What laboratory tests are indicated for a female patient with delayed puberty?

From the Guidelines

For a female patient with delayed puberty, I recommend ordering a comprehensive laboratory panel including follicle-stimulating hormone (FSH), luteinizing hormone (LH), estradiol, prolactin, thyroid-stimulating hormone (TSH), free T4, complete blood count (CBC), comprehensive metabolic panel (CMP), karyotype analysis, and anti-Müllerian hormone (AMH) as the initial step in evaluation. This approach is based on the most recent and highest quality evidence available, which emphasizes the importance of a thorough laboratory evaluation to differentiate between various causes of delayed puberty, including hypogonadotropic hypogonadism, hypergonadotropic hypogonadism, and other conditions such as hypothyroidism or hyperprolactinemia 1.

Key Laboratory Tests

• FSH, LH, and estradiol to assess gonadal function and pubertal status, as indicated by accelerated pubertal progression and growth 1
• Prolactin to screen for hyperprolactinemia, which can inhibit gonadotrophin secretion and lead to delayed puberty 1
• TSH and free T4 to identify hypothyroidism, a potential cause of delayed puberty
• CBC and CMP to assess for chronic illness, malnutrition, or other systemic conditions
• Karyotype analysis to rule out Turner syndrome and other chromosomal abnormalities
• AMH to provide information about ovarian reserve

Additional Considerations

Depending on the initial findings, additional specialized tests like pelvic ultrasound, brain MRI (to evaluate the pituitary and hypothalamus), or bone age assessment may be necessary to complete the evaluation and guide appropriate treatment. It is also important to consider other potential causes of delayed puberty, such as polycystic ovary syndrome (PCOS), and to order additional tests as needed, such as a two-hour oral glucose tolerance test or fasting lipid and lipoprotein levels 1. However, the primary focus should be on the initial comprehensive laboratory panel, as it provides the most critical information for differentiating between various causes of delayed puberty and guiding further evaluation and treatment.

From the Research

Laboratory Tests for Delayed Puberty in Females

The following laboratory tests are indicated for a female patient with delayed puberty:

• Measurements of serum follicle-stimulating hormone (FSH), luteinizing hormone (LH), and estradiol 2
• Bone age radiography 2
• Thyroid function testing 2
• Assessment of serum thyroid function, prolactin, and insulin-like growth factor I if abnormal growth velocity is present 2
• Gonadotropin-releasing hormone (GnRH) stimulation test to diagnose gonadotropin deficiency 3, 4

GnRH Stimulation Test

The GnRH stimulation test has been used to diagnose delayed puberty in both males and females:

• In females, a serum basal LH <0.85 IU/L or basal FSH <2.43 IU/L resulted in moderate sensitivity and specificity in the diagnosis of hypogonadotropic hypogonadism 4
• The test is almost sufficient to discriminate between hypogonadotropic hypogonadism and constitutional delay of growth and puberty in males, but its use in females is less clear 4

Diagnostic Approach

A thoughtful evaluation, structured to the patient, is important to identify the cause of delayed puberty and prevent unnecessary investigations 5

• History and physical examination should be followed by laboratory tests to determine the underlying cause of delayed puberty 2
• Referral to a pediatric endocrinologist may be warranted after the initial evaluation 2