Diagnosis
Definition of primary amenorrhea.
Diagnosis is clinical when the patient meets the definition of primary amenorrhea.
-H&P.
-Common presentation:
-Ddx and Causes:
–Algorithm for secondary amenorrhea reviewed.
Diagnostic tests
-Pregnancy test (Beta-hCG in urine or serum). Serum LH, FSH, TSH, Prolactin, and Estradiol.
-CBC, CMP, and urinalysis to help r/o systemic disease.
–Pelvic U/S to confirm the presence if a uterus if indicated by physical findings.
-Karyotype. If short stature, lack of pubertal changes (the absence of both breast development and pubic hair), and elevated LH and FSH levels, skip pelvic U/S and instead do a karyotype to rule out Turner syndrome and the presence of Y chromosome material because these findings are consistent with primary ovarian failure and Turner syndrome.
“Primary amenorrhea is defined as a history of no menses in a female 13 years of age or older with no pubertal development, or 5 years after initial breast development, or in a patient older than 15 years. Primary amenorrhea is typically due to chromosomal problems that lead to primary ovarian insufficiency or anatomic abnormalities. If the patient has dysmorphic features such as short stature, a low hairline, or a webbed neck, the suspicion for Turner’s syndrome should be high. While FSH and LH levels may be elevated, the definitive diagnosis would be made from a karyotype.”ABFM
Hypothalamic Amenorrhea – Is ruled out by measuring LH, FSH, and Estradiol.
References
The AAFP has a great article from 2013, Amenorrhea: An Approach to Diagnosis and Management
Klein DA, Poth MA: Amenorrhea: An approach to diagnosis and management. Am Fam Physician 2013;87(11):781-788.
https://my.clevelandclinic.org/health/articles/amenorrhea
http://emedicine.medscape.com/article/252928-workup