Congenital Adrenal Hyperplasia

• A syndrome inherited as an autosomal recessive trait.

  1. The primary defect is the inability of the adrenal glands to synthesize cortisol from its precursors.

  ● Cortisol: primary glucocorticoid secreted by our adrenal cortex

  2. Thus, ACTH from the anterior pituitary gland increases to stimulate the cortex to improve function.

  ● Physiologically, the ACTH (adrenocorticotropic hormone) from the anterior pituitary gland stimulates the adrenal cortex to secrete its hormone. So if the pituitary gland sees the need for more cortisol, its action to secrete ACTH increases
• 3. Although adrenals enlarge, they still cannot produce cortisol, instead, they overproduce androgen

  ● Because aside from cortisol, the adrenal cortex secretes other hormones —

  ○ Mineralocorticoid: primarily aldosterone, very similar in action to cortisol

  ○ Sex Hormones: bulk of androgen but some is estrogen

  ● In this case, they overproduce androgen instead because of the increased ACTH production.
• ASSESSMENT

  ● Children with CAH have increased levels of androgen and these causes the following in females and in males

  IN FEMALES

  ● Masculinizes the female fetus as clitoris enlarges and appearslike a penis upon birth

  ● A sinus between urethra and vagina is present, may presentambiguous genitalia

  ● Labia are fused and resembles undescended testes andhypospadias
• ● Pubic and axillary hair and acne appear early because of too much androgen

  ● Deep masculine voice develops

  ● Epiphyseal closes early, thus prevents reaching adult height

  ● No breast development or menstruation in puberty because of the excessive androgen instead of estrogen
• IN MALES

  ● Size of fetal genital organs increases

  ● Have acne and a deep, mature voice that develops early

  ● No spermatogenesis, so males are infertile

  ● By 3 or 4 years old, has enlarged penis, scrotum, and prostate

  ○ The testes is not enlarged so it appears small because of the enlarged penis
• ● Hydrocortisone PO: a corticosteroid which replaces what is not produced naturally

  ○ May need to be continued indefinitely or for life.

  ○ Stimulation of ACTH decreases, and androgen returns to normal levels.

  ● The child needs periodic analysis of serum cortisol and growth measurements to estimate the effectiveness of the hydrocortisone therapy.
• DETECTION IN INTRAUTERINE LIFE

  1. Chorionic Villi Sampling (CVS): by 6 to 8 weeks AOG

  2. Amniocentesis: by 15 weeks AOG

  ● Dexamethasone: given to the mother which crosses placenta and prevent fetal effects of increased androgen