Updated: 12/24/2021

21-Hydroxylase Deficiency

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  • Snapshot
    • An 8-month-old female presents with ambigous genitalia. Her urinary ketosteroids and 17-OH progesterone are twice the normal level. Additionally, testosterone levels are four times normal and urinary 17-hydroxycorticosteroids are decreased. Her brother had a similar disorder.
  • Introduction
    • A condition characterized by ambiguous genitalia in female
    • There is a non-classical from of this condition that may present in adolesence or adulthood with signs of hypertestosteronism
      • Most commonly females present with hirsuitism
  • Epidemiology
    • 1:15,000 children born with disorder
    • Can affect both males and females
  • Presentation
    • Symptoms
      • in females
        • abnormal mestruation cycles
        • deep voice
        • excessive hair growth
        • ambiguous genitalia (more male than female in most cases)
        • loss of vigor
        • loss of appetite
      • in males
        • no phenotypic problems at birth
        • may enter puberty early, sometimes at 2-3 years of age
          • deep voice
          • early, excessive hair growth
          • early development of male secondary sexual characteristics including
            • enlarged penis
            • small testes
            • muscular development
    • Physical exam
      • in females
        • usually normal reproductive organs (i.e. uterus, ovaries, fallopian tubes)
        • hirsuit (male distribution)
        • signs of hypoglycemia
        • renal dysfunction secondary to hypocortisolism and hypoaldosteronism
          • salt loss
          • volume depletion
      • in males, as above
      • in both
        • above average growth as child
        • final height usually smaller than normal adult
      • adrenal crisis
        • may develop in some newborns due to salt loss and can result in
          • dehydration
          • electrolyte changes
          • cardiac arrhythmia
          • vomiting
  • IMAGING
    • X-ray
      • may demonstrate "older bone age" than true age
  • STUDIES
    • Labs
      • decreased cortisol and aldosterone
      • increased 17-OH progesterone
      • increased serum DHEA sulfate
      • increased 17-ketosteroids
    • Urinary 17-hydroxycorticosteroids
      • normal or decreased
      • in contrast to 11-Hydroxylase Deficiency
    • Chemistry
      • electrolyte abnormalities may be evident at infancy
    • EKG
      • may show cardiac arrhythimia(s) secondary to renal dysfunction
    • Genetic testing
      • may diagnose or confirm suspected diagnosis
      • may determine genotypic gender of child to guide treatment
  • Differential
    • 11-Hydroxylase deficiency, 17-hydroxylase deficiency
  • Treatment
    • Prevention
      • genetic counseling may help parents with family history of disorder
      • there is no preventive measure available at this time
    • Medical management
      • control cortisol levels
        • goal is to achieve normal cortisol levels
        • dexamethasone, fludrocortisone, or hydrocortisone may be indicated
      • determine gender
        • checking karyotype can accomplish this task
    • Surgical management
      • gender assignment surgery
        • based on karyotypic findings
        • females usually undergo surgery 1-3 months of age to remove male anatomy
  • Complications
    • Shortened adult height, ambiguous genitalia, hypertension, hypoglycemia, smaller vaginal introitus, death via adrenal crisis if untreated, steroid side effects, patients medicated for life, male testicular tumors
  • Prognosis
    • Good to very good in most individuals
    • If untreated, adrenal crisis can lead to death within 1-6 weeks
    • Males usually have normal fertility; females may be abnormal fertility

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(M2.PD.15.183) A 3-day-old girl is brought to the general pediatrics clinic by her mother. She was the product of an uncomplicated, full-term, standard vaginal delivery after an uncomplicated pregnancy in which the mother received regular prenatal care. This morning, after changing the child's diaper, the mother noticed that the newborn had a whitish, non-purulent vaginal discharge. The mother has no other complaints, and the infant is eating and voiding appropriately. Vital signs are stable. Physical exam reveals moderate mammary enlargement and confirms the vaginal discharge. The remainder of the exam is unremarkable. What is the next step in management?

QID: 105581

Order a karyotype

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(0/28)

Begin a workup for 17 alpha-hydroxylase deficiency

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Begin a workup for 21-hydroxylase deficiency

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(1/28)

Begin a workup for 11 beta-hydroxylase deficiency

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(1/28)

No tests are needed

89%

(25/28)

M 7 E

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