From the Guidelines
To investigate a 12-year-old girl with Tanner stage 3 breast development, scant pubic and axillary hair, and primary amenorrhea, a comprehensive evaluation including hormonal testing, imaging studies, and genetic analysis is recommended. The initial step in the evaluation should include a thorough medical history, assessing age of menarche, regularity of menses, use of medications, presence of other health issues, and a family menstrual history, as suggested by 1.
Initial Laboratory Tests
Initial laboratory tests should include:
- Serum FSH, LH, estradiol, testosterone, DHEAS, prolactin, TSH, and free T4 to assess hormonal imbalances and potential endocrine disorders, as indicated by 1 and 1.
- A pelvic ultrasound to evaluate the presence and morphology of the uterus and ovaries, which is essential in diagnosing potential anatomical abnormalities.
Additional Tests
Additional tests may include:
- Karyotype analysis to rule out chromosomal abnormalities such as Turner syndrome or androgen insensitivity syndrome.
- A GnRH stimulation test to assess hypothalamic-pituitary function.
- An MRI of the brain to evaluate the pituitary gland if indicated by hormonal findings, as these tests can help identify specific conditions affecting the hypothalamic-pituitary-gonadal axis.
Consultation and Management
Given the complexity of this presentation, early consultation with pediatric endocrinology is recommended for specialized management, as the absence of menses by age 12 with breast development warrants investigation, though primary amenorrhea is typically not diagnosed until age 15 in patients with normal secondary sexual characteristics, as noted in the examples. The potential discordance between breast development and adrenarche could indicate several conditions, including gonadal dysgenesis, partial androgen insensitivity, or hypothalamic-pituitary dysfunction, highlighting the need for a comprehensive and multidisciplinary approach to diagnosis and treatment.
From the Research
Approach to Investigating Primary Amenorrhea
The approach to investigating primary amenorrhea in a 12-year-old girl with Tanner stage 3 breast development, scant pubic and axillary hair involves a comprehensive evaluation of the underlying causes.
- The first step is to determine if the patient has any signs of pubertal development, such as breast development and pubic hair, as seen in this case with Tanner stage 3 breast development 2.
- A thorough medical history, physical examination, and laboratory tests, including hormonal profiles and imaging studies, are essential to identify the underlying cause of primary amenorrhea 3, 2.
- The most common causes of primary amenorrhea include Mullerian anomalies, gonadal dysgenesis, hypothalamic causes, and pituitary causes 3.
- In cases where the patient has normal secondary sexual characteristics, but no menarche, the evaluation should consider the possibility of anatomical abnormalities of the reproductive tract, such as Mayer-Rokitansky-Kuster-Hauser syndrome (MRKHS) 4.
- Laboratory tests, including karyotyping and pelvic ultrasound, can help identify genetic and anatomical abnormalities that may be contributing to primary amenorrhea 5, 4.
- A careful history and physical examination can help differentiate between transient menstrual irregularity due to an immature hypothalamic-pituitary-ovarian axis and more serious endocrine and anatomic abnormalities 6.