From the Guidelines
For a blood workup to evaluate adrenarche in a young child, I recommend testing total testosterone, dehydroepiandrosterone sulfate, and androstenedione levels every 3-4 months, as suggested by the study on cancer screening recommendations for individuals with Li-Fraumeni syndrome 1. When evaluating adrenarche, it's essential to consider the clinical presentation and potential underlying causes.
- Key laboratory tests should include:
- Total testosterone
- Dehydroepiandrosterone sulfate (DHEA-S)
- Androstenedione These tests can help identify potential adrenal pathology, such as congenital adrenal hyperplasia or adrenal tumors, which may be contributing to the signs of adrenarche. In addition to laboratory tests, a comprehensive physical examination every 3-4 months is crucial, including:
- Blood pressure
- Anthropometric measurements plotted on a growth curve
- Signs of virilization, such as pubic hair, axillary moisture, adult body odor, androgenic hair loss, clitoromegaly, or penile growth
- Full neurologic assessment Ultrasound of the abdomen and pelvis every 3-4 months may also be necessary, especially if the physical examination or laboratory tests suggest underlying pathology 1. It's also important to note that the timing of blood sample collection is critical, with morning samples preferred, ideally collected between 7-9 AM when adrenal hormone levels are highest. A bone age assessment via wrist X-ray can provide valuable information on skeletal maturation relative to chronological age, helping to differentiate between normal premature adrenarche and pathological conditions. Overall, a comprehensive evaluation, including laboratory tests, physical examination, and imaging studies, is necessary to properly diagnose and manage adrenarche in young children, as suggested by the study on cancer screening recommendations for individuals with Li-Fraumeni syndrome 1.
From the Research
Blood Workup for Adrenarche in a Young Child
To evaluate adrenarche in a young child, the following blood tests may be considered:
- Dehydroepiandrosterone sulfate (DHEAS) levels, as it is a stable marker for adrenal androgenic activity 2, 3, 4
- Testosterone levels, as adrenarchal androgens normally contribute to the onset of sexual pubic hair (pubarche) and sebaceous and apocrine gland development 2
- Other hormone levels, such as androstenedione, may also be evaluated to rule out other conditions 5
Differential Diagnosis
Premature adrenarche is a diagnosis of exclusion, and the following conditions must be ruled out:
- Centrally mediated precocious puberty 3, 4
- Congenital adrenal hyperplasia 2, 3, 5, 4
- Exogenous androgen exposure 3, 4
- Androgen-secreting tumors 2, 3, 5, 4
Clinical Features and Associations
Premature adrenarche may be associated with:
- Early pubarche, defined as the development of pubic or axillary hair before 8 years in girls or 9 years in boys 3, 5, 4
- Rapid weight gain or obesity in childhood 3, 6, 4
- Increased risk for polycystic ovary syndrome, insulin resistance, and metabolic syndrome 2, 3, 6, 5
- Functional ovarian hyperandrogenism in adolescence 4