Gynecology [PRIMARY AMENORRHEA]

Introduction Visual U/S

For a girl who’s never had a period both her anatomy and the Axis Anatomy
axis must be investigated. The diseases can be differentiated Breast Uterus Disease Diagnosis
based on the table to the right. Remember ages 13 (2nd sex) and Imperforate Hymen Visual Inspection
15 (menarche). Anorexia/Weight Loss History
Pregnant before period UPT / B-HCG
Mullerian Agenesis Mullerian Agenesis Testosterone and
The Mullerian ducts create the tubes, uterus, and the upper Androgen Insensitivity Karyotype
third of the vagina. If they fail to form the girl will still be Cranipharyngioma ↓ FSH, ↓LH, MRI
genetically female (X,X), so will have normal primary and Kallman’s Anosmia, FSH/LH
normal secondary sex characteristics (the ovaries are working Turner’s ↑FSH, ↑LH, (X,O)
great), but she’ll have no uterus. She can never have children Enzymatic deficiency N/A
and will never bleed. To increase satisfaction with sex elevate the beyond our scope
vagina to increase the length. This is considered a Breast
Uterus disease. This is differentiated from testicular
feminization based on the karyotype (X,X) and testosterone (X,O), Turner
level (normal). (X,X) Ovaries E+P Breasts

Androgen Insensitivity / Testicular Feminization

A male genotype expresses mullerian inhibitory factor as well
(X,Y) Mullerian Vulva/Vagina/Clitoris
as testosterone. In this disease testosterone is made fine, but
MIF Ducts
there’s an insensitvity to testosterone by the body. Thus, despite
Mullerian MIF = Ø Uterus,
having testes, the primary and secondary sex characteristics
are as if there was no testosterone - she appears totally female. Agenesis Tubes, Vagina
MIF works perfectly and inhibits the mullerian ducts (see above).
Uterus (X,Y) Testes Testosterone = Penis, Scrotum
She’ll never have children or ever bleed. It’s imperative to
elevate the vagina in this patient as we did in mullerian agenesis. Testicular Feminization
There’s also the issue of the testes – perform an orchiectomy to Testes = No Ovaries
prevent testicular cancer. Do this after age 20 (i.e. after puberty)
to allow her to develop normally. This is considered a Breast
Uterus disease. This is differentiated from Mullerian Agenesis
by the karyotype (XY) and testosterone level (elevated).
Normal Axis Kallman Turner
Turner Syndrome
A genetic abnormality (X,O) that causes the production of streak Hypothalamus Hypothalamus Hypothalamus
ovaries. Patients are female with intact primary sex
characteristics and mullerian structures ( uterus). But, in the GnRH ? ? GnRH
E+P ?
absence of estrogen she’ll never develop secondary sex Ant Pit Ant Pit Ant Pit
characteristics. She’ll also have a broad, shield-shaped chest
FSH LH ↓↓↓FSH LH ↑↑↑FSH LH
with wide spaced nipples and a webbed neck. Lacking both
Estrogen and Progesterone, treat by giving them what they don’t Ovary Ovary Ovary
have (estrogen and progesterone) to induce puberty. Also E+P ? ?
investigate for cardiac abnormalities with an Echo (coarctation of
bicuspid aorta). In this disease, the FSH and LH will be high as Endometrium Endometrium Endometrium
the normal pituitary tries to drive the production of estrogen and
progesterone. Karyotype confirms. 1. Kallman: Absent hypothalamus can’t drive any endocrine
function, so FSH and LH are low
Craniopharyngioma and Kallman Syndrome 2. Craniopharyngioma: “No” anterior pit so FSH and LH are low.
In both conditions the axis is broken. The anatomy is fine and 3. Turner: Absent ovaries can’t make E+P, so no signal to turn off
intact (she’s female on the outside as well as inside), but the FSH and LH is present
absence of endocrine effects leaves the girl without secondary

sex characteristics. Kallman syndrome is a defunct All girls should develop menarche by age 15
hypothalamus (so low FSH and LH) associated with anosmia and
All girls should develop secondary sex char by age 13
primary amenorrhea. Craniopharyngioma and other anterior
Girls who have not met age get reassurance
pituitary tumors turn off the FSH and LH production. There is no
Girls who have not met milestones by age get worked up
anosmia, and an MRI will separate the diseases.

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