Pathogenesis of 21-Hydroxylase Deficiency
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Questions and Answers

What is the likely diagnosis of a patient with a low testosterone level and low LH and FSH levels?

  • Primary hypogonadism
  • True puberty
  • Adrenogenital syndrome
  • Secondary hypogonadism (correct)
  • A patient presents with severe pain in the right side, unchanged erythrocytes in the urine, and normal body temperature. What is the most likely diagnosis?

  • Cystitis
  • Pyelonephritis
  • Glomerulonephritis
  • Urolithiasis (correct)
  • A urinalysis reveals protein, erythrocyte casts, and changed erythrocytes. What is the most likely diagnosis?

  • Acute glomerulonephritis (correct)
  • Nephrotic syndrome
  • Cystitis
  • Pyelonephritis
  • A patient has a low estradiol level and high LH and FSH levels. What is the most likely diagnosis?

    <p>Primary hypogonadism</p> Signup and view all the answers

    What is the diagnosis of a patient with a low testosterone level and high LH and FSH levels?

    <p>Primary hypogonadism</p> Signup and view all the answers

    A patient presents with shortness of breath, palpitations, and headache after suffering a severe form of angina. What is the most likely diagnosis?

    <p>Acute glomerulonephritis</p> Signup and view all the answers

    What is the diagnosis of a patient with a low testosterone level and normal LH and FSH levels?

    <p>Secondary hypogonadism</p> Signup and view all the answers

    A urinalysis reveals protein and erythrocytes in the urine. What is the most likely diagnosis?

    <p>Nephrotic syndrome</p> Signup and view all the answers

    What is the diagnosis of a patient with a low estradiol level and normal LH and FSH levels?

    <p>Secondary hypogonadism</p> Signup and view all the answers

    A patient presents with pain in the lumbar region and shortness of breath. What is the most likely diagnosis?

    <p>Acute glomerulonephritis</p> Signup and view all the answers

    Study Notes

    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

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    Description

    Identify the leading link in the pathogenesis of a syndrome characterized by masculine body structure, amenorrhea, and hormonal imbalances. Laboratory studies reveal specific changes in hormone levels and enzyme activity.

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