Transcript Reproductive Endocrinology Tests

Reproductive
Endocrinology Tests
Basics
Male Tests
Female Tests
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Abbreviations: AHA, anterior hypothalamic
area; AR, arcuate nucleus; DMN, dorsomedial
nucleus; MB, mammillary body; ME, median
eminence; MN, medial nucleus; OC, optic
chiasm; PHN, posterior hypothalamic
nucleus; POA, preoptic area; PVN,
paraventricular nucleus; SCN,
suprachiasmatic nucleus; SO, supraoptic
nucleus; VMN, ventromedial nucleus.
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 HYPOTHALAMICPITUITARY-GONADAL- AXIS
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Semen Analysis
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the volume of semen- 2-6 milliliters
the semen consistency (thickness),
sperm concentration- 40 million spermatozoa per ejaculate
total number of sperm,
sperm motility More than 60% of the sperm show normal forward movement
the number of normal and not normal (defective) sperm- More than 70% N
coagulation and liquefaction - 20-30 minutes after collection
fructose (a sugar in semen),
pH - 7.2-8.0
the number of immature sperm, and
the number of white blood cells (cells that indicate infection).No white blood cells or bacteria are detected
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The development of a primordial follicle to a preovulatory follicle takes
in excess of 120 days.
After it has become a preantral follicle (0.2mm diameter) it takes about
65 days to develop into a preovulatory follicle.
Cohorts of follicles continually develop but only one is ‘selected’ and
becomes the dominant follicle. All others undergo atresia.
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 1 Follicle-Stimulating Hormone
 2 Estrogens
 3 Luteinizing Hormone
 4 Progesterone
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Corpus Luteum
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Obstetric and Gynecological
Tests
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Common Biochemical Tests for Maternal,
Placental, and Fetal conditions
Condition
Test
MATERNAL
Gestational diabetes
Glucose screening tests at 24-28 weeks: 50g challenge test
OR
2-hour oral glucose tolerance test
1. Urinary protein by dipstick
2. Serum Uric Acid
3. Renal function tests
4. Complete CBC (Hb and Plt.)
Pre-eclampsia*
PLACENTAL
Trophoblastic disease*
(hydatidiform mole or
choriocarcinoma)
FETAL
Down’s Syndrome*
1.HCG”
2.Free β-HCG
3.Urinary HCG
Maternal serum AFP, HCG, pregnancy associated plasma proteinA, and transnuchal US at 11-13 weeks
Maternal serum alpha fetoprotein, HCG, pregnancy-associated
plasma protein-A, and serum unconjugated oestriol in various
combinations between 15 and 18 weeks gestation
1. Maternal serum alpha fetoprotein or
2. Amniotic fluid alpha fetoprotein (less common)
Neural Tube Defects
potential use of fetal DNA in maternal circulation
HCG human chorionic gonadotrophin
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Pregnancy Related Diabetes
 The prevalence of gestational diabetes mellitus
ranges from 1 to 14%.
 Screening for gestational diabetes mellitus is
strongly advocated at 25-28 weeks of gestation.
 This enables early intervention which results in
significant improvements in both fetal and maternal
outcomes.
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Diabetes
 The diagnosis can be confirmed by further tests of fasting glucose
concentration or
 A 75 g oral glucose tolerance test.
 These patients should be reassessed in the postpartum period for
evidence of diabetes.
 The woman's glycated hemoglobin
(Hb A1c) should be maintained in the normal range or as near
normal as possible to ensure optimal fetal outcome. Normal
HbA1c values less than 5%
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Pre-eclampsia
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Pre-eclampsia occurs typically in the third trimester
and affects 4-8% of pregnancies.
It constitutes a triad of:
pregnancy-associated hypertension (that is, there is
no pre-existing hypertension),
marked proteinuria (greater than 300 mg daily) and
pathological edema
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Pregnancy routine checks
 Dipstick Urinary testing for protein, is performed at each antenatal
visit together with
 Blood Pressure measurement and
 careful examination for edema.
 Other findings include: rises in serum uric acid (which can
antedate the onset of hypertension), urea and creatinine.
 Low hemoglobin and platelet concentrations are informative if the
patient is suspected to have the severe form of pre-eclampsia haemolysis-elevated liver enzymes-low platelets (HELLP).
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Fetal Health Monitoring
 Ultra Sound most commonly used
 Alpha fetoprotein
 Alpha fetoprotein is a fetal protein arising from the yolk sac
and fetal liver. It can be detected in increasing
concentrations in maternal serum until 32 weeks of normal
gestation.
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Neural tube defects
 Spina bifida and anencephaly
 As a marker of neural tube defects maternal serum
alpha fetoprotein, ideally, should be measured
between 15 and 18 weeks of gestation.
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Down's syndrome
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It is the result of either partial or total trisomy of chromosome 21 and is a
major obstetric concern, particularly in older women.
Important biochemical markers include:
alpha fetoprotein,
HCG,
unconjugated estriol,
pregnancy-associated plasma protein-A,
serum inhibin-A and
free β-HCG.
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Nuchal Translucency (NT)
 Increased NT refers to a NT measurement of greater
than 3 mm.
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 While not all birth defects can be found before delivery,
certain tests can help to find some birth defects. The options
for prenatal diagnosis of birth defects and chromosomally
abnormal babies include:
 maternal serum triple screen
 amniocentesis
 chorionic villus sampling
 Maternal screening for the detection of neural tube defects
and fetal trisomy (most commonly Down syndrome) is offered
to women under the age of 35.
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Triple/Quad Test
 The triple test measures three hormones in the
maternal serum:
 alpha-fetoprotein
 HCG
 Estriol
 Inhibin-A
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Other approaches
 Analysis of amniotic fluid:
 bilirubin concentration - critical for assessing fetal intravascular haemolysis in the
presence of Rhesus incompatability.
 Fetal DNA:
 A major advance in molecular biology has been the possible detection and isolation of
fetal DNA in the maternal circulation.
 This exciting discovery has opened up new horizons in the 'non-invasive' assessment
of fetal-maternal health.
 High concentrations of fetal DNA in the maternal circulation have been found in Down's
syndrome, pre-eclampsia, invasive placenta and preterm labour. This technique has
also allowed for the prenatal non-invasive diagnosis of
 Rhesus D genotype, myotonic dystrophy and achondroplasia
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Chorionic Villus Sampling
 Chorionic villus sampling involves sampling the chorionic villi, tiny parts of the
placenta, either through the vagina or through the abdomen under ultrasound
guidance.
 Chorionic villus sampling can be performed in the first trimester, usually
between 10 and 12 weeks, so the results are obtained earlier than
amniocentesis. The pregnancy loss rates after chorionic villus sampling are
estimated at 1/100.
 In addition, it does not evaluate alpha-fetoprotein, and therefore does not give
information about neural tube defects.
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Apgar Evaluation of
the Newborn Infant
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0
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Heart rate
absent
<100
>100
Respiratory effort
absent
slow, irregular
good, crying
Muscle tone
limp
some flexion of
extremities
active motion
Irritability
no response
grimace
cough or sneeze
Color
blue, pale
body pink, extremities
blue
completely pink
1. Apgar V. Res Anesth Analg 1953;32:260.
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 A total score of 10 indicates an infant in the best possible
condition.
An infant with a score of 0-3 requires immediate
resuscitation. A low score does not necessarily signify fetal
hypoxia-acidosis.
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BRCA
 The risk at age 50 in BRCA1 carriers is about 50%.
 So half of all BRCA1 carriers will already have breast cancer by the time
they are 50.
 In those that haven’t developed it, the risk will gradually go up as they
get older, to a maximum of about 80%. So 80 out of every 100 women
carrying a BRCA1 gene fault (8 out of 10) will get breast cancer at some
point. And
 2 out of 10 won't.
 20% of women who carry BRCA1 mutations will develop breast cancer
by age forty,
 51% by age fifty, and
 87% by age sixty.
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The normal semen parameters established by the
World Health Organization are:
Volume
1.5-5.0 ml
Sperm Density
>20 million sperm/ml
Motility
>60%
Morphology
>60% normal forms
Forward Progression
(scale 1-4) 2+
Viscosity No Hyperviscosity
White blood cells
0-5 per high power field
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Laboratory evaluation of amenorrhea
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CAH -= congenital adrenal hyperplasia;
DHEAS = dehydroepiandrosterone sulfate;
FSH = follicle-stimulating hormone;
HCA = hypothalamic chronic anovulation; PCO = polycystic ovary syndrome;
PRL = prolactin; T = testosterone; TSH = thyroid-stimulating hormone
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PREMATURE OVARIAN FAILURE
(POF)
 Young women who experience loss of regular menses for three or more
consecutive months should be evaluated
 Failure to initiate pubertal development by age 13 or begin menstruating
by age 15 also warrants evaluation
 FSH levels > 30 mIU/mL
 Serum estradiol ~50 pg/mL
 Basal LH levels > FSH levels (suggests functional ovarian follicles)
 Look for hypoestrogenism, and hyper gonadotropinism
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PMS
 Four common patterns of PMS symptomatology in
relation to the menstrual cycle. Note that in every
case symptoms commence after ovulation.
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PRISM Calendar
(Prospective Record of the Impact and Severity of Menstrual symptoms)
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Hormonal testing for infertile women is recommended when
abnormalities in the menstrual cycle or physical examination are
identified.
Tests may include, among many other possibilities, analysis of:
Thyroid function,
FSH and LH levels,
Estrogen or Progesterone levels,
Prolactin level or
Androgens such as testosterone, DHEA-sulfate or
androstenedione.
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Third Trimester (28 weeks –
delivery)
 Urien screen for sugar and protein
 Antibody screen (Rh)
 Group-B Streptococcus
 Gonorrhea, chlamydia, and syphilis
 Hemoglobin and platelet count
 Fetal Fibronectin (fFN)
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 Rh Antibody screen for
 Rh-negative mother who has an Rh-positive baby.
 If negative for Rh antibodies, then an Rh immune globulin
injection (also referred to as RhoGAM), may be given to the Rhnegative mother to prevent her from reacting to the baby’s cells
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GB Screen (Group B
Streptococcus ) 35-37 weeks
 DO NOT CONFUSE WITH Group A (Sore throat)
 during delivery can spread to infect the uterus, amniotic
fluid, urinary tract
 baby may become septic (infection in blood), develop
pneumonia, suffer hearing or vision loss, or develop
varying degrees of physical and learning disabilities.
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Fetal Fibronectin
 evaluate a pregnant woman’s risk of preterm delivery\
 fFN, a glycoprotein found at the boundary between the
amniotic sac and the lining of the uterus
 26 to 34 weeks
 High levels indicate an increased risk
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PAP Smears
 DNA test for HPV is gaining widespread acceptance as
an additional cervical cancer screening tool and as a
follow-up test to abnormal changes on a Pap smear. It
uses the same cervical sample as the Pap smear to
detect and confirm the presence of high-risk types of
HPV; it tests for the 13 most common types of high-risk
HPV but does not distinguish between them
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 women 30 years or older be offered the HPV DNA test in addition
to their Pap smear and pelvic exam.
 If the HPV DNA test and Pap smear are negative and the woman
does not have an underlying health condition, she may wait
three years before having another Pap smear and HPV DNA test.
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 Typing of the HPV is not usually necessary.
 HPV types 6 and 11 typically cause venereal warts, and
(along with types 42, 43, and 44) have a low risk of
progressing to cancer.
 HPV types 16, 18, 31, 33, and 36 have a higher risk of
progressing to cancer.
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PAP Test (Papanicolaou smear)
 American Cancer Society: Annually
 frequent sexual partners, is pregnant, or has abnormal
vaginal bleeding, pain, sores, discharge, or itching.
 three consecutive normal Pap smears
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What does the test result mean?
Abnormal changes in squamous cells (ASCUS) or glandular cells
(AGCUS) for which the cause is undetermined. An ASCUS test
result is frequently followed-up with DNA testing to identify the
presence of a high-risk infection with Human Papilloma Virus
(HPV).
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CINCervical Intraepithelial Neoplasm
The classification of CIN is as follows:
CIN 1: Mild dysplasia
CIN 2: Moderate dysplasia
CIN 3: Severe dysplasia to
carcinoma in situ
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NORMAL CERVIX
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Chronic Cervicitis
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Cervical Dysplasia
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PAP SMEAR
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Cervical Cancer
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