Version May 2024
| Key laboratory findings | Comments | ||
| Premature adrenarche | DHEAS 40 to 115 mcg/dL (1.1 to 3.1 micromol/L) 17OHP normal (<115 ng/dL) or mildly elevated | Most common cause of premature pubarche. | |
| Idiopathic premature pubarche | DHEAS <40 mcg/dL (1.1 micromol/L) | Skeletal growth, bone age, and hormone concentrations are normal for preschool-aged children. | |
| Hypertrichosis | Normal androgen (C19 steroid hormone) levels | Excessive fine (vellus) body hair in both sexual and nonsexual areas (not true pubarche). | |
| Gene(s) involved | Key laboratory findings | Comments | |
| Virilizing CAHs | |||
| 21-hydroxylase deficiency | CYP21A2 | 17OHP (8 AM) usually markedly elevated (>200 ng/dL [6 nmol/L]) | Most common type of CAH; has classic (severe) or nonclassic (mild) forms. The nonclassic form often presents as premature pubarche. |
| 3-beta-hydroxysteroid dehydrogenase type 2 deficiency | HSD3B2 | Intermediate elevations of 17-hydroxypregenolone Elevated DHEA | Uncommon type of CAH that may present with premature pubarche. |
| 11-beta-hydroxylase deficiency | CYP11B1 | Elevated 11-deoxycortisol concentrations 17OHP concentrations may also be slightly elevated | Uncommon type of CAH that may present with premature pubarche. |
| Disorders affecting cortisol and DHEAS secretion | |||
| Apparent cortisone reductase deficiency | H6PD | Reduced ratio of cortisol to cortisone urinary metabolites | |
| Cortisone reductase deficiency | HSD11B1 | Reduced ratio of cortisol to cortisone urinary metabolites | |
| Apparent DHEA sulfotransferase deficiency | PAPSS2 | Low DHEAS Elevated DHEA and other unconjugated C19 adrenal steroids | Associated with spondyloepimetaphyseal dysplasia. |
| Familial glucocorticoid resistance | NR3C1 | Elevated urinary free cortisol | Lack Cushingoid features despite high cortisol. |
| Cushing syndrome | Elevated late-night salivary cortisol Failure to suppress cortisol and ACTH during an overnight dexamethasone suppression test | Cushing syndrome has many causes, including pituitary hypersecretion of ACTH (also known as Cushing disease) or exogenous glucocorticoid administration. Refer to UpToDate content on Cushing syndrome. | |
| Androgen-secreting tumors | |||
| Adrenocortical adenomas or adrenocortical carcinomas | Multiple genes | DHEAS is typically extremely elevated | Virilization, accelerated skeletal maturation, rapid pubertal progression. Some patients have Cushingoid features or hypertension. |
| Ovarian androgen-secreting tumors | Low LH Elevated testosterone DHEAS elevation unusual | Virilization, accelerated skeletal maturation. | |
| Testicular androgen-secreting tumors | Low LH Elevated testosterone DHEAS elevation unusual | Virilization, skeletal maturation, testicular and penile enlargement. | |
| Beta-hCG-secreting tumors (liver, brain, or testicles) | Low LH Elevated hCG and, in males, testosterone | Virilization, skeletal maturation. Boys have testicular and penile enlargement. | |
| Central (GnRH-dependent) precocious puberty | Elevated LH and estradiol/testosterone | Usually presents with breast development in girls or testicular enlargement in boys, which typically precede pubarche. Bone age is advanced. | |
| GnRH-independent precocious puberty | |||
| Familial male-limited precocious puberty | LHR | Normal male pubertal sex hormone pattern | Testicular and penile enlargement. Constitutional activation of the LH receptor gene. |
| McCune-Albright syndrome | GNAS | Elevated estradiol or testosterone; suppressed LH and FSH | Café-au-lait skin pigmentation, fibrous dysplasia, macroorchidism. |
| Portosystemic shunting | Low DHEAS Increased testosterone and androstenedione | ||
| Exogenous androgen exposure | Low LH and DHEAS Anabolic steroid detection requires specific LCMSMS methodology | Caused by exogenous exposure to androgens, eg, from an androgen-containing cream or anabolic body-building supplement used by adult caregivers and transferred to the child by skin-to-skin contact. | |
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