Primary amenorrhea Flashcards
Definition for primary amenorrhea
- No menarche by 15 yo with secondary sexual characteristics
- No menarche within 5 years after breast development (if occurs before 10 yo)
- No menarche by 13 yo without secondary sexual characteristics
Causes of primary amenorrhea
Breast Development (30%)
- Mullerian agenesis 10%
- Androgen insensitivity 9% - Vaginal septum 2%
- Imperforate hymen 1%
- Constitutional delay 8%
No breast development + HIGH FSH (40%)
- 46 XO (Turner Syndrome) 20%
- 46 XX 15%
- 46 XY 5%
No breast development + LOW FSH (30%) - Constitutional Delay 10% - Prolactinomas 5% - Kallman Syndrome 2% - Other CNS 3% - Stress, weight loss, anorexia 3% - PCOS 3% - Congenital adrenal hyperplasia 3% - Other 1%
Complete Mullerian Agenesis.
- What’s wrong?
- What organs do you have and what do you not have (breast? uterus? cervix? upper 2/3 vagina?)
- What will you find on physical exam?
- What’s the karyotype?
- FSH and LH level?
- What other abnormalities do you need to watch out for?
- Mutations of Antimullerian Hormone or Antimullerian Hormone receptor
- Congenital absence of uterus, cervix, upper 2/3 of vagina
- Normal ovaries and ovarian function
- Normal thelarche and andrenarche
Physical exam:
- normal height, breast development, body hair, and external genitalia. The vagina is present and may appear as a small flush dimple, or longer, without a cervix at the vaginal apex.
- No internal midline structures
Lab: XX karyotype, normal LH and FSH
Associated anomalies (50%) – renal US, spinal X-ray or CT A/P for evaluation!
Renal (33%) – ectopic kidney, renal agenesis, horseshoe kidney
Skeletal (12%) – spinal anomalies, absent digits, webbed digits
How do you treat Mullerian agenesis?
Dilators (first-line)
- Successful in >90% patients
- Placement of progressive dilators for 10-30 minutes 1-3 times/day
- Follow-up weekly or biweekly
Surgical creation of neovagina
- Failed primary dilator therapy and/or prefers surgery after extensive counseling
- Requires ongoing postop dilation or vaginal intercourse!
What’s the McIndoe
It’s a surgical treatment for Mullerian agenesis.
- Obtain skin graft (buttock or other)
- This procedure involves the dissection of a space between the rectum and bladder, placement of a stent covered with a split-thickness skin graft into the space, and the diligent use of vaginal dilation postoperatively.
What’s the Vecchietti procedure
Small plastic sphere “olive” is sutured against the vaginal area and the suture ends are pulled into the abdomen and through the navel and attached to a traction device.
Suture is drawn tight, pulling the olive into the vagina and stretching it by ~1 cm/day.
Creation of neovagina in 7-10d
The laparoscopic Vecchietti procedure is a modification of the open technique in which a neovagina is created using an external traction device that is affixed temporarily to the abdominal wall.
What’s the Davydov procedure? What’s the Modified Davydov procedure?
Dissection of rectovesicular space, mobilization of segment of peritoneum and attachment of peritoneum to introitus. Use a purse-string stitch to form the blind end of the neovagina
Modified: Use of resected segment of ileum, cecum or sigmoid to create neovagina
Why does transverse vaginal septum happen? What’s the karyotype? What are the signs and symptoms? What will you find on physical exam? What are these patient at higher risk for? How do you evaluate it further? How do you treat it?
46 XX
Failed Mullerian duct fusion or failed canalization of vaginal plate
Cyclic pelvic pain, perirectal mass
Normal female secondary characteristics and ovarian function
Presence of hymenal ridge with obstruction more proximally
Increased risk retrograde menstruation --> endometriosis Evaluation: US, MRI Treatment: Complete surgical resection Postoperative vaginal dilation
What’s the most common obstructive lesion of female genital tract?
Imperforate Hymen
What will you find on exam for Imperforate Hymen?
How do you treat it?
Bulging, blue-domed, translucent membrane
In contrast to vaginal septum
Bulges with Valsalva
No hymenal fringe
Treatment: hymenectomy = hymenotomy
Cruciate or U-shaped incision to avoid urethra.
Redundant hymenal mucosa is excised and mucosal edges reapproximated using 3-0 or 4-0 absorbable suture in interrupted fashion
What’s wrong in Androgen Insensitivity Syndrome?
What’s the karyotype?
Physical exam findings?
What gonads do they have? When do the gonads have to be removed?
They have functioning testes located in the labia, inguinal region or intraabdominal cavity BUT due to defect in androgen-receptor, they are resistant to effects of testosterone.
Testes still produce Mullerian inhibiting substance which results in in utero regression of fetal uterus, FT, and upper 1/3 vagina. The presence of testes confers a 2-5% risk of testicular cancer after age of 25. Testes should be removed after puberty to allow breast development and growth spurt.
46 XY
X-linked recessive
Female phenotype
+ breasts
Female external genitalia w/ small vaginal dimple
No axillary or pubic hair
Compare Mullerian agenesis and androgen insensitivity in the following:
- inheritance pattern
- Karyotype
- Breast
- Axillary and pubic hair
- Uterus
- Gonad
- Testosterone
- Associated anomalies
Mullerian agenesis is sporadic inheritance, 46 XX, yes breast, yes hair, no uterus, ovaries, female level testosterone, and are associated with anomalies
AIS is x linked recessive, 46 XY, yes breast, no hair, no uterus, tests, male level testosterone, no associated anomalies.
What’s the karyotype for turner syndrome?
45 XO or mosaic
Do Turner syndrome people still menstruate? Can they get pregnant?
10% menstruate 2/2 residual follicles, rarely can get pregnant
Features of turner syndrome?
short stature, webbed neck, low hair line, shield chest, wide spaced nipples
