.
CAH is an autosomal recessive disorder with several enzyme deficiencies that may result in BP abnormalities and signs of virilization. All forms have a high ACTH level, low aldosterone and low cortisol level. All are treated with prednisone.
Hypercortisolism of any cause results in hypertension, truncal obesity, moon face, osteoporosis, buffalo hump and acne. Random cortisol levels lack accuracy. A low morning cortisol after 1mg of dexamethasone at night excludes hypercortisolism. If the morning cortisol is elevated, a 24-hour urine cortisol is done. Pituitary adenomas and ectopic production have elevated ACTH levels. Adrenal adenoma and cancer have low ACTH levels. Use CT or MRI to confirm the location. Surgically remove the lesion.
Hyperaldosteronism is characterized by hypertension with hypokalemia. You find a high aldosterone level, despite a high sodium intake and low plasma renin activity. Adenomas are removed surgically and hyperplasia is treated with Spironolactone.
Hypercalcemia is most commonly from hyperparathyroidism, with malignancy being the second most frequent cause. Although often an asymptomatic accidental finding, high calcium causes constipation, lethargy, polyuria and when severe, coma. Check a parathyroid hormone level and remove them. Acute severe hypercalcemia is treated with fluids and loop diuretics first, and later with bisphosphonates.
High prolactin (PRL) levels may be caused by pregnancy, drugs and abnormal chest wall stimulation. Microadenomas producing PRL are the most common pituitary lesion. High PRL levels cause galactorrhea and menstrual abnormalities in women and erectile dysfunction in men. Exclude pregnancy and stop drugs. If the prolactin is still high, do an MRI of the pituitary. Treat with dopamine agonists.
Hypocalcemia is caused by vitamin D deficiency and hypoparathyroidism. It leads to neural symptoms such as tetany, carpopedal spasm, tingling of the lips and muscles, abdominal pain and, when very severe, seizures. Low albumin level gives a low total calcium with normal free calcium. Replace the calcium. Vitamin D and magnesium are replaced when these are the causes.
Hypothyroidism is most often from burnt out Hashimoto’s thyroiditis. Hypothyroidism results in fatigue, weakness, weight gain and general slowing of most organ systems. T4 is decreased and thyroid stimulating hormone (TSH) is increased. Replace thyroxine (T4).
Kallman syndrome is a genetic disorder presenting with hypogonadism and Anosmia. There is deficiency of gonadotropin releasing hormone (GnRH), FSH and LH. Treatment is with HCG and testosterone replacement in men, and with estrogen and progesterone replacement in women.
Klinefelter’s is an extra X chromosome with XXY on karyotype. Males are asymptomatic until puberty. Gynecomastia is common. Penis and muscle development are normal. Testes are small with azospermia and infertility. There are excessive gonadotropin levels.
MEN syndromes are the constellation of several inherited endocrine lesions. The diagnosis and management is based on the specific lesion found. There is no additional therapy just because they are part of a MEN syndrome.
Osteoporosis is an idiopathic loss of bone density presenting as vertebral, radial bone and hip fracture. Blood tests are normal and the diagnosis is confirmed by DEXA scanning of bone density. Prevent with calcium and vitamin D replacement. Bisphosphonates restore bone density. Raloxifene and estrogen replacement increase density.
Although often asymptomatic, Paget’s disease presents with bone pain, kyphosis, bowed legs and deafness occur. Calcium is normal with a high alkaline phosphatase. X-ray shows expanded bones with increased density. Treat with bisphosphonates and calcitonin.
Panhypopituitarism presents with deficiency of thyroid hormones, cortisol and gonadotropins. Deficiency of growth hormone (GH) and prolactin (PRL) are generally not symptomatic. Blood testing should always precede imaging in diagnosing endocrine disorders. Replace with prednisone, thyroxine and sex hormones. Growth hormone replacement is essential only in children.