MLAB 2401: Clinical Chemistry
Keri Brophy-Martinez
Disorders of the Adrenal Gland
Addison’s Disease
• What is it?
– Atrophy or destruction of adrenal cortex
(PRIMARY)
• Idiopathic
• Autoimmune adrenalitis
• Tuberculosis
– Adrenal insufficiency (SECONDARY)
• Hypothalamic/pituitary disease
Clinical Features: Addison’s Disease
Laboratory
• Decreased cortisol levels
– Both serum & urine
• Decreased aldosterone
• Increased ACTH
– > 200 pg/mL
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Manifestations
Increased skin pigmentation
Tiredness
Intestinal issues
Hypotension
Hypoglycemia
Hyperkalemia
Hyponatremia/hypocholoremia
Loss of body hair
Depression
Addison’s Disease
Increased MSH
Increased
pigment of skin
No
inhibition
of ACTH
Increased
ACTH
Shrunken Adrenal
Cortex
Low
cortisol
Low
Aldosterone
Cushing’s Syndrome
• Caused by:
– Excess glucocorticoid production
• Cortisol-secreting adrenal carcinoma or adenoma
– Prolonged exogenous steroid use
• iatrogenic
Laboratory Features
• Increased serum
cortisol
– Lack of diurnal variation
of cortisol
• Hyperglycemia
Sunheimer, R., & Graves, L. (2010). Clinical Laboratory Chemistry.
Upper Saddle River: Pearson
Cushing’s Syndrome
• Manifestations
– Weight gain in face and
abdomen
– Buffalo hump back
– Muscle
wasting/weakness
– Easy bruising
– Hypertension
– Osteoporosis
– Hyperglycemia
Conn’s Syndrome
• Caused by:
– Aldosterone-secreting adrenal adenoma of
adrenal cortex (Primary)
– Disorders within the renin-angiotensin system
(Secondary)
Clinical Features: Conn’s Syndrome
Laboratory
• Low serum potassium
• High serum sodium
• High aldosterone levels
• Acid/base imbalances
Manifestations
• Muscle weakness
• Increased urination
• Hypertension
Adrenal Medulla Disorders
• Pheochromocytoma
– Benign or malignant tumors in the adrenal
medulla
– Causes hypertension
• Neuroblastoma/Ganlioneuromas
– Common malignant tumors in pediatric patients
Disorders of Sexual Development
Testosterone
• Hyperandrogenemia
– Increased testosterone production
• In females: hirsutism ( see next slide)
– Due to tumors in hypothalamus, testicles, or
congenital adrenal hyperplasia
• Hypoandrogenemia
– Decreased testosterone production
– Due to infections, tumors, congenital disorders, or
decreased function of pituitary/ hypothalamus
Hirsutism
• Abnormal, abundant,
hair growth( lip, chin,
side burn, neck)
• Loss of female sex
characteristics
• Ethnic origin important
– Italians, eastern
europeans, eastern
Indian, Irish
hCG & Human placental lactogen
• hCG
– Increased
• Hydatidiform mole, choriocarcinoma, pre-eclamptic
toxemia
– Decreased
• Threatened abortion, ectopic pregnancy
• Human placental lactogen
– Normal to rise throughout gestation
– Decreased levels suggest placental malfunction or fetal
distress
Estrogen
• Hyperestrinism
– Overproduction of estrogen
– Females
• Early puberty
• Infertility & irregular menses
• Postmenopausal bleeding
– Males
• Testicular atrophy
• Breast enlargement
Estrogen
• Hypoestrinism
– Decreased production of estrogen
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Ovarian insufficiency
Delayed puberty
Amenorrhea
Turner Syndrome
Progesterone
• Hyperprogesteronemia
– Prevents menstrual cycle
• Hypoprogesteronemia
– Results in infertility
– Abortion of fetus
Menstrual Cycle Abnormalities
• Average cycle is 28 days
• Menopause between 45-55 years
• Amenorrhea
– Absence of menses
– Primary: never menstruated
– Secondary: Had at least one menstrual cycle
• Oligomenorrhea
– Irregular menses
– Cycle length in excess of 35- 40 days
• Menorrhagia
– Uterine bleeding > 7 days
References
• Bishop, M., Fody, E., & Schoeff, l. (2010). Clinical
Chemistry: Techniques, principles, Correlations.
Baltimore: Wolters Kluwer Lippincott Williams
& Wilkins.
• Sunheimer, R., & Graves, L. (2010). Clinical
Laboratory Chemistry. Upper Saddle River:
Pearson .
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