Pediatric Gynecology/

REI
Prolog Questions
Prepared by: Mindy Christianson
Carey Eppes
Cara Grimes
 Straddle Injury
 A 7yo girl presents to ED w/ perineal injury that is
actively bleeding. You are told she fell on the crossbar
of her brother’s bike. History obtained from pt and her
mother is inconsistent. PE shows no bruises over the
skin and external genitalia w/ defect involving the
fourchette and extending to perirectal area. Anal orifice
is intact. What is the best next step?
 A) Observation in the ED
 B) Laparoscopy
 D) Pelvic sonogram
 C) Exam under anesthesia
Gyn Prolog Question 20
 Straddle Injury
 A 7yo girl presents to ED w/ perineal injury that is
actively bleeding. You are told she fell on the crossbar
of her brother’s bike. History obtained from pt and her
mother is inconsistent. PE shows no bruises over the
skin and external genitalia w/ defect involving the
fourchette and extending to perirectal area. Anal orifice
is intact. What is the best next step?
 A) Observation in the ED
 B) Laparoscopy
 D) Pelvic sonogram
 C) Exam under anesthesia
Gyn Prolog Question 20
 Straddle Injury
 Answer: Exam under anesthesia
 EUA is best choice b/c she is actively bleeding and
EUA will allow assessment of lacerations that may need
repair
 Straddle injuries can result in vulvar hematomas that
can impair voiding due to urethral spasm. Must ensure
she can void or will need foley.
 Treatment of vulvar hematoma: pyridium for dysuria,
sitz bathes. Large hematomas may need I&D. If pain
persists  evaluate for pelvic fracture.
 Straddle Injury
 Posterior vaginal tears suspicious for sexual
abuse and penile penetration will cause hymenal
tears between 4 and 8 o’clock
 Child protective services must be notified if any
suspicion of abuse arises. Exam must be
properly documented.
 Vulvar disease
 In a pediatric patient, for which of the following
conditions would you prescribe clobetosol
proprionate and inquire about the possibility of
sexual abuse?
 A) Vulvar adhesions
 B) Lichen sclerosus
 D) Embryonal rhabdomyosarcoma
 C) Mullerian agenesis
Gyn Prolog Question 24
 Vulvar disease
 In a pediatric patient, for which of the following
conditions would you prescribe clobetosol
proprionate and inquire about the possibility of
sexual abuse?
 A) Vulvar adhesions
 B) Lichen sclerosus
 D) Embryonal rhabdomyosarcoma
 C) Mullerian agenesis
Gyn Prolog Question 24
 Lichen sclerosus
 Answer: Lichen sclerosus
 Lichen sclerosus is an inflammatory skin condition in adults and
children that can cause itching and soreness. 4-5% of adult cases
have an associated squamous cell carcinoma.
 PE shows ivory-colored papules, plaques, fissuring, erosions and
hyperkeratosis.
 Path: hypotrophic dystrophy and flattening of rete pegs in the
subdermal layer, hyalinization and keratinization.
 Tx: 1-2% hydrocortisone cream. If this fails, clobetesol
propionate bid followed by taper. Surgery indicated only if
clitoris is buried, labia are fused or introitus stenosed.
 Koebner’s phenomena: when genital trauma (such as from
abuse) induces lichen sclerosus secondary to friction and scarring
 Labial Adhesions
 Thought to result from local irritation and scratching
 PE shows a thin avascular line of fusion in the midline
 Usually asymptomatic but can impair
urination/menstruation
 Tx: estrogen cream, zinc oxide or weak corticosteroid
for 10-14 days. If this fails, can use a lubricated swab
or sound to break down the membrane
Embryonal carcinoma of the vagina
(Sarcoma botryoides)
 Very rare tumor, but specific to children
 Usually originates from cervix or upper vagina,
arising from undifferentiated mesenchymal
tissue
 PE: tumors have a grapelike appearance
 Spread rapidly, extending through subvaginal
tissues
 Tx: chemo followed by surgery or irradiation
 Survival rate as high as 90%
 Mullerian Agenesis
 aka Mayer-Rokitansky-Kuster-Hauser syndrome
 Failure of the upper vagina and uterus to form
 PE: blind vagina
 Tx: Progessive dilatation or surgical
vaginoplasty
 All patients with mullerian anomalies should be
assessed for renal anomalies as well
 A sexually active 15 yo female c/o significant lower
abdominal pain w/ menses, L>R. Menarche age 14.5,
thelarche 16.5, growth curves WNL. PE sig for LLQ
tenderness, no RB, guarding. Pelvic exam showed 1
cervix and L adnexal tenderness. Recent tests for STDs
neg. What is most appropriate next step in
management?
 A) Abdominal radiography
 B) Pelvic sonogram
 C) Expectant management
 D) MRI
Gyn Prolog Question 34
 A sexually active 15 yo female c/o significant lower
abdominal pain w/ menses, L>R. Menarche age 14.5,
thelarche 16.5, growth curves WNL. PE sig for LLQ
tenderness, no RB, guarding. Pelvic exam showed 1
cervix and L adnexal tenderness. Recent tests for STDs
neg. What is most appropriate next step in
management?
 A) Abdominal radiography
 B) Pelvic sonogram
 C) Expectant management
 D) MRI
Gyn Prolog Question 34
 Mullerian Anomalies
 Answer: Pelvic Sonogram
 Pelvic sonogram can better define pelvic organs,
including identification of a Mullerian anomaly,
which should be considered in absence of STD,
PID or pregnancy
 The pt in this case actually had symptoms due to
a didelphic uterus
 Mullerian Tract Development
 6 wks gestation – Mullerian tracts identified
 9 wks gestation – elongation occurs to the level
of the UG sinus at Muller’s tubercle
 Uterovaginal canal then forms and inserts into
UG sinus at Muller’s tubercle
 Fusion of the ducts occurs from caudal to
cephalic
 20 wks gestation – by this time canalization and
resorption has occurred
 Mullerian Anomalies
 Imperforate hymen: due to incomplete
canalization of the urogenital sinus. Incidence
0.1%. Pts present w/ amenorrhea, cyclical
pelvic pain and bluish hue to hymen. Valsalva
will produce a bulge.
 Mullerian Anomalies
 Transverse Vaginal Septum: Present w/
amenorrhea, cyclical pelvic pain. MRI can help
differentiate from imperforate hymen. Valsalva
will not produce a bulge. Believed to be sex-
linked autosomal recessive. Associated
anomalies include coarc of aorta, ASD, L-spine
malformations.
 Mullerian Anomalies
 Longitudinal Vaginal Septum: Not always
symptomatic. Believed to be due to embryonic
arrest of mullerian and metanephric ducts at 8
wks gestation. Often associated w/ uterus
didelphys and associated renal anomaly.
 Mullerian Anomalies
 Rudimentary Horns: Non-communicating. May
be associated with pelvic pain secondary to
outflow tract obstruction when there is
functional endometrium. Require resection
when symptomatic.
 Mullerian Anomalies
 Uterus Didelphus: Vertical fusion defect. May
be associated with a hemivagina and blind
vaginal pouch. May presents with pelvic pain.
Resection of the vaginal septum relieves the
outflow tract obstruction.
Adolescent with Abdominal Pain
 A 17 yo HS senior is sent to ED by school nurse for
malaise, decreased appetite and abdominal pain.
History notable for irregular periods. She is sexually
active w/ a negative hCG. PE notable for RLQ pain
and rebound tenderness. What is the next appropriate
step?
 A) Laparoscopy
 B) CT Abd/Pelvis
 C) GI consult
 D)Administer Azithromycin/Cipro
Gyn Prolog Question 35
Adolescent with Abdominal Pain
 A 17 yo HS senior is sent to ED by school nurse for
malaise, decreased appetite and abdominal pain.
History notable for irregular periods. She is sexually
active w/ a negative hCG. PE notable for RLQ pain
and rebound tenderness. What is the next appropriate
step?
 A) Laparoscopy
 B) CT Abd/Pelvis
 C) GI consult
 D)Administer Azithromycin/Cipro
Gyn Prolog Question 35
 Adolescent with Appendicitis
 Answer: CT Abd/Pelvis
 Pt is classic presentation of appendicitis and CT is most
sensitive imaging modality
 Appendicitis parallels development of lymphoid system
and peaks in young adulthood
 Slightly more prevalent in males w/ male-to-female ratio
1.3:1
 Important signs/symptoms (although invariable):
diffuse midepigastric pain that localized to RLQ,
anorexia, obstipation, mild leukocytosis, low-grade
fever
 Ambiguous Genitalia
 While rounding, you are asked to come delivery room
to evaluate term neonate just delivered with
undetermined gender. Mother is repeatedly asking if
newborn is boy or girl and your associate wants your
opinion. What is the most important next step?
 A) Testing serum androgens
 B) Testing serum electrolytes
 C) Karyotype determination
 D) Abdominal sonogram
 E) MRI
Gyn Prolog Question 63
 Ambiguous Genitalia
 While rounding, you are asked to come delivery room
to evaluate term neonate just delivered with
undetermined gender. Mother is repeatedly asking if
newborn is boy or girl and your associate wants your
opinion. What is the most important next step?
 A) Testing serum androgens
 B) Testing serum electrolytes
 C) Karyotype determination
 D) Abdominal sonogram
 E) MRI
Gyn Prolog Question 63
 Ambiguous Genitalia
 Answer: Testing serum electrolytes
 All cases of ambiguous genitalia should be
treated as congenital adrenal hyperplasia (CAH)
until proven otherwise
 Must follow closely for salt-wasting
(hyperkalemia, hyponatremia) and signs of
adrenal insufficiency (N/V, diarrhea,
dehydration, shock)
 Ambiguous Genitalia
 Most common cause of CAH causes 21-
hydroxylase deficiency; 17-hydroxyprogesterone
levels will be elevated
 Next most common cause of CAH is 11 ß-
hydroxylase deficiency; 11-desoxycortisol levels will
be elevated
 The other choices may be useful in determining
gender (karyotype being 100% accurate) but
metabolic issues most important initially.
 Premenarchal Pelvic Mass
 You are called to ED to evaluate 10 yo premenarchal
girl w/ abdominal pain. PE limited by voluntary
guarding. Abdominal sono shows bilateral solid
adnexal masses each 10cm x 10cm in size. hCG level is
62 and LDH is 137. What is the most likely diagnosis?
 A) Endodermal sinus tumor
 B) Immature teratoma
 C) Dysgerminoma
 D) Theca-lutein cyst
 E) Mature cystic teratoma
Gyn Prolog Question 64
 Premenarchal Pelvic Mass
 You are called to ED to evaluate 10 yo premenarchal
girl w/ abdominal pain. PE limited by voluntary
guarding. Abdominal sono shows bilateral solid
adnexal masses each 10cm x 10cm in size. hCG level is
62 and LDH is 137. What is the most likely diagnosis?
 A) Endodermal sinus tumor
 B) Immature teratoma
 C) Dysgerminoma
 D) Theca-lutein cyst
 E) Mature cystic teratoma
Gyn Prolog Question 64
 Premenarchal Pelvic Mass
 Answer: Dysgerminoma
 Solid and solid/cystic adnexal tumors in children
are usually dysgerminomas or immature
teratomas
 Dysgerminomas account for 50% of all cases
 Dysgerminomas
 Consist of germ cells that have not differentiated
to form embryonic or extraembryonic structures
 Dysgerminomas are bilateral in 10-15%
 Majority of patients have Stage I disease
 hCG and LDH can be elevated
 Associated w/ gonadoblastoma in a small
percentage of pts
 Chromosomal analysis is key b/c Y
chromosome necessitates oophorectomy
 Other pelvic masses mentioned
 Endodermal sinus – AFP usually increased,
usually unilateral
 Immature teratomas – usually unilateral, hCG
not usually elevated
 Theca-lutein cysts – hCG levels will be very
high; cysts are usually multicystic and bilateral
 Mature cystic teratomas – bilateral in 10-15%,
cyst lumen contains mature elements w/
differentiation of tissues from all 3 germ layers
 Sexual Molestation
 A mother brings her 6 yo daughter to ED for white
discharge and vulvar erythema for past 2 wks. Child is
hesitant to allow her mother to touch her vulvar area.
Mother informs you that recently the child is reluctant
to go near, or be touched by, an uncle who lives w/ the
family. The physical finding most likely to be found
this child is:
 A) Posterior hymenal tear
 B) Vulvar hemangioma
 C) Urethral caruncle
 D) Lichen sclerosus
 E) Labial agglutination
 Sexual Molestation
 A mother brings her 6 yo daughter to ED for white
discharge and vulvar erythema for past 2 wks. Child is
hesitant to allow her mother to touch her vulvar area.
Mother informs you that recently the child is reluctant
to go near, or be touched by, an uncle who lives w/ the
family. The physical finding most likely to be found
this child is:
 A) Posterior hymenal tear
 B) Vulvar hemangioma
 C) Urethral caruncle
 D) Lichen sclerosus
 E) Labial agglutination
 Sexual Molestation
 Answer: Posterior hymenal tear
 In absence of obvious signs of trauma, physical
finding most likely to be found in recently
sexually abused child is a posterior hymenal tear
or hymenal transection
 A deep posterior hymenal notch or healed tear, an
increase in transhymenal diameter, or a deep notch
or concavity in the anterior half of the hymen are
other studies that increase suspicion of sexual abuse
 Acute Pelvic Pain in Young Women
 An ED physician requests consultation for a non-sexually active
14 yo young woman w/ bilateral LQ pain, R>L. Pain is
described as sharp and stabbing, radiating down the R leg. Pain
has been intermittent over the past 24 h. She has taken 800 mg
Ibuprofen w/o relief. Menarche 6 mo ago and she is currently at
the end of her menstrual period. PE remarkable for decreased
bowel sounds and tenderness w/ rebound in the LLQ.
Bimanual exam limited by patient discomfort. Beta hcg and
STD tests are negative. What is next appropriate step?
 A)Laparoscopy
 B) Spiral CT
 C) Pelvic sono
 D) MRI
 E) Laparotomy
 Acute Pelvic Pain in Young Women
 An ED physician requests consultation for a non-sexually active
14 yo young woman w/ bilateral LQ pain, R>L. Pain is
described as sharp and stabbing, radiating down the R leg. Pain
has been intermittent over the past 24 h. She has taken 800 mg
Ibuprofen w/o relief. Menarche 6 mo ago and she is currently at
the end of her menstrual period. PE remarkable for decreased
bowel sounds and tenderness w/ rebound in the LLQ.
Bimanual exam limited by patient discomfort. Beta hcg and
STD tests are negative. What is next appropriate step?
 A)Laparoscopy
 B) Spiral CT
 C) Pelvic sono
 D) MRI
 E) Laparotomy
Acute Pelvic Pain in Young Women
 Answer: Pelvic Sonogram
 9. Precocious Puberty
A 71/2 year-old African-American girl is referred for evaluation
of precocious puberty. The appearance of pubic hair was
noted at 6 years 11 months and breast budding 1 month ago.
She is otherwise is excellent health and without any additional
symptoms. Examinations reveals Tanner stage III pubic hair
and Tanner stage II breast development. Longitudinal growth
has increased from the 55th to the 60th percentile. Her growth
velocity chart demonstrates that she has moved from 4-cm to
5.5-cm growth per year. The most appropriate initial
management is
(A) observation only
(B) bone age X-ray of the hand only
(C) magnetic resonance imaging (MRI) of the head only
(D) adrenocorticotropic hormone (ACTH) challenge test
 9. Precocious Puberty
A 71/2 year-old African-American girl is referred for evaluation
of precocious puberty. The appearance of pubic hair was
noted at 6 years 11 months and breast budding 1 month ago.
She is otherwise is excellent health and without any additional
symptoms. Exminations reveals Tanner stage III pubic hair
and Tanner stage II breast development. Longitudinal growth
has increased from the 55th to the 60th percentile. Her growth
velocity chart demonstrates that she has moved from 4-cm to
5.5-cm growth per year. The most appropriate initial
management is
(A) observation only
(B) bone age X-ray of the hand only
(C) magnetic resonance imaging (MRI) of the head only
(D) adrenocorticotropic hormone (ACTH) challenge test
 Normal puberty

General order:
--Acceleration of growth velocity
--Secondary sexual characteristics (ages 9-11)
--Thelarche
--Adrenarche
--Adolescent growth spurt (growth velocity increases from 4
cm to 9cm per year)
--menstruation (mean age 12.8 years)
 Precocious Puberty

 Historical definition: sexual development

before age 8 years
 workup if:
--African Americans < age 6 (and adrenarche
often precedes thelarche)
--whites < age 7
--CNS of behavioral changes
 11. Emergency Contraception
A 29-year-old woman comes to your office with a
history of unprotected intercourse within the past 24
hours. She requests emergency contraception
therapy. The oral steroid hormone treatment that
would provide her best option for emergency
contraception is
(A) ethinyl estradiol and norgestrel
(B) mestranol
(C) desogestrel
(D) levonorgestrel
(E) norgestimate
 11. Emergency Contraception
A 29-year-old woman comes to your office with a
history of unprotected intercourse within the past 24
hours. She requests emergency contraception
therapy. The oral steroid hormone treatment that
would provide her best option for emergency
contraception is
(A) ethinyl estradiol and norgestrel
(B) mestranol
(C) desogestrel
(D) levonorgestrel
(E) norgestimate
 Emergency Contraception
2 FDA approved products:
--Preven kit (combination ethinyl estradiol and
levonorgestrel)
--Plan B: levonorgestrel .75 mg PO q 12 h x 2
doses within 72 hours of intercourse
 1. Premature ovarian failure
A 25-year-old woman received a diagnosis of premature
ovarian failure. Her karyotype is 46, XX. Which of
the following laboratory studies is most likely to be
abnormal in this patient?
(A) Fasting glucose
(B) Calcium
(C) Cortisol
(D) Thyroid-stimulating hormone (TSH)
(E) Vitamin B12
 1. Premature ovarian failure
A 25-year-old woman received a diagnosis of premature
ovarian failure. Her karyotype is 46, XX. Which of
the following laboratory studies is most likely to be
abnormal in this patient?
(A) Fasting glucose
(B) Calcium
(C) Cortisol
(D) Thyroid-stimulating hormone (TSH)
(E) Vitamin B12
 Premature ovarian failure
 loss of ovarian function before age 40
 Causes --> idiopathic, abnormal karyotype (Turners,
Fragile X), viral infections (mumps), injuries to
ovaries (radiation, chemo, surgery), and autoimmune
 think about autoimmune diseases (hypothyroidism,
diabetes, adrenal failure, hypoparathyroidism,
pernicious anemia)…think about screening for these
annually in idiopathic POF
 115. Osteoporosis

A 43-year-old nulligravid woman requests a second opinion regarding treatment for

osteoporosis. Osteoporosis has been diagnosed by dual-energy X-ray
absorptiometry (DXA), and she has begun to take alendronate at her physician’s
recommendation. She takes calcium supplements, 1,500 mg per day, with vitamin
D, 400 IU per day. She runs approximately 16 km (10 mile) per week and bikes
80.5 km (50 mile) every weekend. On physicial examination, she is 1.7 m(5 ft 8 in)
tall, she weighs 57.2 (126 lb), her blood pressure level is 96/60 mm Hg, and pulse
rate is 64 beats per minute. The remainder of her examination is unremarkable.
Laboratory studies, including TSH, estradiol, FSH and serum prolactin levels, are
normal. In addition, her electrolyte, human parathyroid hormone, serum calcium,
and 24-hour urinary free calcium levels obtained while she is off calcium
supplementation also are normal. To monitor her response to alendronate, the most
appropriate next step in her management is
(A) repeat DXA scan
(B) urinary N-telopeptide level
(C) lateral X-ray of spine
(D) urinary calcium excretion rate
(E) ultrasonagraphy of calcaneus
 115. Osteoporosis

A 43-year-old nulligravid woman requests a second opinion regarding treatment for

osteoporosis. Osteoporosis has been diagnosed by dual-energy X-ray
absorptiometry (DXA), and she has begun to take alendronate at her physician’s
recommendation. She takes calcium supplements, 1,500 mg per day, with vitamin
D, 400 IU per day. She runs approximately 16 km (10 mile) per week and bikes
80.5 km (50 mile) every weekend. On physicial examination, she is 1.7 m(5 ft 8 in)
tall, she weighs 57.2 (126 lb), her blood pressure level is 96/60 mm Hg, and pulse
rate is 64 beats per minute. The remainder of her examination is unremarkable.
Laboratory studies, including TSH, estradiol, FSH and serum prolactin levels, are
normal. In addition, her electrolyte, human parathyroid hormone, serum calcium,
and 24-hour urinary free calcium levels obtained while she is off calcium
supplementation also are normal. To monitor her response to alendronate, the most
appropriate next step in her management is
(A) repeat DXA scan
(B) urinary N-telopeptide level
(C) lateral X-ray of spine
(D) urinary calcium excretion rate
(E) ultrasonagraphy of calcaneus
 Osteoporosis

 bone resorption by osteoclasts

 bone formation by osteoblasts
 urinary N-telopeptide to follow bone degradation
(low levels indicate bone stabilization/compliance
with therapy)
 DXA scan
--T-score between –1 and –2.5  osteopenia
--T score <-2.5  osteoporosis
--treat at T score <-2, or <-1.5 with risk factors
--tx: Ca, vit D, bisphosphonate
 33. Turners treatment
A 13-year-old adolescent comes in for evaluation of “lack of
sexual development”. The patient’s medical history and
family history are unremarkable. Vital signs are normal.
Physical examination reveals a height of 142 cm (56 in),
Tanner stage I breast and pubic hair development, webbed
neck, high-arched palate, broad chest, small uterus, normal
cervix, and nonpalpable ovaries. Bone age is 11.2 years.
Laboratory analysis reveals a FSH level of 41 mIU/mL, a
luteinizing hormone level of 24 mIU/mL, estradiol level of
less than 10 pg/mL, and karyotype of 45,X. Appropriate
initial management for this patient is
(A) thyroxine
(B) calcium
(C) recombinant human growth hormone
(D) medroxyprogesterone acetate
 33. Turners treatment
A 13-year-old adolescent comes in for evaluation of “lack of
sexual development”. The patient’s medical history and
family history are unremarkable. Vital signs are normal.
Physical examination reveals a height of 142 cm (56 in),
Tanner stage I breast and pubic hair development, webbed
neck, high-arched palate, broad chest, small uterus, normal
cervix, and nonpalpable ovaries. Bone age is 11.2 years.
Laboratory analysis reveals a FSH level of 41 mIU/mL, a
luteinizing hormone level of 24 mIU/mL, estradiol level of
less than 10 pg/mL, and karyotype of 45,X. Appropriate
initial management for this patient is
(A) thyroxine
(B) calcium
(C) recombinant human growth hormone
(D) medroxyprogesterone acetate
 Turners Facts
 XO, or mosaic 45X/46XX or 46XY
 Order: IV pyelogram/renal US, echocardiogram,
hearing exam, TSH/free T4, fasting plasma
glucose
 Treat: growth hormone treatment and later with
estrogen therapy
 28. Hirsutism and Ferriman-
Gallwey
A 19-year-old Hispanic woman with a history of hepatitis comes in for
management of hirsutism present since puberty that has become
more severe despite therapy with oral contraceptives. She has
dark facial hair on the sides of her face, upper lip, and chin. She
has neither acanthosis nigricans nor clitoromegaly. Her DHEAS,
serum testosterone, and androstenedione levels are at the upper
limits of normal. TSH and prolactin concentrations are normal.
Her basal 17 -hydroxyprogesterone level is 230 ng/dL. Following
administration of corticotropin, her 17 -hydroxyprogesterone
level increases to 510 ng/dL. The next best step in management is
to continue OCs and prescribe
(A) flutamide
(B) spironolactone
(C) finasteride
(D) gonadotropin-releasing hormone (GnRH) agonist
 28. Hirsutism and Ferriman-
Gallwey
A 19-year-old Hispanic woman with a history of hepatitis comes in for
management of hirsutism present since puberty that has become
more severe despite therapy with oral contraceptives. She has
dark facial hair on the sides of her face, upper lip, and chin. She
has neither acanthosis nigricans nor clitoromegaly. Her DHEAS,
serum testosterone, and androstenedione levels are at the upper
limits of normal. TSH and prolactin concentrations are normal.
Her basal 17 -hydroxyprogesterone level is 230 ng/dL. Following
administration of corticotropin, her 17 -hydroxyprogesterone
level increases to 510 ng/dL. The next best step in management is
to continue OCs and prescribe
(A) flutamide
(B) spironolactone
(C) finasteride
(D) gonadotropin-releasing hormone (GnRH) agonist
 Hirsutism

 PCOS

 androgen-producing tumors

 Nonclassic CAH
 PCOS
 DHEAS, testosterone, and androstenedione are
within normal range/upper limit
 TREATMENT: OCPs, spironolactone, hair
removal agents
 Androgen producing tumors
 testosterone >200 ng/dL
 hilus cell tumors of ovary, adrenal tumor, etc.
 TREATMENT: surgery
 Nonclassic CAH

 17 -hydroxyprogesterone for screening and

diagnostic testing
 if random 17 -hydroxyprogesterone >200 ng/dL
(SCREENING) then do an acute adrenal stim test for
DIAGNOSTIC PURPOSES
 Acute adrenal stim test:
--give corticotropin, measure 17 -
hydroxyprogesterone in 30-60 min
--if 17 -hydroxyprogesterone > 1,000 ng/dL  CAH
 Ferriman-Gallwey
 The Ferriman-Gallwey score is a method of evaluating and
quantifying hirsutism.
 Hair growth is rated from
0 (no growth of terminal hair) to
4 (complete and heavy cover)
 in nine locations
upper lip, chin, chest, upper back, lower back, upper abdomen,
lower abdomen, the upper arms and the thighs.
 giving a maximum score of 36.
 In Caucasian women, a score of 8 or higher is regarded as
indicative of androgen excess.
 With other ethnic groups, the amount of hair expected for that
race should be considered.
 4. Bulimia
A 22-year-old woman who desires pregnancy presents with a 4-year
history of amenorrhea. She is 1.6 m (5 ft 4 in.) tall and weighs
55.3 kg (122 lb). She lost 9.1 kg (20 lb) about he time her
menses ceased. Her weight gradually increased with a total
weight gain of more than 6.8 kg (15 lb) over the next 2 years, but
menses did not resume. She admits to vomiting several times
each week. The treatment most likely to effect resumption of
menses is
(A) phenothiazine
(B) nutritional counseling
(C) selective serotonin reuptake unhibitors (SSRIs)
(D) cognitive-behavioral therapy
(E) monoamine oxidase inhibitors
 4. Bulimia
A 22-year-old woman who desires pregnancy presents with a 4-year
history of amenorrhea. She is 1.6 m (5 ft 4 in.) tall and weighs
55.3 kg (122 lb). She lost 9.1 kg (20 lb) about he time her
menses ceased. Her weight gradually increased with a total
weight gain of more than 6.8 kg (15 lb) over the next 2 years, but
menses did not resume. She admits to vomiting several times
each week. The treatment most likely to effect resumption of
menses is
(A) phenothiazine
(B) nutritional counseling
(C) selective serotonin reuptake unhibitors (SSRIs)
(D) cognitive-behavioral therapy
(E) monoamine oxidase inhibitors
 19. Cushings
The patient in the figure presents with a 6 month history of
amenorrhea, 9.1 kg (20 lb) weight gain, fatigue, and occasional
headaches. Based on this patient’s presentation, the best
screening test for her condition is

(A) 24-hour urinary free cortisol excretion test

(B) high-dose dexamethasone (8 mg) suppression test
(C) overnight dexamethasone (1 mg) suppression test
(D) plasma adrenocorticotropic hormone (ACTH)
concentration
(E) 4:00 PM serum cortisol concentration
 19. Cushings
The patient in the figure presents with a 6 month history of
amenorrhea, 9.1 kg (20 lb) weight gain, fatigue, and occasional
headaches. Based on this patient’s presentation, the best
screening test for her condition is

(A) 24-hour urinary free cortisol excretion test

(B) high-dose dexamethasone (8 mg) suppression test
(C) overnight dexamethasone (1 mg) suppression test
(D) plasma adrenocorticotropic hormone (ACTH)
concentration
(E) 4:00 PM serum cortisol concentration
 19. Cushings
 Too much cortisol
 SCREENING TEST
--low-dose dexamethasone suppression test
--1 mg dexa at 11 PM, plasma cortisol at 8 AM
--<5 µg/dL  normal
--≥10 µg/day Cushings
 DIAGNOSTIC TEST
--24-hour urinary free cortisol excretion test
--normal is <100 µg/day
250 µg/day  CUSHINGS
 Random cortisol levels
 < 5 µg/dL  adrenal insufficiency
 17  normal adrenal reserve
 5-17  do not rule out adrenal insufficiency

**NOTE: these are random levels and not for

Cushings 
 40. metabolic syndrome
A 13-year-old adolescent comes in for evaluation and treatment of
rapid weight gain and irregular menstrual cycles. She has a
family history of obesity and diabetes mellitus in her father and
endometriosis in her aunt. On physical examination, she is
morbidly obese and has evidence of acanthosis nigricans. Her
waist circumference is 90 cm, her fasting blood glucose level is
175 mg/dL, and her total cholesterol level is 300 mg/dL. The
most common pathophysiologic basis for her disorder is
(A) hyperlipidemia
(B) hypothalamic dysfunction
(C) hyperandrogenemia
(D) insulin resistance
(E) leptin gene mutation
 40. metabolic syndrome
A 13-year-old adolescent comes in for evaluation and treatment of
rapid weight gain and irregular menstrual cycles. She has a
family history of obesity and dibetes mellitus in her father and
endometriosis in her aunt. On physical examination, she is
morbidly obese and has evidence of acanthosis nigricans. Her
waist circumference is 90 cm, her fasting blood glucose level is
175 mg/dL, and her total cholesterol level is 300 mg/dL. The
most common pathophysiologic basis for her disorder is
(A) hyperlipidemia
(B) hypothalamic dysfunction
(C) hyperandrogenemia
(D) insulin resistance
(E) leptin gene mutation
 Metabolic Syndrome
 =insulin resistance syndrome = metabolic
syndrome X
 PATHOPHYSIOLOGY - acquired insulin
resistance --> a postreceptor defect causes lack
of response to insulin action leading to elevated
levels of insulin and subsequent metabolic
abnormalities
 Metabolic Syndrome
 DIAGNOSIS (3 or more criteria)
--central obesity (waist circumference >88cm)
--elevated triglyceride level
--low high-density lipoprotein (HDL)
--elevated blood pressure
--elevated fasting blood glucose level
 Metabolic Syndrome
 TREATMENT: weight loss, diabetes and
cardiac meds as appropriate
 if really high BMI  bariatric surgery
 117. Primary amenorrhea
A 16-year-old adolescent comes in for evaluation of primary amenorrhea and lack
of breast development. She denies being sexually active and has no history
of vaginal bleeding. Her height is 134.6 cm (53 in.). She has Tanner stage
1 breast development and Tanner stage 1 pubic hair. She has a normal
vaginal length, visible cervix, small palpable uterus, and no palpable
ovaries. Initial lab evaluation reveals a negative serum pregnancy test result
and normal levels of prolactin and TSH. The serum measurement that
would provide the most information to make the diagnosis is
(A) FSH
(B) estradiol
(C) testosterone
(D) DHEAS
(E) 17-hydroxyprogesterone
 117. Primary amenorrhea
A 16-year-old adolescent comes in for evaluation of primary amenorrhea and lack
of breast development. She denies being sexually active and has no history
of vaginal bleeding. Her height is 134.6 cm (53 in.). She has Tanner stage
1 breast development and Tanner stage 1 pubic hair. She has a normal
vaginal length, visible cervix, small palpable uterus, and no palpable
ovaries. Initial lab evaluation reveals a negative serum pregnancy test result
and normal levels of prolactin and TSH. The serum measurement that
would provide the most information to make the diagnosis is
(A) FSH
(B) estradiol
(C) testosterone
(D) DHEAS
(E) 17-hydroxyprogesterone
 117. Primary amenorrhea
 DEFINITIONS:
--Primary - absence of menarche by age 16
--Secondary - absence of menses for more than 3 cycles or 6 months in
women who were previously mensturation

 THINK ABOUT:
--Dysfunction oF the hypothalmus, pituitary gland, ovaries, uterus, or
vagina.

 Primary amenorrhea is often genetic or anatomic abnormality

 Primary amenorrhea
WORK-UP
 PHYSICAL EXAMINATION
 LABORATORY TESTING
 KARYOTYPE
 Primary amenorrhea
WORK-UP
 PHYSICAL EXAMINATION
--pubic hair? --> adrenals working, testosterone
receptors present
--breast? --> evidence of estrogen/working ovaries
--imperforate hymen/vaginal septum?
--no uterus? --> mullerian agenesis
-- blind vagina (palpable testes)-->androgen
insensitivity syndrome (breasts, no pubic hair)
 Primary amenorrhea
WORK-UP
 LAB TESTING
--ßHCG --> pregnant
--FSH
-->hypergonadotropic hypogonadism (ovarian failure,
minimal breast development, normal pubic hair)
-->hypogonadotropic hypogonadism (hypothalamic or
pituitary problem, CT/MRI)
--prolactin --> pituitary adenoma
--TSH --> hypothyroidism/hyperthyroidism
 Primary amenorrhea
WORK-UP
 KARYOTYPE
--45 X -->Turners
--45 X, 46 XY --> gonadal dysgenesis (46 XY=Swyer)
--20-30% gonadoblastoma, dysgerminoma rate, so
take out gonads
--46 XY --> androgen insensitivity
 103. Primary amenorrhea
A 16-year-old adolescent with no history of sexual activity is being
evaluated for primary amenorrhea. On physical examination, she
has Tanner stage IV breast development. Tanner stage II pubic
hair, a 2 cm vaginal pouch, no visible cervix, and no palpable
uterus or ovaries. Lab analysis reveals a FSH level of 8.3
mIU/mL, testosterone level of 811 ng/dL, and a 46,XY
karyotype. The next step in management for this patient is
(A) breast augmentation
(B) estrogen therapy
(C) vaginoplasty
(D) psychologic counseling
 103. Primary amenorrhea
A 16-year-old adolescent with no history of sexual activity is being
evaluated for primary amenorrhea. On physical examination, she
has Tanner stage IV breast development. Tanner stage II pubic
hair, a 2 cm vaginal pouch, no visible cervix, and no palpable
uterus or ovaries. Lab analysis reveals a FSH level of 8.3
mIU/mL, testosterone level of 811 ng/dL, and a 46,XY
karyotype. The next step in management for this patient is
(A) breast augmentation
(B) estrogen therapy
(C) vaginoplasty
(D) psychologic counseling
Complete Androgen Insensitivity
 Phenotypic female (breasts), no pubic hair, no
uterus, 46XY karyotype, serum testosterone in
male range
 Have testes
 Lack androgen tissue receptors (no pubic hair)
 Peripheral aromatization of androgens to
estrogen (breast)
Complete Androgen Insensitivity
 TREATMENT
--counseling
--gonadectomy after sexual maturation is
complete
--estrogen therapy as needed
--vaginoplasty/dilators
 111. Pituitary microadenoma
A 28-year-old woman presents with a history of infrequent
menstrual periods. Her last period was 4 months ago. Physical
examination reveals a body mass index (BMI) of 26 kg/m2 and
galactorrhea bilaterally. Lab results show a negative -hcg level,
a normal TSH level, a DHEAS level of 180 g/dL, and a fasting
prolactin level of 75 ng/mL. A repeat prolactin test confirms the
prior elevated level. A MRI study of her pituitary gland is
normal. The most appropriate next step in management is
(A) clomiphene citrate (Clomid, Serophene)
(B) dexamethasone (Decadron)
(C) weight reduction
(D) metformin (Glucophage)
(E) bromocriptine mesylate (Parlodel)
 111. Pituitary microadenoma
A 28-year-old woman presents with a history of infrequent
menstrual periods. Her last period was 4 months ago. Physical
examination reveals a body mass index (BMI) of 26 kg/m2 and
galactorrhea bilaterally. Lab results show a negative -hcg level,
a normal TSH level, a DHEAS level of 180 g/dL, and a fasting
prolactin level of 75 ng/mL. A repeat prolactin test confirms the
prior elevated level. A MRI study of her pituitary gland is
normal. The most appropriate next step in management is
(A) clomiphene citrate (Clomid, Serophene)
(B) dexamethasone (Decadron)
(C) weight reduction
(D) metformin (Glucophage)
(E) bromocriptine mesylate (Parlodel)
 111
A 28-year-old woman presents with a history of infrequent
menstrual periods. Her last period was 4 months ago. Physical
examination reveals a body mass index (BMI) of 26 kg/m2 and
galactorrhea bilaterally. Lab results show a negative -hcg level,
a normal TSH level, a DHEAS level of 180 g/dL, and a fasting
prolactin level of 75 ng/mL. A repeat prolactin test confirms the
prior elevated level. A MRI study of her pituitary gland is
normal. The most appropriate next step in management is
(A) clomiphene citrate (Clomid, Serophene)
(B) dexamethasone (Decadron)
(C) weight reduction
(D) metformin (Glucophage)
(E) bromocriptine mesylate (Parlodel)