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Transcript of Primary Amenorrhea
What is the definition of primary amenorrhea?
Height, weight, arm span.
Assess breast development - Tanner staging
Careful genital exam: clitoral size, pubertal hair, intactness of hymen, depth of vagina, presence of cervix, uterus, ovaries. Can use pelvic US to determine presence/absence of Mullerian structures.
Skin exam: hirsuitism, acne, striae, vitiligo, increased pigmentation
Evidence of Turner syndrome? Low hair-line, web neck, shield chest, widely-spaced nipples.
There are many causes of primary amenorrhea including congenital, environmental, and health status of patient. Diagnosis can be provided by:
- thorough history
- physical exam
- hormonal levels
- karyotype analysis
It's also important to remember pregnancy can lead to primary amenorrhea.
By Ashka Atodaria, MSIV
Absence of menses at age 15 in the presence of normal growth and secondary sexual characteristics.
Absence of menses at age 13 and absence of secondary sexual characteristics
What do we want to ask?
Completed other stages of puberty? Breast development, growth spurt, axillary/pubic hair, apocrine sweat glands?
Family history? When did mom begin menses?
What is her height compared to family members?
Recent change in weight, diet/exercise or illness?
Headaches, changes in visual fiield, fatigue, polyuria/polydipsia?
This is the algorithm provided by American Academy of Family Physicians 
Beta HCG level to rule out pregnancy
This is a lack of gonadotropin pulsations leading to low LH/FSH [1, 2]
- Constitutional delay - family history? Observation.
- Eating disorders such as anorexia nervosa
- increase to a healthier weight will induce menses
- Excessive exercise - female athlete triad
- slight increase in caloric intake or decrease in exercise intensity
- Kallman's syndrome - does patient have anosmia?
- Chronic illness - DM, chronic liver disease, chronic kidney disease, immunodeficiency, IBD, thyroid disease, psychosocial factors
- Infiltrative disease or tumors of hypothalamus or pituitary - perform MRI especially if presenting with headaches, visual field defects,
Premature Ovarian Failure
Definition: ovarian failure before age 40.
Causes include: autoimmune diseases, FMR1 premutation (fragile X ), history of chemotherapy, radiation
There may still be some ovarian function where women can experience occasional menses, ovulation and 5-10% of these women can conceive and have a normal pregnancy 
Low estrogen state leads to low bone mineral density, cardiovascular disease, sexual dysfunction
Estrogen therapy unless there is an absolute contraindication. Start with very low doses without progestin to mimic pubertal maturation.
Transdermal patches are preferred as they provide continuous infusion, avoid first pass metabolism, and have been shown to have less of an increased risk of venous thromboembolism compared to oral estrogen.
10mg medroxyprogesterone for the first 12 days of each calendar month 
Gonadal dysgenesis 2/2 retained X-chromosome. Most patients have short stature and primary amenorrhea. However, presentations vary. as some women will undergo normal puberty and eventually experience secondary amenorrhea and others will achieve normal stature with no morphologic defects. These variations could be due to mosaicism as many of these patients have incomplete x-chromosome deletion. .
Turner's is associated with:
- coarctation of aorta
- renal anomalies
- cardiac anomalies
- abdominal obesity
- metabolic syndrome
- Address associations on left
- Growth hormone +/- oxandralone as soon as girl's height falls below the 5th percentile
- Begin low-dose estrogen at age 12. Increase gradually to adult dose over the next two years.
- Add progestin after 2 years of estrogen therapy or when break-through bleeding occurs. 
Androgen Insensitivity Syndrome
Phenotypically female patients that present with primary amenorrhea with scant pubic and axillary hair. Testosterone levels are in normal male range. On PE, the labia can be normal or underdeveloped and the vagina is either absent or short with a blind ending 
Testes may be located in the abdomen or inguinal canal or labia majora.
Growth pattern follows those of normal girls. While body habitus will remain phenotypically female, these women's heights tend to be closer to males.
Psychologically, these patients are more feminine .
- "Gender assignment" if ambiguous genitalia at birth
- Estrogen tx:
Gonadectomy performed post-puberty: start at time of gonadectomy (CAIS)
Gonadectomy performed pre-puberty: start at time of expected puberty
Follow same protocol as for primary ovarian failure
- Urogenital surgery - subnormal vaginal depth
Vaginoplasty if dilator therapy is not adequate
- Psychological support
Provide family with as much information as possible at time of diagnosis
Inform patient gradually when she is of appropriate age and maturity
The earlier the patient is made aware of the diagnosis, the better the outcome 
These girls present with normal secondary sexual characteristics and normal height. They will have a normal hormonal profile.
Most patients will have rudimentary mullerian bulbs without an endometrial cavity.
In 2-7% of patients, there is active endometrial tissue in these rudimentary structures and they may present with cyclic abdominal pain and discomfort.. In such cases, US and MRI will provide diagnostic support.
Mostly psychosocial support including counseling on the possibility of healthy sexual relationships
Dilator therapy and possible surgical creation if neovagina.
Offer future fertility options to patient and parents (assisted reproduction, surrogacy)
Regular pelvic exams 
Transverse Vaginal Septum
Cause: mucolpous caused by secretions stimulated by maternal estrogen.
Usually diagnosed at birth. If this is not the case, females will present at puberty as cyclic abdominal pain or pelvic pain and hematocolpus.
Tx: surgical correction which is facilitated if tissues are estrogenized. Best times to perform surgery: newborn period, pre-menarche, post-pubertal .
Cause: failure of fusion and/or canalization of urogenital sinus and mullerian ducts. Usually, the septum is in the higher portion of the vagina but can occur at any level of the vagina. Septa are ~1cm and can have fenestrations .
Symptoms: similar to imporferate hymen.
On PE, it may appear they have a short vagina with a blind pouch. US and MRI can provide info on location and thickness of septum.
Tx: excision of septum with reanastomosing of the upper and lower vaginal mucosa 
 Welt, C. K., Barbieri. R. L. (2012, Jun 22). Etiology, diagnosis, and treatment of primary amenorrhea. UpToDate. Retrieved Aug 14, 2013, from UpToDate
 Master-Hunter, T, and D. Heiman. (2006). Amenorrhea: Evaluation and Treatment. American Family Physician, 75 (8), PP 1374-1382.
 Bielak, K. M. (2012, Jun 5). Amenorrhea. Medscape. Retrieved Aug 15, 2013 from Medscape.
 Nelson, L. M., Popat. V. (2013, March 05). Clinical manifestations and evaluation of spontaneous primary ovarian insufficiency (premature ovarian failure). UpToDate. Retrieved Aug 17, 2013, from UpToDate
 Nelson, L. M., Karim. A.C.. (2013, March 05). Management of spontaneous primary ovarian insufficiency (premature ovarian failure).. UpToDate. Retrieved Aug 17, 2013, from UpToDate.
 Saenger, P. (2013, July 09). Clinical manifestations and diagnosis of Turner syndrome (gonadal dysgenesis). UpToDate. Retrieved Aug 18, 2013, from UpToDate.
 Saenger, P. (2012, October 24). Clinical manifestations and diagnosis of Turner syndrome (gonadal dysgenesis). UpToDate. Retrieved Aug 18, 2013, from UpToDate.
 Griffin, J.E., Wilson, J.D. (2013, January 23). Clinical manifestations and pathogenesis of disorders of the androgen receptor. UpToDate. Retrieved Aug 19, 2013, from UpToDate.
 Griffin, J.E., Wilson, J.D. (2013, January 25). Diagnosis and treatment of disorders of the androgen receptor. UpToDate. Retrieved Aug 19, 2013, from UpToDate.
 American College of Obstetrics and Gynecology. (2013, May Mu¼llerian Agenesis: Diagnosis, Management, and Treatment. (Opinion 562. ed.)
 Laufer, M.C. (2013, March 25). Diagnosis and management of congenital anomalies of the vagina.. UpToDate. Retrieved Aug 21, 2013, from UpToDate