Determining the Cause

Chief Complaint: Amenorrhea

a. History: Absence of menses by age 16

b. Physical Exam:  Ambiguous genitalia and early appearance of axillary and pubic hair

Differential Diagnosis

    • Hormonal/Endocrine Disorders: Polycystic ovary syndrome (PCOS), hypothyroidism, hyperprolactinemia.
    • Structural Issues: Uterine scarring (Asherman syndrome), congenital absence of reproductive organs.
    • Lifestyle Factors: Excessive exercise, significant weight loss, eating disorders, or chronic stress.
    • Medications: Hormonal contraceptives or medications affecting dopamine or other pathways.
    • Genetic Conditions: Turner syndrome, androgen insensitivity syndrome.

 

Next Pivotal Assessment Finding

 

 

[Relevant laboratory findings include elevated urinary 17-ketosteroids, elevated serum dehydroepiandrosterone (DHEA) sulfate, and normal or decreased 17-hydroxycorticosteroids, genetic testing reveals 46,XX genotype, and CT head scan reveals no sign of tumor.]

 

 

Determining the Cause

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