Professional Documents
Culture Documents
Case #3
A 17 year old, single, nulligravid consulted because of absence of menses. She denies
having cyclic crampy pains. On PE, the breasts are well developed with pale areola. There is
moderate amount of axillary hair and pubic hair. Abdomen is flat, soft, no masses palpated. The
hymen is intact. On proving into the vagina, the cotton tip applicator can be inserted up to 2 cm
from the hymen. On rectal examination, there is no mass palpated.
a. It is important to ask the patient if she had began her menstrual periods. What
age? This is to determine whether the case is a primary or secondary amenorrhea.
b. If she had began her menses, ask further questions like when did her last period
start, and, if possible, the one before that? How often does she have periods (as
measured by the intervals between the first days of successive periods)? Are they
regular or irregular? How long do they last? How heavy is the flow?
c. It is also necessary to ask if the patient had recent sexual contact to check for the
possibility of a pregnancy.
d. Ask if there is any difficulty in urination to determine if there is obstruction by a
mass located proximal to the urethra and introitus.
e. Medications that decrease production of hormones that aid in ovulation might as
well be asked.
f. When primary amenorrhea is owing to pituitary-hypothalamic disorders,
additional symptoms related to its underlying cause or to the loss of specific
tropic hormones may occur. Ask for headaches, visual disturbances, polydipsia,
polyuria, easy fatigability or episodic weakness and failure of the skin to tan.
g. Ask for increases in body and facial hair to check for possible polycystic ovaries
h. Some patients present with a history of voiding difficulties, urinary incontinence,
or recurrent urinary tract infections (UTIs). Might as well ask for them for
possible Mayer-Rokitansky Syndrome.
(Primary) amenorrhea
Anatomic defects are usually diagnosed by physical exam and failure to induce
menses, though hysterosalpingography or direct visual examination by hysteroscopy
maybe required.
Hysterosalpingography is a radiographic procedure that uses contrast media to
visualize the outlines of the endometrial cavity and fallopian tubes.
Hysteroscopy, on the other hand, is a diagnostic procedure that uses a tubular
optical or video device and light source to visualize the uterine cavity, aided by fluid
distention.
However, in this case, the latter two procedures ought not be performed because
of a suspected gonadal dysgenesis, which maybe better diagnosed thru chromosomal
analysis.
Chromosomal analysis is essential to exclude karyotypic abnormalities. Basically,
chromosome analysis can be done on any tissue you can grow. The most common are
peripheral blood and bone marrow. The blood is mixed with an anticoagulant (heparin),
is incubated at body temperature, and the WBCs are grown on tissue culture until a
sufficient number for chromosome analysis is reached (3-4 days).
Of the many indications for cytogenetic analysis includes confirmation of a
suspected classical chromosomal syndrome, primary amenorrhea/secondary amenorrhea
of unknown etiology, pubertal failure in either sex and ambiguous genitalia. In general,
signs of a genetic disorder will fall under three categories: growth abnormalities,
abnormal/subnormal intelligence or physical characteristics. Based from these,
amenorrhea and the finding that the applicator tip can be inserted up to 2cm from the
hymen give good reason for performing chromosomal analysis on our patient.
Have in mind that the previous procedures were based on the algorithm of
managing a patient presenting with amenorrhea, with the students being open to the
possibility that the patient has a chromosomal problem.
Other optional imaging studies that maybe used are magnetic resonance imaging
(to clarify inconclusive sonography results, assess subperitoneal structures, visualize
cervix), laparoscopy (indirect assessment of uterine cavitation), pyelography (if there is a
need to assess renal structure) and radiography (if you suspect a concomitant vertebral
anomaly).
REFERENCES:
(1) Best Pract Res Clin Endocrinol Metab. 2006 Dec;20(4):577-98. Androgen resistance. Hughes
IA, Deeb A. Department of Paediatrics, University of Cambridge, Box 116, Level 8,
Addenbrooke's Hospital, Hills Road, Cambridge CB2 2QQ, UK. iahl000@cam.ac.uk
(2) Am Surg. 2005 Mar;71(3):241-3. Complete androgen insensitivity syndrome: the role of the
endocrine surgeon. Alvarez NR, Lee TM, Solorzano CC.
(3) Eur J Obstet Gynecol Reprod Biol. 2007 Apr;131(2):248-52. Epub 2007 Mar 12. Expert
opinion: vaginal aplasia: creation of a neovagina following the Creatsas vaginoplasty. Creatsas
G, Deligeoroglou E.
(4) Berek, J.S. Novak’s Gynecology 14th Edition. Lippincott Williams and Wilkins. Copyright
2007.
(5) Bickley, L.S. Bates’ Guide to Physical Examination and History Taking 9 th Edition.
Lippincott Williams and Wilkins. Copyright 2007.
(6) Friedman, H. H. Problem-Oriented Medical Diagnosis 7th Edition, Lippincott Williams and
Wilkins. Copyright 2001.