Pathogenesis of 21-Hydroxylase Deficiency

Adrenogenital Syndrome

• Characterized by:
  • Masculine body structure
  • Male-type hair growth
  • Low and rough voice
  • Amenorrhea
  • Clitoris size: 4 cm
  • Laboratory studies: 46XX chromosomes
  • High levels of 17-hydroxyprogesterone, 17-ketosteroids, androstenedione, and ACTH in blood serum
  • Reduced 21-hydroxylase activity
• Leading link in pathogenesis: decreased cortisol synthesis and increased ACTH production

Acute Kidney Injury

• Patient's condition deteriorates 2 days after admission with:
  • Low diuresis (300 ml/day)
  • High serum creatinine (300 µmol/l)
• Most likely cause: development of acute renal failure

Chronic Glomerulonephritis

• Patient suffers from chronic diffuse glomerulonephritis for 5 years with:
  • Aching pains in the heart
  • Palpitations
  • Pronounced edema
  • Urinalysis: granular and waxy cylinders in large numbers
  • Blood test: high residual nitrogen, low total protein and albumins, hyperlipidemia
• Edema caused by: decrease in oncotic blood pressure

Chronic Renal Failure

• Patient presents with:
  • Drowsiness during the day
  • Insomnia at night
  • Nausea
  • Diarrhea
  • Skin itching
  • High blood pressure
  • Expansion of heart borders to the left
  • Pericardial rub
  • Low erythrocytes, hemoglobin, and leukocytes
  • Low clearance of endogenous creatinine
  • Low diuresis
• Most likely diagnosis: uremia

Urinary Tract Infection

• Patient presents with:
  • Body temperature 38°C
  • Dysuria
  • Pain in the lumbar region
  • Numerous neutrophils and leukocyte casts in urine
  • Bacteriological examination: >105 bacteria/ml of urine
• Most likely diagnosis: pyelonephritis

Nephrotic Syndrome

• Patient presents with:
  • Aching pains in the heart
  • Palpitations
  • Pronounced edema
  • Urinalysis: daily diuresis 1000 ml, relative density 1.042, protein 3.3%
  • Microscopy of urine sediment: granular and waxy cylinders in large numbers
  • Blood pressure 170/95 mmHg

True Puberty

• Girl presents with:
  • Enlargement of mammary glands
  • Female-type hair growth
  • Menstruation at 6 years 11 months
  • High concentration of gonadoliberin, FSH, and estradiol
• Most likely diagnosis: true puberty

Hypogonadism

• Boy presents with:

  • Low testosterone (4.6 nmol/l)
  • Low LH (0.3 mIU/ml)
  • Low FSH (0.8 mIU/ml)

• Most likely diagnosis: secondary hypogonadism

• Girl presents with:

  • Low estradiol (90.6 pmol/l)
  • High LH (78.5 mIU/ml)
  • High FSH (60.4 mIU/ml)

• Most likely diagnosis: primary hypogonadism

Urolithiasis

• Patient presents with:
  • Persistent, severe pain in the right side
  • Normal body temperature
  • No dysuria
  • High blood pressure
  • Tachycardia
  • Unchanged erythrocytes in urine
• Most likely diagnosis: urolithiasis