زنان و زایمان Flashcards
If alpha- fetu protein is high in 16th week, what will be the next step?
𝑼𝒍𝒕𝒓𝒐𝒔𝒐𝒏𝒐𝒈𝒓𝒂𝒑𝒉𝒚 𝒇𝒐𝒓 𝒅𝒆𝒕𝒆𝒄𝒕𝒊𝒏𝒈 𝒈𝒆𝒔𝒕𝒂𝒕𝒊𝒐𝒏𝒂𝒍 𝒂𝒈𝒆
What is the first step in managing abnormal maternal serum alpha-fetoprotein (MSAFP) levels at 18 weeks gestation?
Confirm gestational age using ultrasound.
After confirming a discrepancy in gestational age via ultrasound, what is the next step in managing abnormal MSAFP levels?
Proceed with amniocentesis
What screening should be offered if there is a risk factor for chromosomal abnormalities?
Cell-free DNA screening
What is the role of ultrasound in managing high MSAFP levels?
Ultrasound is used to confirm gestational age and identify the cause of elevated MSAFP.
What measurements are typically used in an ultrasound to calculate gestational age?
Femur length, crown-rump length, and other fetal measurements.
In managing vaginal bleeding at 38 weeks, what are the key initial interventions?
Obtain IV access, fetal monitoring, and prepare for cesarean section if necessary
What are some non-reassuring fetal patterns during continuous fetal monitoring (CTG)?
Bradycardia, tachycardia, and decelerations.
How should non-reassuring fetal heart patterns be managed?
Discontinue medications, provide IV fluids, change the patient’s position, and perform vaginal exams to check for cord prolapse
What should be done if cord prolapse is detected during labor?
Immediate intervention is required, potentially including a cesarean section
What is the importance of fetal scalp stimulation?
To observe for fetal acceleration, indicating well-being, or to assess the need for intervention.
What is the protocol if fetal acidosis is confirmed?
.
Provide IV fluids, change patient position, and proceed with timely delivery.
How is patient positioning used to manage variable deceleration and cord compression during labor?
Positions such as left lateral or knee-chest are used to relieve cord compression
What is the role of continuous fetal monitoring in labor?
To detect non-reassuring patterns and fetal distress, which may require immediate intervention.
What are the criteria for performing a cesarean delivery in labor?
Non-reassuring fetal patterns or confirmed fetal acidosis.
What prenatal tests are used for Down syndrome screening in high-risk patients?
Cell-free DNA testing and chorionic villus sampling (CVS).
What are IPS 1 and IPS 2 in prenatal testing?
Integrated Prenatal Screening (IPS) 1 and 2 are sequential screenings combining ultrasound and blood tests to assess risk for chromosomal abnormalities.
When is quadruple testing used in prenatal care?
It is used for non-high-risk patients between 15 and 20 weeks gestation to screen for chromosomal abnormalities
What is the next step if cell-free DNA screening is positive for Down syndrome?
Confirm the results with diagnostic testing like amniocentesis for karyotyping
Why is karyotyping important after a positive screening test?
It provides a definitive diagnosis of chromosomal abnormalities
What should be included in routine antenatal care?
Monthly visits, blood pressure monitoring, urine tests, fetal growth assessments, and patient education.
When should a patient be referred to an obstetrician during pregnancy?
Around 36 weeks gestation or earlier if any abnormalities are detected.
How is polyhydramnios identified and managed?
Through ultrasound to measure amniotic fluid levels and identify potential etiologies.
In the case of vaginal bleeding at 38 weeks, what preparations should be made?
Establish IV access, initiate continuous fetal monitoring, and prepare for possible cesarean section.
What factors determine the induction of labor?
Cervical readiness (Bishop score), fetal condition, presence of infections, and membrane status.
How is oxytocin administered for labor induction?
Via intravenous infusion with careful titration to stimulate contractions
What are variable decelerations, and what do they indicate?
Fluctuations in fetal heart rate due to umbilical cord compression.
How should variable decelerations be managed during labor?
Change maternal position, administer IV fluids, and perform a vaginal exam to rule out cord prolapse.
What is the purpose of fetal scalp stimulation?
To assess fetal well-being by observing accelerations in heart rate.
What steps are taken if fetal acidosis is suspected?
Perform fetal scalp blood sampling for pH testing and prepare for timely delivery if acidosis is confirmed.
Why is patient positioning important during labor complications?
Positions like left lateral or knee-chest can alleviate cord compression and improve fetal oxygenation.
What is cord prolapse, and why is it an emergency?
When the umbilical cord descends through the cervix before the fetus, leading to compromised blood flow; it requires immediate delivery.
How does continuous fetal monitoring contribute to labor management?
As It detects fetal distress early, allowing for prompt interventions to prevent complications.
How is gestational age calculated using ultrasound measurements?
By measuring femur length, crown-rump length, and other fetal parameters
What are the initial steps when managing a patient whose labor story changes upon arrival?
Reassess the patient, confirm fetal well-being, and adjust the management plan accordingly.
What factors might prompt earlier referral to an obstetrician before 36 weeks?
Detection of any abnormalities or high-risk factors during prenatal care.
Why is it important to confirm gestational age when abnormal MSAFP levels are detected?
Incorrect gestational dating can affect the interpretation of MSAFP levels and subsequent management.
What is the purpose of chorionic villus sampling (CVS)?
Early diagnostic testing for chromosomal abnormalities, typically performed between 10-13 weeks gestation.
How should healthcare providers proceed if non-reassuring fetal heart rate patterns persist despite initial interventions?
Consider expedited delivery, such as cesarean section, to prevent fetal compromise.
Why is patient education an essential part of antenatal care?
It empowers patients to understand their pregnancy, recognize warning signs, and engage in healthy behaviors
What are some risk factors for chromosomal abnormalities that may warrant cell-free DNA testing?
- advanced maternal age
- family history of genetic disorders
- previous child with chromosomal abnormalities
How does amniocentesis assist in prenatal diagnosis?
It analyzes fetal cells for genetic and chromosomal information.
What are some signs of fetal distress during labor?
Non-reassuring fetal heart rate patterns like prolonged decelerations or persistent tachycardia.
What does the term ‘bifid scrotum’ refer to?
A condition where the scrotum is split or divided
What is primary amenorrhea?
The absence of menstruation by age 15 or 16
Primary amenorrhea can be evaluated through various hormonal tests.
What hormonal levels are typically high in primary amenorrhea?
High FSH
High FSH levels may indicate primary ovarian insufficiency or other conditions.
What is 17-alpha-hydroxylase deficiency?
A condition affecting steroid hormone synthesis
It can lead to specific features such as lack of sexual development.
What should be evaluated if 17-alpha-hydroxylase deficiency is suspected?
Evaluate for 17-alpha-hydroxylase (CYP17) deficiency
This evaluation helps in diagnosing adrenal and gonadal disorders.
What is the karyotype associated with Turner syndrome?
45,X karyotype
Turner syndrome can also present with mosaics like 45,X/46,XX or 45,X/46,XY.
What are individuals with Turner syndrome at risk for?
Gonadoblastoma
This risk is particularly noted in those with atypical karyotypes.
What is hypogonadotropic hypogonadism?
A condition characterized by low gonadotropin levels
It can result from functional hypothalamic amenorrhea or systemic illnesses.
What systemic illnesses can cause hypogonadotropic hypogonadism?
Celiac disease or type 1 diabetes mellitus
These conditions can impact hormone regulation and menstrual function.
What imaging study is recommended to rule out a sellar mass in amenorrhea cases?
Pituitary MRI
This imaging helps in identifying potential pituitary tumors or abnormalities.
What is the significance of low LH and normal FSH in evaluating amenorrhea?
Indicates 46,XX primary ovarian insufficiency
This hormonal pattern guides further diagnostic considerations.
What does a karyotype of 46,XY indicate in the context of gonadal dysgenesis?
Gonadal dysgenesis
This condition can lead to underdeveloped or absent gonads.
What does low or normal FSH indicate in terms of breast development?
Breast development ≥ Tanner stage 2? No
This indicates that low or normal FSH levels are associated with the absence of breast development beyond Tanner stage 1.
What is the percentage of individuals with primary amenorrhea when the uterus is present and FSH levels are high?
100%
This suggests a strong correlation between high FSH levels and primary amenorrhea in individuals with a present uterus.
What is indicated by high FSH levels?
Features of 17-alpha-hydroxylase deficiency? No
High FSH levels do not suggest the presence of 17-alpha-hydroxylase deficiency.
What should be evaluated if high FSH is present?
Repeat FSH, add LH
This indicates the need for further evaluation of hormonal levels to assess the condition more accurately.
What test should be ordered to further investigate hormonal deficiencies?
Order karyotype
A karyotype test can help identify chromosomal abnormalities that may be linked to hormonal conditions.
What is primary amenorrhea?
The absence of menstruation by age 15 while having some secondary sexual characteristics present.
This condition indicates that a female has not started menstruating despite having developed some physical traits associated with puberty.
What are two differential diagnoses for a phenotypically female patient with absent uterus and primary amenorrhea?
- Mülerian agenesis
- Androgen insensitivity
These conditions can explain the absence of menstruation in a female patient with specific physical characteristics.
What is the significance of labio-scrotal fusion in this patient?
It suggests the presence of androgen insensitivity, specifically partial androgen insensitivity.
Labio-scrotal fusion indicates that the patient may have been exposed to male hormones during development.
What studies are most appropriate to confirm a diagnosis of androgen insensitivity?
- Serum testosterone
- Dihydrotestosterone
- Karyotype
These tests help determine the hormonal profile and genetic makeup of the patient to confirm the diagnosis.
What testosterone levels would indicate a diagnosis of androgen insensitivity?
Male-appropriate testosterone levels.
High testosterone levels in a phenotypically female patient can indicate that the patient has androgen insensitivity.
What karyotype would confirm a diagnosis of androgen insensitivity?
46 XY karyotype.
This genetic pattern indicates male chromosomal characteristics despite the female phenotype.
What testosterone levels would suggest Mülerian agenesis?
Female-appropriate testosterone levels.
Normal female testosterone levels in a patient with primary amenorrhea suggest that the uterus is absent due to Mülerian agenesis.
What karyotype would confirm a diagnosis of Mülerian agenesis?
46 XX karyotype.
This genetic pattern indicates typical female chromosomal characteristics, aligning with the diagnosis.
What is primary amenorrhea?
Absence of menstruation by age 15 or failure to develop secondary sexual characteristics by age 13
Primary amenorrhea can indicate various underlying conditions or disorders.
What indicates a low or normal FSH level in primary amenorrhea?
Presence of uterus and breast development at Tanner stage 2
This may suggest conditions like congenital GnRH deficiency or hypothalamic disorders.
What is evaluated when high prolactin (PRL) is present in primary amenorrhea?
Evaluate for high TSH or high testosterone levels
These could indicate thyroid dysfunction or adrenal issues.
What anatomic abnormalities can be identified on ultrasound in primary amenorrhea?
Perforate hymen, transverse vaginal septum
These conditions affect the normal flow of menstrual blood.
What are the potential causes of low LH and FSH levels?
Congenital GnRH deficiency, constitutional delay of puberty, other hypothalamic-pituitary disorders
These conditions can disrupt normal hormonal signaling.
Fill in the blank: High PRL, abnormal TSH, or high T _______ can indicate issues in primary amenorrhea.
testosterone
These hormone levels can provide clues to underlying endocrine disorders.
What does the presence of low LH and normal FSH suggest in primary amenorrhea?
46,XX primary ovarian insufficiency
This indicates a problem with ovarian function rather than a hypothalamic or pituitary issue.
What conditions can lead to functional hypothalamic amenorrhea?
Systemic illness, such as celiac disease or type 1 diabetes
These illnesses can impact the hypothalamus and disrupt menstrual cycles.
What diagnostic tool is suggested for evaluating pituitary-related causes of amenorrhea?
Pituitary MRI
This imaging can identify structural abnormalities affecting hormone production.
What is primary amenorrhea?
Lack of menses by age 13 and no breast development, or lack of menses by age 15 with breast development present
Primary amenorrhea is a condition where menstruation has not occurred by the expected ages, indicating a potential underlying health issue.
What are the initial steps to evaluate a patient with primary amenorrhea?
1) Perform history and physical examination
2) Initial lab tests: hCG, FSH, TSH, PRL
3) Pelvic ultrasound
These steps help identify possible causes of amenorrhea and assess reproductive health.
What karyotype is associated with complete androgen insensitivity syndrome?
46,XY
Individuals with this karyotype may present with a female phenotype despite having male chromosomes due to insensitivity to androgens.
What is the presentation of 5-alpha-reductase deficiency at birth?
Female or ambiguous genitalia, unable to convert T to DHT
This condition affects the development of male genitalia, leading to atypical external characteristics.
What hormone levels would be expected in complete androgen insensitivity syndrome?
Serum testosterone in normal range
Despite the XY karyotype, individuals typically have normal testosterone levels but do not respond to it.
What is the significance of assessing breast development in patients with primary amenorrhea?
To determine the presence of estrogen activity and assess for potential causes of amenorrhea
Breast development indicates that certain hormonal functions are occurring, which can guide diagnosis.
Fill in the blank: The initial lab tests for evaluating primary amenorrhea include hCG, FSH, TSH, and _______.
PRL
Prolactin (PRL) levels are measured to assess for potential endocrine disorders affecting menstruation.
True or False: A pelvic ultrasound is not necessary in the evaluation of primary amenorrhea.
False
A pelvic ultrasound is important to visualize the reproductive organs and identify any anatomical abnormalities.
What is the role of FSH in the evaluation of primary amenorrhea?
To assess ovarian function and reserve
Follicle-stimulating hormone (FSH) levels help determine if the ovaries are producing eggs and responding to hormonal signals.
What is the Tanner stage 2 in breast development?
Beginning stages of breast budding and areola enlargement
Tanner stages are used to assess sexual maturity and development in adolescents.
What is primary amenorrhea?
Absence of menstruation by age 15 or 16.
Primary amenorrhea can be evaluated through various tests including hCG levels.
What does a positive hCG indicate?
Pregnancy.
hCG (human chorionic gonadotropin) is a hormone produced during pregnancy.
What is the significance of an absent uterus in a patient with primary amenorrhea?
It suggests possible congenital conditions such as Mullerian agenesis.
Further evaluation may include karyotyping and serum testosterone levels.
What is Mullerian agenesis?
Congenital absence of the vagina and usually the uterus.
Also known as Mayer-Rokitansky-Küster-Hauser syndrome.
What are the serum testosterone levels in a patient with Mullerian agenesis?
Normal female range.
FSH levels are also normal, and breast development is typically normal.
What characterizes complete androgen insensitivity syndrome?
Female phenotype with serum testosterone in normal male range.
This condition results from a defect in the androgen receptor.
What is the presentation of 5-alpha-reductase deficiency at birth?
Female or ambiguous genitalia.
This condition prevents the conversion of testosterone to dihydrotestosterone (DHT).
What happens at puberty in a patient with 5-alpha-reductase deficiency?
Virilization occurs with serum testosterone in normal male range.
This can lead to the development of male secondary sexual characteristics.
What imaging study is often ordered for assessing pelvic anatomy?
Pelvic ultrasound.
This imaging can help visualize the presence or absence of reproductive structures.
Fill in the blank: 46,XX indicates a _______.
Normal female karyotype.
Karyotyping is essential for diagnosing various intersex conditions.
Fill in the blank: 46,XY indicates a _______.
Normal male karyotype.
This karyotype is typically associated with male phenotypes unless other conditions are present.
What is primary amenorrhea?
Absence of menstruation by age 15 or by age 13 with no secondary sexual characteristics
Primary amenorrhea can be due to various causes, including genetic conditions or anatomical abnormalities.
What are the key features of primary amenorrhea?
Presence of uterus, low or normal FSH, breast development at least at Tanner stage 2
Tanner stages are a scale of physical development in children, adolescents, and adults.
What is the significance of Tanner stage 2 in breast development?
Indicates the onset of breast development in females
Tanner stage 2 is characterized by breast buds and some enlargement of the areola.
What should be assessed if a patient has primary amenorrhea with a uterus present?
Repeat FSH and add LH testing
FSH (Follicle Stimulating Hormone) and LH (Luteinizing Hormone) are critical in evaluating ovarian function.
If breast development is not at least Tanner stage 2, what might this indicate?
Possible anatomical abnormality
Anatomical abnormalities may include issues such as Mayer-Rokitansky-Küster-Hauser syndrome.
True or False: Low or normal FSH levels are consistent with primary amenorrhea.
True
Abnormal FSH levels can indicate various conditions affecting the ovaries or pituitary gland.
Fill in the blank: Primary amenorrhea is diagnosed when menstruation has not occurred by age _______.
15
Additionally, it can be diagnosed by age 13 if there are no secondary sexual characteristics.
What imaging technique can help identify anatomical abnormalities in primary amenorrhea?
Ultrasound
Ultrasound can visualize the reproductive organs and identify structural issues.
What indicates adequate estrogen production in a physical exam?
Presence of breasts
Breasts are a secondary sexual characteristic influenced by estrogen levels.
What is assessed during a physical exam and ultrasound regarding the reproductive system?
Presence or absence of breasts and uterus
These assessments help evaluate sexual development and reproductive health.
Which tests are included in the evaluation of reproductive health?
Karyotype, testosterone, FSH
These tests provide insights into genetic and hormonal status.
Fill in the blank: Breasts indicate adequate _______ production.
estrogen
True or False: The absence of a uterus on ultrasound suggests a normal reproductive system.
False
The absence of a uterus may indicate developmental issues or certain medical conditions.
What is primary amenorrhea?
Absence of menstruation by age 15 in girls with secondary sexual characteristics or by age 13 without them.
Primary amenorrhea can indicate various underlying conditions, including hormonal imbalances or anatomical abnormalities.
What is complete androgen sensitivity syndrome?
A condition where individuals have a female phenotype but are genetically male (46,XY) due to a defect in the androgen receptor.
Serum testosterone levels are typically in the normal male range despite the female phenotype.
What is 5-alpha-reductase deficiency?
A genetic condition resulting in ambiguous genitalia at birth and virilization during puberty due to an inability to convert testosterone to dihydrotestosterone (DHT).
Individuals typically present with normal serum testosterone levels during puberty.
What are the characteristics of outflow tract disorders?
Includes conditions such as imperforate hymen and transverse vaginal septum.
These conditions can lead to primary amenorrhea due to obstruction.
What laboratory tests are recommended for evaluating amenorrhea?
Repeat FSH, add LH, and assess for high prolactin, abnormal TSH, or high testosterone levels.
These tests help to determine the underlying cause of amenorrhea.
What is hypogonadotropic hypogonadism?
A condition characterized by low levels of gonadotropins (LH and FSH) due to issues in the hypothalamus or pituitary gland.
It can be caused by functional hypothalamic amenorrhea, systemic illnesses, or congenital conditions.
What are common systemic illnesses associated with amenorrhea?
Celiac disease and type 1 diabetes mellitus.
These conditions can lead to functional hypothalamic amenorrhea.
What imaging study is used to rule out sellar mass in amenorrhea evaluation?
Pituitary MRI.
This imaging study helps identify potential tumors or abnormalities affecting pituitary function.
True or False: High prolactin levels can indicate a cause for amenorrhea.
True.
Hyperprolactinemia can disrupt normal menstrual function and is an important factor to evaluate.
Fill in the blank: The hormone responsible for stimulating the ovaries is _______.
Luteinizing hormone (LH).
LH, along with FSH, plays a crucial role in regulating the menstrual cycle and ovulation.
What does a normal FSH level indicate in the context of amenorrhea?
May indicate ovarian insufficiency or hypothalamic dysfunction.
FSH is typically elevated in primary ovarian insufficiency.
What are the implications of low LH and normal FSH levels?
May suggest conditions such as congenital GnRH deficiency or constitutional delay of puberty.
This hormonal profile can help direct further testing and diagnosis.
What are some secondary sexual characteristics that may be absent in certain types of amenorrhea?
Breast development, body hair, and menstrual cycles.
The absence of these characteristics can help indicate specific types of amenorrhea.
What is primary amenorrhea?
Lack of menses by age 13 without breast development or lack of menses by age 15 with breast development
Primary amenorrhea is a condition where menstruation has not occurred by the expected age.
What initial lab tests should be performed for a patient with primary amenorrhea?
hCG, FSH, TSH, PRL
These tests help assess hormonal levels and rule out certain conditions.
What imaging study is recommended for evaluating primary amenorrhea?
Pelvic ultrasound
Ultrasound helps visualize the reproductive organs.
What does a normal karyotype and serum testosterone level indicate in a patient with breast development?
Possible Mayer-Rokitansky-Küster-Hauser syndrome
This syndrome is characterized by congenital absence of the vagina and often uterine agenesis.
What is complete androgen insensitivity syndrome?
Female phenotype with serum testosterone in normal male range, resistant to testosterone due to a defect in androgen receptor
This condition leads to a female external appearance despite having male XY chromosomes.
What is the presentation of 5-alpha-reductase deficiency at birth?
Female or ambiguous genitalia, unable to convert testosterone to DHT
This condition affects male genital development.
What might indicate an outflow tract disorder in primary amenorrhea?
Anatomic abnormality identified on ultrasound such as imperforate hymen or transverse vaginal septum
These conditions can obstruct menstrual flow.
What features are associated with 17-alpha-hydroxylase deficiency?
High blood pressure, absence of secondary sexual characteristics, or minimal body hair
This condition can affect adrenal hormone production.
What karyotype is associated with Turner syndrome?
45,X
Turner syndrome can also present as mosaics such as 45,X/46,XX or 45,X/46,XY.
What is hypogonadotropic hypogonadism?
Condition characterized by low levels of gonadotropins due to hypothalamic or pituitary disorders
It can be caused by functional hypothalamic amenorrhea or systemic illness.
True or False: MRI is always required for patients with hypogonadotropic amenorrhea.
False
MRI is not required if there is a clear explanation for the hypogonadotropic amenorrhea.
Fill in the blank: The hormone abbreviated as TSH is known as _______.
thyroid-stimulating hormone
TSH is crucial for regulating thyroid function.
What is primary amenorrhea?
Absence of menstruation by age 15 or lack of secondary sexual characteristics by age 13
It is a condition often evaluated in the context of various underlying disorders.
What is the significance of low or normal FSH in the context of complete androgen sensitivity syndrome?
Indicates a female phenotype with normal serum testosterone levels
This condition results from a defect in the androgen receptor, leading to resistance to testosterone.
What are the characteristics of 5-alpha-reductase deficiency at birth?
Female or ambiguous genitalia due to inability to convert testosterone to dihydrotestosterone
Virilization occurs at puberty with normal serum testosterone levels.
What is the Tanner stage criterion for breast development in amenorrhea evaluation?
Breast development should be ≥ Tanner stage 2
This is used to assess secondary sexual characteristics in patients.
What anatomical abnormalities can be identified on ultrasound in outflow tract disorders?
Imperforate hymen, transverse vaginal septum
These conditions can lead to primary amenorrhea due to obstruction.
What hormonal levels are indicative of hypogonadotropic hypogonadism?
LH and FSH very low or low
This condition may be due to congenital GnRH deficiency or other hypothalamic-pituitary disorders.
What are potential causes of functional hypothalamic amenorrhea?
Systemic illness such as celiac disease or type 1 diabetes mellitus
These conditions can impact the hypothalamic-pituitary axis.
What should be done if there is a suspicion of a sellar mass in the pituitary gland?
Pituitary MRI should be performed
This is important to rule out structural causes of amenorrhea.
What are the potential symptoms associated with polycystic ovary syndrome (PCOS)?
Hypertension, absence of secondary sexual characteristics, minimal body hair
PCOS is a common endocrine disorder that can lead to various reproductive and metabolic issues.
True or False: High prolactin (PRL) levels can be a cause of secondary amenorrhea.
True
Hyperprolactinemia can disrupt normal menstrual cycles.
Fill in the blank: The hormone that stimulates the thyroid gland is _______.
TSH
TSH stands for thyroid-stimulating hormone.
What is the hardware model mentioned in the assembly instruction?
Gx4
Gx4 is the specific hardware model referred to in the instructions.
What step number is indicated in the assembly instruction?
Step 14
This indicates the sequence in the assembly process.
What is the fraction mentioned in the assembly instruction?
11/12
This may refer to a measurement or completion status in the assembly process.
What is the age of the girl brought to the clinic?
17 years old
What is the main concern of the mother regarding her daughter?
Never had a menstrual period
What does the girl report as a possible reason for her delayed period?
Stress
What physical developments are noted in the girl during the examination?
Adult breast development and pubic hair present
What abnormal finding is noted during the pelvic examination?
Foreshortened vagina
What was not seen on the ultrasound of the girl?
No uterus
What is the most appropriate advice regarding the girl’s condition?
Surgical removal of intra-abdominal testes is recommended
True or False: Estrogen and progesterone supplementation is indicated for the girl.
False
Fill in the blank: The absence of a uterus in this case suggests _______.
Müllerian agenesis
What might be a future consideration for the girl’s fertility?
In vitro fertilization is an option
What could be performed for the girl’s anatomical issue?
Vaginal reconstruction may be performed
What is the significance of the girl’s good grades and studying hard?
Indicates she is well-adjusted despite stress
What imaging study might be considered to evaluate for a pituitary tumor?
CT scan of the brain
What does REC stand for?
REC
This acronym may refer to a specific medical term or protocol but requires context for precise definition.
What is the term for the absence of menstruation?
Amenorrhea
Amenorrhea can be classified into primary and secondary types.
What should be assessed during a physical exam for amenorrhea?
Breast development and uterine presence
Adequate breast development may indicate adequate estrogen levels.
What imaging technique is used to determine the presence of a uterus?
Ultrasound
Ultrasound helps visualize the reproductive organs and assess abnormalities.
What laboratory tests are commonly conducted in the evaluation of amenorrhea?
Karyotype, testosterone, FSH
These tests help evaluate chromosomal abnormalities and hormonal levels.
True or False: A physical exam can indicate whether a uterus is present.
True
Physical exams can provide initial insights before imaging studies.
What is primary amenorrhea?
Absence of menstruation by age 15 or failure to develop secondary sexual characteristics by age 13
It is diagnosed when there is no menstruation and secondary sexual characteristics are not developed.
What is the significance of 46,XY in the context of androgen sensitivity syndrome?
Indicates a genetic male with complete androgen insensitivity syndrome presenting with a female phenotype
Serum testosterone levels are in the normal male range, but the individual is resistant to testosterone due to a defect in the androgen receptor.
What is 5-alpha-reductase deficiency?
A condition where individuals may present with female or ambiguous genitalia at birth and virilization at puberty
This occurs due to the inability to convert testosterone to dihydrotestosterone (DHT).
What are the characteristics of the outflow tract disorder?
Includes imperforate hymen and transverse vaginal septum
These conditions can lead to primary amenorrhea due to obstruction.
What is hypogonadotropic hypogonadism?
A condition characterized by low levels of LH and FSH leading to insufficient gonadal function
It can result from functional hypothalamic amenorrhea, systemic illness, or congenital deficiencies.
What laboratory findings are associated with hypothalamic-pituitary disorders?
LH and FSH very low, normal TSH, and possibly high PRL
Conditions such as celiac disease or type 1 diabetes mellitus can provide clear explanations for hypogonadotropic amenorrhea.
What is the typical presentation of polycystic ovary syndrome (PCOS)?
Hypertension, absence of secondary sexual characteristics, or minimal body hair
It is important to differentiate PCOS from other causes of amenorrhea.
What should be evaluated in a patient with suspected hypogonadotropic hypogonadism?
Pituitary MRI to rule out sellar mass
This helps determine if there is an underlying structural cause for the hormone deficiency.
Fill in the blank: The hormone abbreviated as T refers to _______.
[testosterone]
True or False: Breast development at Tanner stage 2 indicates normal puberty.
True
Tanner stages are used to assess sexual maturity and development.
What is the role of follicle-stimulating hormone (FSH)?
Stimulates the growth of ovarian follicles in females and spermatogenesis in males
FSH is critical for reproductive health and function.
What is the age of the girl brought to the clinic?
17 years old
What is the main concern of the mother regarding her daughter?
Never had a menstrual period
What does the girl report as a possible reason for her delayed period?
Stress
What physical developments are noted in the girl during the examination?
Adult breast development and pubic hair present
What abnormal finding is noted during the pelvic examination?
Foreshortened vagina
What was not seen on the ultrasound of the girl?
No uterus
What is the most appropriate advice regarding the girl’s condition?
Surgical removal of intra-abdominal testes is recommended
True or False: Estrogen and progesterone supplementation is indicated for the girl.
False
Fill in the blank: The absence of a uterus in this case suggests _______.
Müllerian agenesis
What might be a future consideration for the girl’s fertility?
In vitro fertilization is an option
What could be performed for the girl’s anatomical issue?
Vaginal reconstruction may be performed
What is the significance of the girl’s good grades and studying hard?
Indicates she is well-adjusted despite stress
What imaging study might be considered to evaluate for a pituitary tumor?
CT scan of the brain
What is the diagnosis characterized by no pubic or axillary hair, a male karyotype, and the presence of testes?
Androgen Insensitivity Syndrome
This syndrome results in the body being unable to respond to androgens, leading to the development of female secondary sexual characteristics despite having a male genotype.
What are the hormone levels produced by the testes in Androgen Insensitivity Syndrome?
- Normal levels of estrogen for a female
- Normal levels of testosterone for a male
The testes function normally in terms of hormone production, but the body cannot utilize these hormones effectively.
What is the recommended management for individuals diagnosed with Androgen Insensitivity Syndrome before the age of 20?
Removal of testes
This is to mitigate the increased risk of testicular cancer associated with retained testes.
What type of replacement therapy is needed after the removal of testes in Androgen Insensitivity Syndrome?
Estrogen replacement
This therapy is necessary to maintain female secondary sexual characteristics after the testes are removed.
What condition results in the absence of uterus, cervix, and upper vagina?
Müllerian agenesis
Müllerian agenesis is a congenital condition affecting female reproductive anatomy.
What is the status of the ovaries in a patient with Müllerian agenesis?
Intact and normal levels of estrogen are present
Although the uterus and vagina are absent, ovarian function remains unaffected.
What surgical procedure may be performed for a patient with Müllerian agenesis?
Vaginal reconstruction
This procedure aims to elongate the vagina for satisfactory sexual intercourse.
Fill in the blank: Müllerian agenesis results in an absence of the _______.
uterus, cervix, and upper vagina
This condition is also known as Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.
True or False: Patients with Müllerian agenesis typically have abnormal estrogen levels.
False
Patients usually have normal estrogen levels despite the absence of certain reproductive structures.
What is Müllerian agenesis?
A diagnosis characterized by the absence of all Müllerian duct derivatives (fallopian tubes, uterus, cervix, and upper vagina) while having a normal female karyotype and secondary sexual characteristics.
What are the normal hormone levels in a patient with Müllerian agenesis?
Normal estrogen and testosterone levels.
What is the primary abnormality in Müllerian agenesis?
Absence of all Müllerian duct derivatives.
What surgical management is involved in Müllerian agenesis?
Surgical elongation of the vagina for satisfactory sexual intercourse.
What counseling is recommended for individuals with Müllerian agenesis?
Counseling about infertility.
True or False: In Müllerian agenesis, the ovaries are intact.
True
What does the presence of breasts indicate?
Adequate estrogen production
Breasts are a secondary sexual characteristic influenced by estrogen levels.
What is assessed during a physical exam and ultrasound in this context?
Presence or absence of breasts and uterus
The evaluation helps determine hormonal levels and sexual development.
What is checked via ultrasound in this assessment?
Presence or absence of uterus
Uterine presence is crucial for evaluating reproductive health.
Which three tests are mentioned for further evaluation?
Karyotype, testosterone, FSH
These tests help assess genetic, hormonal, and reproductive status.
True or False: The absence of breasts suggests low estrogen production.
True
Breast development is closely tied to estrogen levels.
What is Gonadal Dysgenesis commonly known as?
Turner Syndrome
Turner Syndrome is characterized by the absence of one X chromosome.
What karyotype is associated with Turner Syndrome?
45, X
This karyotype indicates the absence of one X chromosome.
What are the clinical features of Turner Syndrome?
Absence of secondary sexual characteristics and elevated FSH
Patients often do not develop breasts and have underdeveloped ovaries.
What develops in the absence of a second X chromosome in Turner Syndrome?
Streak gonads
Streak gonads are non-functional gonadal tissue.
What is the management for Turner Syndrome?
Estrogen and progesterone replacement
This treatment is crucial for the development of secondary sexual characteristics.
What is the diagnosis when there are no sexual characteristics but the uterus is normal on ultrasound and FSH levels are low?
Hypothalamic-pituitary failure
This condition may be due to stress, excessive exercise, or anorexia nervosa.
What syndrome is likely diagnosed when anosmia is also present?
Kallmann syndrome
In this case, the hypothalamus doesn’t produce GnRH.
What imaging technique is used to rule out a brain tumor in cases of hypothalamic-pituitary failure?
CT head
This imaging helps assess potential central nervous system issues.
What is secondary amenorrhea?
Absence of menses for more than three months in girls who previously had regular menstrual cycles or for more than six months in girls who had irregular menses.
What is the first step in evaluating secondary amenorrhea?
Determine if the patient has signs or symptoms suggesting major causes of secondary amenorrhea.
What are some history factors to consider in secondary amenorrhea evaluation?
- Weight change
- Eating disorder
- Excessive exercise
- Galactorrhea
- Hot flashes
- Acne
- Hirsutism
- Systemic illness
- History of uterine instrumentation
What physical exam findings may suggest secondary amenorrhea?
- Low BMI
- Obesity
- Signs of hyperandrogenism
- Galactorrhea
What initial lab tests should be performed for secondary amenorrhea?
- FSH
- E2
- TSH
- PRL
When should serum total testosterone be added to lab tests in secondary amenorrhea?
If there is evidence of hyperandrogenism.
True or False: An elevated prolactin level is a common finding in secondary amenorrhea.
True
Fill in the blank: Secondary amenorrhea is defined as the absence of menses for more than _______ months in girls who previously had regular cycles.
three
Fill in the blank: Secondary amenorrhea is defined as the absence of menses for more than _______ months in girls who had irregular menses.
six
What is secondary amenorrhea?
The absence of menstruation for three or more cycles in a woman who has previously menstruated regularly.
What does an elevated TSH indicate?
Possible thyroid disease requiring further evaluation and treatment.
What does an elevated FSH level suggest in the context of amenorrhea?
It is commonly seen with a low E2 level, indicating potential ovarian failure.
