Clinical assessments used to monitor and adjust therapy in infants and children with classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD)

Laboratory findings	Clinical findings	Radiographic findings	Interpretation of findings
Glucocorticoid therapy (hydrocortisone)
17-OHP below or in the normative range for age^* Androstenedione below the normative range for age	Growth velocity below expected^¶ Excessive weight gain Striae Other features of glucocorticoid excess (ie, Cushing syndrome)^Δ	Delayed bone age	Suggests excessive glucocorticoid dose
17-OHP above the normative range for age^* Androstenedione above the normative range for age	Growth velocity above expected^¶ Signs of androgen excess^◊ Precocious puberty^§ Hyperpigmentation	Advanced bone age	Suggests inadequate glucocorticoid dose
Mineralocorticoid therapy (fludrocortisone)
PRA below the normative range for age	Elevated blood pressure or hypertension Signs of fluid overload (eg, edema)	Not applicable	Suggests excessive mineralocorticoid dose
PRA above the normative range for age Hyperkalemia with or without hyponatremia Metabolic acidosis	Signs of dehydration/hypovolemia^¥ Salt-craving Failure to thrive in infancy	Not applicable	Suggests inadequate mineralocorticoid dose

17-OHP: 17-hydroxyprogesterone; PRA: plasma renin activity.

* 17-OHP should be measured in the early morning prior to administration of glucocorticoid medication.

¶ Expected growth velocity is determined by genetic height potential (midparental height), age, and pubertal stage. Refer to relevant UpToDate content on measurement of growth in children for additional information.

Δ Additional signs and symptoms of glucocorticoid excess (Cushing syndrome) include round face (usually notable when comparing photos), violaceous striae, muscle weakness, and mood lability.

◊ Signs of androgen excess include early pubic and axillary hair, hirsutism and/or amenorrhea in adolescent females, genital enlargement in males, clitoromegaly in females, and increased muscular habitus.

§ Defined as onset of puberty before age 8 years in assigned females and age 9 years in assigned males.

¥ Signs of dehydration and hypovolemia include dry mucous membranes, hypotension, and tachycardia.

Graphic 148511 Version 1.0

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Clinical assessments used to monitor and adjust therapy in infants and children with classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD)