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General Medicine

Congenital Adrenal Hyperplasia

Robert Baldor, md Reviewed 04/2024
 


BASICS

Congenital adrenal hyperplasia (CAH) is an autosomal recessive condition caused by an enzyme deficiency leading to underproduction of cortisol and/or other adrenal hormones and therefore adrena...

DIAGNOSIS

Consider diagnosis of CAH in children with ambiguous genitalia, unexplained vomiting and poor weight gain in an infant, an infant with hyponatremia with hyperkalemia and metabolic acidosis, ...

TREATMENT

Hormone replacement is the mainstay of treatment, with goal of providing adequate cortisol and aldosterone replacement but not so much to increase risk for Cushingoid adverse effects and hyp...

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

A multidisciplinary approach will best serve the patient with CAH, often including a primary care provider, pediatric endocrinologist, pediatric urologist, clinic...

REFERENCES

1
Al-Agha  AE, Ocheltree  AH, Al-Tamimi  MD. Association between genotype, clinical presentation, and severity of congenital adrenal hyperplasia: a review. Turk J Ped...

ADDITIONAL READING

CODES

ICD10

E25.0 Congenital adrenogenital disorders assoc w enzyme deficiency 

SNOMED

  • 237751000 Congenital adrenal hyperplasia (disorder)

  • 52604008 steroid 21-monooxygenase deficiency, simple virilizing t...

CLINICAL PEARLS

  • CAH is an autosomal recessive disorder most often caused by deficiency of 21-hydroxylase.

  • Newborn screening checks for 17 hydroxyprogesterone elevations, and with early diagnosis, can d...

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FIG. 7.4. Congenital adrenal hyperplasia in three newborns, all with 21-hydroxylase deficiency. The female newborns depicted in A and B have different degrees of ambiguity of the external genitalia. A: Clitoromegaly with labial enlargement. B: Severe clitoral hypertrophy and nearly complete labial fusion. Note the scrotal appearance of the labia. C: Male infant with precocious development of the external genitalia and rapid somatic growth. (From Becker KL, Bilezikian JP, Brenner WJ, et al. ...

 

FIG. 7.4. Congenital adrenal hyperplasia in three newborns, all with 21-hydroxylase deficiency. The female newborns depicted in A and B ha...

FIG. 7.4. Congenital adrenal hyperplasia in three newborns, all with 21-hydroxylase deficiency. The female newborns depicted in A and B have different degrees of ambiguity of the external genitalia. A: Clitoromegaly with labial enlargement. B: Severe clitoral hypertrophy and nearly complete labial fusion. Note the scrotal appearance of the labia. C: Male infant with precocious development of the external genitalia and rapid somatic growth. (From Becker KL, Bilezikian JP, Brenner WJ, et al. ...

 

FIG. 7.4. Congenital adrenal hyperplasia in three newborns, all with 21-hydroxylase deficiency. The female newborns depicted in A and B ha...

FIG. 7.4. Congenital adrenal hyperplasia in three newborns, all with 21-hydroxylase deficiency. The female newborns depicted in A and B have different degrees of ambiguity of the external genitalia. A: Clitoromegaly with labial enlargement. B: Severe clitoral hypertrophy and nearly complete labial fusion. Note the scrotal appearance of the labia. C: Male infant with precocious development of the external genitalia and rapid somatic growth. (From Becker KL, Bilezikian JP, Brenner WJ, et al. ...

 

FIG. 7.4. Congenital adrenal hyperplasia in three newborns, all with 21-hydroxylase deficiency. The female newborns depicted in A and B ha...

<bold>Figure 35.4.</bold> Medical treatment of congenital adrenal hyperplasia. (<bold>A</bold>) Untreated 16-year-old with characteristic short stature, short arms and legs, absence of breast development, and growth of hair on body and face. (<bold>B</bold>) Same patient after 3 months of cortisone therapy. Note alteration of body habitus to a more feminine configuration and reduction of hirsutism.

 

<bold>Figure 35.4.</bold> Medical treatment of congenital adrenal hyperplasia. (<bold>A</bold>) Untreated 16-year-...

<bold>Figure 35.4.</bold> Medical treatment of congenital adrenal hyperplasia. (<bold>A</bold>) Untreated 16-year-old with characteristic short stature, short arms and legs, absence of breast development, and growth of hair on body and face. (<bold>B</bold>) Same patient after 3 months of cortisone therapy. Note alteration of body habitus to a more feminine configuration and reduction of hirsutism.

 

<bold>Figure 35.4.</bold> Medical treatment of congenital adrenal hyperplasia. (<bold>A</bold>) Untreated 16-year-o...

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