CASE 03: PRIMARY AMENORRHEA/ CONGENITAL ANOMALIES

AMMENORHEA is the absence of menstruation. The 3 kinds PRIMARY AMENORRHEA

are:
2 GENERAL CAUSES:
1. PRIMARY 1. Congenital Anomalies of the Reproductive System
 Absence of MENARCHE (Never had menses in all her life) May be in the form of:
 Absence of menses by age 14 years with the absence of  Outflow Obstruction
growth or development of secondary sexual o Imperforate hymen
characteristics o Transverse Vaginal Septum
 Absence of menses by age 16 years with normal
development of secondary sexual characteristics.

2. SECONDARY
 Absence of menstruation who used to menstruate in the
past
 Cessation of menstruation for at least 6 months or for at
least 3 of the previous 3 cycle intervals.
 For women with IRREGULAR cycle – wait for 6 months
st
 Most common cause & 1 thing to r/o: PREGNANCY
The progression of the blockage could eventually lead to
3. PHYSIOLOGIC collection of blood in each part called:
 Normal causes
 Normally not included in the general classification
 Stages:
o Pre-Pubertal
1ST HEMATOCOLPOS: Distensible vagina
o During Pregnancy/ _________
2ND HEMATOMETRA: Uterus
o Post-menopausal 3rd HEMATOSALPINX: Fallopian Tube
4TH HEMOPERITONEUM: Peritoneal cavity
TERMS: 5th ENDOMETRIOSIS: Outside fimbriae
 CRYPTOMENORRHEA - Hidden menstruation
 PUBARCHE – Development of pubic hair ∴ MENSTRUATION  BLOCKAGE  FILLING  PAIN
 THELARCHE – Development of breast
 PRECOCIOUS PUBERTY – Menarche BEFORE 8 years old  Absence of Uterus, Cervix & Vagina
 Absence of Ovaries
Remember the reason why have Breast Examination in GYN? o Ovaries - supply the hormones: E & P
(Case 1: History & Physical Exam) o Progesterone - stimulate endometrial lining
 In puberty, the initial change would be BREAST to become: Proliferative phase  Secretory
development. It is also the start of OVARIAN function. phase  Menstruation Phase
 The length of time to anticipate Menarche is 2 years. In
that span, breast development should be in Stage Tanner 2. Genetic Disorders
III – IV.  Absence of ovaries  Turner Syndrome, 45 XO
 Hallmark of Puberty: MENARCHE

CASE 3
16 yrs. old consulted because she never had menses. She has Breast Budding @ 10 yrs old. By 12 yrs old she started to have Cyclic
Hypogastric Discomfort, , PE: Ht- 4’10 ,Wt- 90 lbs. Breast Tanner IV; Abdomen (+) firm doughy mass @ Hypogastric area, measuring
8x6 cm. No vaginal opening, a membranous structure bulging on the vulvar introitus., Rectal exam (+) fluctuant mass on the
anterior rectal wall & the mass felt abdominally was noted to be superior to this fluctuant mass.

Pathophysiology:
Upon PE, a bulging membrane was noted at the vaginal introitus. This
would mean that there is a blockage of the outflow tract. And since the patient
has an intact endometrium, during her cycle, her uterus contracts to expel blood
with tissue debris from the sloughing of the endometrium, and this would
explain the crampy pain she is experiencing. Furthermore, since the outflow
tract is blocked, the bloody discharge during her menstruation is being filled
from the vagina (hematocolpos) to the uterus (hematometra). This would
present as an abdominal mass on the hypogastric area (Image: hematocolpos) on
palpation and as an enlarged uterus (hematometra) upon rectal examination
noted to be superior to the abdominal mass (hematocolpos) felt.
DX: In conclusion, the probable diagnosis is an IMPERFORATE HYMEN.

ANLAGE OF THE HYMEN:

Anlage: Biology - the initial clustering of embryonic cells from which a part or an organ
develops; primordium.
 Incomplete vertical fusion of Sinovaginal bulb & Mullerian Duct
 Vagina (2 Anlage):
o Upper 2/3: Mullerian Duct,
o Lower 1/3: Urogenital Sinus (+ Hymen)

TX: CRUCIATE INCISION @ 10, 2 & 6 O’ CLOCK

CONGENITAL ANOMALIES: OVARIAN AGENESIS
Crypto-amenorrhea -B+U
1. Imperforate Hymen  TURNERS: short stature, web necked, wide carrying
2. Transverse Vaginal Septum angle, flat chested
3. Vertical Septum  Genetic Make-up: 45 XO
Primary Amenorrhea  TX: Take what the ovaries supposed to produce
4. Mullerian Agenesis exogenously (hormone therapy) form of E + P hopefully to
5. Ovarian Agenesis make her regularly menstruate
 Can she pregnant? Yes, but not babies of her own
TRANSVERSE VAGINAL SEPTUM  Laboratory:
 Most common location: Junction - Upper 1/3 & Lower 2/3 o Gonadotropins: ↑FSH & LH
 COMPLETE septum: Symptomatic Hypergonadotropic
 Presentation: Hematocolpos o Endocrine assay: ↓ E + P Hypogonadism
 Not felt in the lower part of the vagina as in
Imperforate Hymen Normal: HPO axis:
 INCOMPLETE septum (partly patent) Releasing Hormones FSH, LH  E + P to affect uterus to
 Presentation: Dyspareunia (asymptomatic until menstruate,
evolved in sexual contact) However the absence of ovaries is detected by ↓ E + P that the
 TX: Excision Pituitary tries to make more, this is called Positive Feedback

VERTICAL SEPTUM Hormonal profile: HYPERGONADOTROPIC HYPOGONADISM

 Incomplete to complete septum (all the way from the
cervix down to the vulvar introitus) Image: Turner’s Syndrome
 Presentation: Dyspareunia (septum might not be not in
the middle, difficult insertion of the penis)
 Remains asymptomatic until detected by annual pelvic
exam
 TX: excision

MULLERIAN DUCT ABNORMALITIES

 Mullerian Derivatives: Uterus, Tube (which represents the
unfused portion of mullerian duct), Cervix, Upper Third of
Vagina

VAGINAL AGENESIS/ MULLERIAN AGENESIS

 Aka Mayer - Rokitansky - Kuster - Hauser Syndrome
 Sometimes with concomitant skeletal abnormality
 Characterized by congenital absence of vagina & uterus
UTERUS ANOMALIES
 Normal Uterus: Pear-shaped
In the PE of a patient with Primary Amenorrhea, there are 2
 Waistline - Isthmus dividing body & cervix
organs you have to initially evaluate which are the:
 BREAST & UTERUS
 Breasts reflects the function of the Ovaries
 These 2 organs are needed to be able to menstruate

+B–U
 Karyotype: 46 XX (Female)
 Transrectal UTZ: 100% Proof - Absence of Uterus
o Not TVS - short length of the Vagina
 Cannot bear pregnancy but can donate egg (Surrogacy)
o Phil: Assisted Reproductive Technology (ART)
 TX: Transplant uterus (but not successful)

What other system needed to be reviewed/ ancillary

procedure in patient with Mullerian Duct abnormality?
 Urinary tract system/IVP (Intravenous Pyelography) Classification:
NUMBER:
DDX: Androgen Resistance Syndrome (Androgen Insensitivity UNICORNUATE RUDIMENTARY HORN DIDELPHIC
Syndrome)
 Karyotype: 46 XY (Male)
 Externally, phenotypically female w/ normal female
external genitalia & gonads practically testicles.
 Require removal of testicles after about 18 years old SHAPE:
because these gonads maybe at risk for malignant BICORNUATE ARCUATE SEPTATE
degeneration as the patient grows.(Gonadoblastoma)
RUDIMENTARY HORN (RH)
 IF RH functioning & communicates to the other cavity , patient may be asymptomatic
 IF gets pregnant in the RH may give symptoms of an ectopic pregnancy or similar to endometriosis
 Ectopic pregnancy – catastrophic rupture seen in functional non-communicating horn
 At times the side of the RH will have absent ureter & kidney  Do IVP with Mullerian Duct abnormalities

UNICORNUATE
 Least common uterine anomaly
 One Uterus
 One Mullerian Duct did not develop

DIDELPHY’S
 Complete duplication of vagina, uterus & cervix
 Anlage – Mullerian Duct developed separately.
 Normal: Fusion of Mullerian Duct  Body of Uterus
 Presentation: Dyspareunia
 Not excessive bleeding, the endometrial surface of each endometrial cavity will not be equivalent to the normal.
 Remains asymptomatic ‘til detected by prenatal-check up
 Can she get pregnant? YES

The clinical implication of Mullerian abnormalities may have bearing on the outcome of pregnancy.

Unicornuate or Didelphy’s - may not expand as normal uterus towards the end of pregnancy, may be candidates of premature
delivery (PPP)
th
 Katz 6 : Didelphic Uteri – Do not USUALLY experience repetitive reproductive loss (p. 190)

BICORNUATE - Single-chamber vagina & cervix + completet/ partial septate uterus + 2 uterine bodies)

ARCUATE - Small septate indentation at upper end of the fundus

SEPTATE
 Uterus as single organ but has partial/complete septum
 Most common Mullerian Duct abnormality that would result to POOR PREGNANCY OUTCOMES
 Majority: Abortions in the early trimester
TX: Excision of the septum