Endocrinopathy

Timing of onset/diagnosis

Expected results of investigations

PCOS

Ages 15-25 (peripubertal onset)

Rotterdam criteria (2+ of 3 needed):

– Clinical or biochemical hyperandrogenism

– Irregular menstrual cycles (oligomenorrhea/amenorrhea/anovulation)

– Polycystic ovaries (transvaginal/pelvic US)

and excluded other causes

Idiopathic hirsutism

Ages 15-25 (peripubertal onset)

Normal androgen levels, diagnosis of exclusion

 NCCAH

Adolescence/peripubertal onset or early adulthood (more common in certain ethnic groups)

– Morning serum 17-OHP >200 ng/d (>6 nmol/L)

– Serum 17-OHP >1500 ng/dL (43 nmol/L) following a 250-microg ACTH stimulation test

Classic 21-hydroxylase deficiency

Congenital

Very high neonatal 17-OHP (3500-5000 ng/dL [105-150 nmol/L]) on a heel-stick blood spot

Ovarian hyperthecosis

Onset in the third decade or later (usually postmenopausal)

– Very high testosterone levels (>5.2 nmol/L [>150 ng/dL])

– Suppression of testosterone after gonadotropin-releasing hormone stimulation test

– Diagnosis may be supported radiographically +/- histologic assessment of ovaries

Drugs

Not applicable

Not applicable

Severe insulin resistance syndromes

Adolescence or adulthood

– Fasting serum insulin >150 pmol/L (21.6 microU/mL) and/or a peak insulin >1500 pmol/L (216 microU/mL) during OGTT

– Significantly elevated serum testosterone leves (>5.2 nmol/L [>150ng/dL])

Androgen-secreting ovarian tumors

Onset in the third decade or later (usually postmenopausal)

– Very high testosterone levels (>5.2 nmol/L [>150 ng/dL])

– Unlikely to see suppression of testosterone after gonadotropin-releasing hormone stimulation test

– May be visible on ovarian imaging (US/MRI)

Androgen-secreting adrenal tumors

Variable, but adrenal cancer peaks <5 years of age and in the fourth and fifth decades of life

– Very high DHEAS levels (>700 microg/dL [18.9 micromol/L])

– Usually visible on non–contrast enhanced adrenal CT

Cushing syndrome

Variable, depending on cause

– Morning cortisol >1.8 microg/dL (50 nmol/L) after a 1-mg dexamethasone suppression test

– High 24-h urine free cortisol or late-night salivary cortisol

Acromegaly

Variable, but usually 40-45 years of age

– Elevated serum insulin growth-like factor 1

– Growth hormone concentration >1 ng/mL 2 h after a 75-mg OGTT

Gestational hyperandrogenism

During pregnancy

Elevated testosterone and/or DHEAS beyond normal range for pregnancy