Primary Amenorrhea Differential Diagnosis*
> 15 years no menarche and present 2° sexual characteristics
OR
> 13 years no menarche and absent 2° sexual characteristics
History and Examination
B-HCG, TSH and PRL
HCG T
TSH 1 or t
All normal
Evaluate for
Thyroid disorders
Breast Tanner Staging
Poor breast development
Good breast development
Estrogen is present
The ovaries are present and functioning (exclude AIS)
Pelvic US
Investigation
Result
• Diagnosis
• Category
C Est. Prevalence
DDx
Pregnancy
Tumor
Estrogen is absent or non-functioning
FSH, LH
Check if the problem is with the ovaries or elsewhere in the axis
FSH, LH T
FSH, LH D
† Hypergonadotropic
‡ Hypogonadism
The ovaries are failing to secrete estrogen and causing the problem
† Hypogonadotropic
+ Hypogonadism
The pituitary gland or somewhere up the axis are causing the problem
DDx
Turner Syndrome
DDx
Delayed puberty
Premature
Ovarian Failure
HPA axis dysfunction
Kallman Syndrome
Designed by Khudhur M.
Est.
14%
Est.
14%
Uterus absent -
Karyotype
46.XX
46,XY
Probable Dx
Probable Dx
Mullerian agenesis
Androgen insensitivity S.
Estrogen level is normal in these patients. also named
MRKH Syndrome.
High levels of testosterone are aromatized to estrogen
Uterus present +
Outflow tract
Obstructed
Intact +
DDx
Imperforate Hyman
Evaluate for 2°
Amenorrhea
Transverse Vaginal
Septum
Est.
3%

Primary Amenorrhea: differential diagnosis