Primary Amenorrhea Flashcards
define primary amenorrhea
Absence of menarche by age 15
What age should you consider primary amenorrhea if pt does not have secondary sex characteristics?
Age 13
Differential diagnosis if uterus ABSENT on exam/US
Mullerian Agensis (MKRH Syndrome)
Androgen Insensitivity Syndrome
5-alpha reductase Deficiency
How is AIS inherited?
X-linked recessive
How is 5-alpha reductase deficiency inherited?
Autosomal recessive
How do you distinguish between AIS and 5 alpha reductase deficiency?
AIS has sparse axillary and pubic hair, has breasts
5ARD has normal hair growth, striking virilization at puberty with gaining muscle mass and deepening of voice. Typically NO BREASTS
Differential diagnosis for primary amenorrhea WITH uterus and HIGH FSH?
Turner Syndrome
Gonadal Dysgenesis
Primary Ovarian Insufficiency
Differential diagnosis for primary amenorrhea WITH uterus and LOW/NL FSH?
Uterine Anatomic Anomaly
Endocrine Disorder (high PRL, abnormal TSH, high T)
Functional
Congenital GnRH deficiency
When do pts w/ turner syndrome need their gonads removed?
If SRY is present
Caused gonads to become dysplastic
Uterus Present
High FSH
Karyotype 46XY
No breasts
Gonadal Dysgenesis (Swyer Syndrome)
Testes fail to develop properly → no testosterone present to drive development of male genitalia, no production of anti mullerian hormone → patients will have UTERUS and CERVIX
No breast because no testosterone is getting aromatized
Uterus Absent
Karyotype 46, XY
Sparse Pubic Hair
Breast Development
Androgen Insensitivity Syndrome
Uterus Absent Karyotype 46, XY Normal Pubic Hair No breasts Virilization at puberty
5-alpha reductase deficiency
Uterus Present
Low FSH
No anatomic abnormalities
Congenital GnRH deficiency
Uterus Present
High FSH
46, XX
Primary Ovarian Insufficiency
Uterus Present
High FSH
46, XY
Gonadal Dysgenesis
Could be 46,XO (Turner Syndrome)
