Amenorrhea ppt, Uterine Disorders ppt, Endometriosis ppt, Infertility ppt, Disorders of the Ovary ppt, Polycystic Ovary Syndrome (PCOS) ppt

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Questions and Answers

What is the most likely cause of primary ovarian insufficiency?

Genetic factors (correct)

Vitamin deficiencies

Increased physical activity

Hormonal contraceptives

What is one of the classic scenarios that can lead to Asherman's Syndrome?

D&C after advanced miscarriage (correct)

Regular menstrual cycles

Multiple gestations

Use of fertility medications

Which hormonal test is utilized to detect primary ovarian insufficiency?

Estrogen levels

FSH levels (correct)

LH levels

Progesterone levels

What condition is characterized by low energy availability and menstrual dysfunction?

Female Athlete Triad Signup and view all the answers

Which aspect of the HPO axis is most likely affected by significant weight loss or changes in diet?

Hypothalamus Signup and view all the answers

What characterizes primary amenorrhea?

Absence of menarche by age 15 Signup and view all the answers

Which condition is characterized by cycles that occur more than 35 days apart?

Oligomenorrhea Signup and view all the answers

Which of the following is NOT a recognized cause of primary amenorrhea?

Functional ovarian hyperstimulation Signup and view all the answers

What is the main reason for the absence of menses in a patient with Turner syndrome?

Absence of normal ovarian tissue Signup and view all the answers

Which option best defines dysfunctional uterine bleeding (DUB)?

Abnormal bleeding not resulting from anatomic abnormality Signup and view all the answers

What is a common cause of secondary amenorrhea?

Polycystic Ovarian Syndrome Signup and view all the answers

Which symptom indicates menorrhagia?

Blood loss exceeding 80 ml per cycle Signup and view all the answers

Which part of the HPO axis's dysfunction can result in amenorrhea?

Hypothalamic, Pituitary, and Ovarian Signup and view all the answers

Which of the following statements accurately describes the primary gonadal issue in Turner syndrome?

Ovaries are replaced by fibrous tissue, resulting in streak gonads. Signup and view all the answers

What laboratory test is essential for diagnosing primary ovarian insufficiency in cases of amenorrhea?

FSH Signup and view all the answers

Which condition is associated with the absence of testosterone receptors in an XY fetus?

Androgen Insensitivity Syndrome Signup and view all the answers

Which of the following would NOT typically be seen in a patient with Androgen Insensitivity Syndrome?

Short stature Signup and view all the answers

In cases of secondary amenorrhea, what percentage is attributed to ovarian etiologies?

40% Signup and view all the answers

What is the primary mechanism for menstrual irregularities due to Functional Hypothalamic Amenorrhea?

Inadequate stimulation or suppression of the HPO axis Signup and view all the answers

What would likely be indicated by a negative Progestin Withdrawal Test following estrogen supplementation?

Complete uterine adhesions or scarring Signup and view all the answers

Which hormonal contraceptive mechanism contributes to secondary amenorrhea?

Thin endometrium and absence of hormonal cycling Signup and view all the answers

Which imaging study is most helpful in confirming a case of Mullerian Agenesis?

Pelvic ultrasound or MRI Signup and view all the answers

Which of the following medications is most likely to cause hyperprolactinemia resulting in secondary amenorrhea?

Metoclopramide Signup and view all the answers

What feature is likely to be absent in a patient with an imperforate hymen?

Menstrual blood flow Signup and view all the answers

What causes the characteristic signs of Turner syndrome such as short stature and osteoporosis?

Estrogen deficiency and chromosomal abnormalities Signup and view all the answers

Which of the following statements is true regarding estrogen production in Androgen Insensitivity Syndrome?

Testes produce testosterone which is aromatized to estrogen. Signup and view all the answers

What is the most common cause of secondary amenorrhea?

Pregnancy Signup and view all the answers

What is the most common etiology associated with endometrial cancer?

Unopposed estrogen Signup and view all the answers

Which type of endometrial cancer typically has a good prognosis and is often discovered at an early stage?

Endometroid Signup and view all the answers

What is the five-year survival rate for patients with stage 1 or 2 endometrioid endometrial cancer?

95% Signup and view all the answers

Which of the following surgical procedures is preferred for the treatment of endometrial cancer?

Hysterectomy Signup and view all the answers

What is the prognosis for early stage grade 3 endometrial cancer?

58% survival rate or worse Signup and view all the answers

What is a distinguishing feature of a hysterosalpingogram (HSG)?

It evaluates the shape of the uterine cavity and diameter of the tubes. Signup and view all the answers

What is the primary purpose of an endometrial biopsy?

To obtain tissue for examination from the uterine lining. Signup and view all the answers

Which of the following uterine conditions is most likely to cause confusion regarding menstrual patterns?

Didelphic uterus Signup and view all the answers

What is a key characteristic of saline infusion sonography (SIS)?

It uses sterile saline during a vaginal ultrasound. Signup and view all the answers

How does adenomyosis differ from endometriosis?

Adenomyosis involves the muscular wall of the uterus. Signup and view all the answers

What is a definitive method for diagnosing adenomyosis?

Pathology report after hysterectomy Signup and view all the answers

Which symptom is most characteristic of endometrial hyperplasia?

Abnormal uterine bleeding Signup and view all the answers

What is the primary risk factor associated with endometrial hyperplasia?

Nulliparity Signup and view all the answers

What is a common presentation of leiomyomata uteri?

Irregular nodules on bimanual exam Signup and view all the answers

Which of the following is considered a treatment option for adenomyosis?

Hysterectomy Signup and view all the answers

Adenomyosis is most commonly diagnosed in which demographic?

Parous women aged 35-50 Signup and view all the answers

What distinguishes benign endometrial polyps from leiomyomata uteri?

Their location within the uterine cavity Signup and view all the answers

Which characteristic is atypical of leiomyomata uteri?

Presence of atypical cellular structures Signup and view all the answers

Which method is most effective for managing symptomatic menorrhagia caused by leiomyomata uteri?

Cyclic oral contraceptives Signup and view all the answers

What imaging method is most appropriate for evaluating the size and number of fibroids?

Transvaginal ultrasound Signup and view all the answers

In what condition is endometrial hyperplasia more likely to progress to endometrial cancer?

Atypical hyperplasia Signup and view all the answers

Which of the following treatments is appropriate for endometrial hyperplasia without atypia?

Addition of progesterone therapy Signup and view all the answers

What condition is characterized by thickened endometrial tissue due to abnormal cell growth?

Endometrial intraepithelial lesion (EIN) Signup and view all the answers

Which surgical procedure is typically performed as a definitive treatment for endometriosis?

Hysterectomy with ablation or excision Signup and view all the answers

What is a common first-line treatment for managing endometriosis pain?

Combined Oral Contraceptives (OCPs) Signup and view all the answers

Which symptom is typically part of the characteristic triad associated with endometriosis?

Dysmenorrhea Signup and view all the answers

What should be done prior to administering GnRH agonists for endometriosis treatment?

Conduct a laparoscopy to confirm diagnosis Signup and view all the answers

Which factor is NOT considered essential when determining management options for endometriosis?

Type of diet Signup and view all the answers

What is the typical demographic for a patient presenting with endometriosis?

In her 30's, nulliparous, and infertile Signup and view all the answers

Which of the following locations is the most common site for endometriosis to occur?

Ovary Signup and view all the answers

What is characterized by the classic triad of symptoms associated with endometriosis?

Dysmenorrhea, dyspareunia, and dyschezia Signup and view all the answers

What is the definitive method for diagnosing endometriosis?

Laparoscopy with histologic findings Signup and view all the answers

Which statement about endometrial cysts, often referred to as 'chocolate cysts,' is correct?

They are filled with old endometrial shedding and blood. Signup and view all the answers

How prevalent is endometriosis among women experiencing chronic pelvic pain?

Found in 1/3rd or more women Signup and view all the answers

What does the staging system for endometriosis primarily help with?

Communicating disease locations among caregivers Signup and view all the answers

What type of pain is typically associated with endometriosis?

Cyclic and non-cyclic pain Signup and view all the answers

What is the primary reason for shortened luteal phase in Luteal Phase Defect?

Corpus luteum involutes earlier than it should Signup and view all the answers

What is a potential complication of using Clomiphene Citrate for ovulation induction?

Ovarian Hyperstimulation Syndrome (OHSS) Signup and view all the answers

What characterizes hydrosalpinx as a common tubal factor in infertility?

There is a complete blockage with no spill during HSG Signup and view all the answers

What is the mechanism of action of Metformin when used in women with PCOS who do not ovulate on Clomiphene Citrate?

It enhances insulin sensitivity to promote ovulation Signup and view all the answers

Which intervention is commonly recommended for a patient diagnosed with a uterine septum and pregnancy losses?

Resection of the uterine septum Signup and view all the answers

What is the primary indicator for evaluating infertility in women older than 35 years?

Failure to conceive after 6 months Signup and view all the answers

Which factor is primarily associated with infertility in men?

Past medical history of orchitis Signup and view all the answers

What percentage of infertility cases can be attributed to ovarian/tubal factors?

45% Signup and view all the answers

Which laboratory test is essential in assessing ovarian reserve in women over 40?

Day 3 FSH Signup and view all the answers

What is the primary element analyzed in a male infertility workup?

Semen analysis Signup and view all the answers

Infertility is defined as a couple’s failure to achieve pregnancy after how long of regular, unprotected intercourse?

1 year Signup and view all the answers

Which condition is least likely to be recognized as a risk factor for ovarian insufficiency?

Family history of asthma Signup and view all the answers

What hormone-related change is typically associated with advancing maternal age affecting fertility?

Increase in FSH and decrease in AMH Signup and view all the answers

Which of the following is characteristic of a benign ovarian cyst on ultrasound?

Fluid-filled and unilocular Signup and view all the answers

What is the primary etiology of a follicular cyst?

Persistent follicle not undergoing atresia Signup and view all the answers

Which symptom might indicate a severe complication of a follicular cyst?

Severe pain suggesting hemorrhage or torsion Signup and view all the answers

What complication is commonly associated with corpus luteum cysts?

Acute pain and potential intraperitoneal bleeding Signup and view all the answers

Which type of benign ovarian cyst is almost always bilateral?

Theca lutein cyst Signup and view all the answers

What does expectant management of a functional cyst entail?

Regular follow-up with imaging over 6-12 weeks Signup and view all the answers

Which of the following conditions is characterized by the presence of chocolate cysts?

Endometrioma Signup and view all the answers

What indicates a functional cyst diagnosis rather than a malignant condition?

Mobile and unilocular configuration Signup and view all the answers

What characteristic feature distinguishes mucinous cystadenomas from serous cystadenomas?

Multiloculated structure filled with sticky mucin Signup and view all the answers

Which symptom is most commonly associated with tubo-ovarian abscesses?

Adnexal pain and mass Signup and view all the answers

What is the most common benign neoplasm found in women under 35 years of age?

Mature cystic teratoma Signup and view all the answers

In the management of benign ovarian tumors, what is indicated when there are signs suggestive of malignancy?

Surgical intervention with frozen section Signup and view all the answers

Which condition is associated with a high risk of rupturing and requires immediate medical attention?

Ovarian torsion Signup and view all the answers

What specific type of fluid do endometriomas typically contain?

Thick brown tar-like fluid Signup and view all the answers

In which situation is laparoscopic intervention NOT indicated for tubo-ovarian abscesses?

Stable condition without sepsis Signup and view all the answers

What is a common complication associated with tubo-ovarian abscesses that could affect future fertility?

Chronic pelvic pain due to adhesions Signup and view all the answers

What percentage of benign epithelial ovarian tumors are bilateral cases?

20% Signup and view all the answers

What is the most appropriate initial management for a patient diagnosed with an ovarian mature cystic teratoma?

Operative laparoscopy with cystectomy Signup and view all the answers

Which characteristic finding in a transvaginal ultrasound is most concerning for ovarian malignancy?

Presence of thick septations Signup and view all the answers

In which patient demographic is the CA-125 serum marker most reliable for indicating malignancy risk?

Postmenopausal women with an ovarian mass Signup and view all the answers

How does the risk of ovarian cancer change for a 35-year-old woman with a BRCA1 gene mutation compared to the general population risk?

Increases to nearly 50% by age 70 Signup and view all the answers

What is a key limitation of using CA-125 as a screening test in premenopausal women?

It is commonly elevated in a variety of benign conditions. Signup and view all the answers

Why are biomarker panels considered less effective as an initial assessment tool for ovarian cancer?

They are more effective for determining surgical need than for initial assessment. Signup and view all the answers

Which symptom is least indicative of a malignant ovarian mass?

Asymptomatic pelvic fullness Signup and view all the answers

What ultrasound finding is commonly associated with a malignant adnexal mass?

Intramural nodule Signup and view all the answers

Which patient demographic is least likely to require referral to a gynecologic oncologist?

A woman with no family history of cancer and an asymptomatic cyst Signup and view all the answers

Which factor is most significantly associated with an increased risk for ovarian cancer?

Age Signup and view all the answers

Which physical exam finding suggests a malignant ovarian mass?

Presence of jaundice Signup and view all the answers

What characteristic finding is least likely to be present in benign adnexal masses?

Thick septations Signup and view all the answers

Which of these conditions is least associated with abdominal swelling or distension?

Benign ovarian cyst Signup and view all the answers

Which of the following statements regarding ovarian cancer risk factors is most accurate?

A strong family history increases personal risk. Signup and view all the answers

Which of the following is a necessary criterion for the diagnosis of PCOS?

Presence of polycystic ovaries Signup and view all the answers

What metabolic condition is commonly associated with PCOS due to insulin resistance?

Metabolic syndrome Signup and view all the answers

Which of the following tests is NOT typically included in the evaluation of a patient suspected to have PCOS?

Apolipoprotein B Signup and view all the answers

Which clinical manifestation is directly associated with hyperandrogenism in patients with PCOS?

Hirsutism Signup and view all the answers

What percentage range is suggested to represent the incidence of PCOS in the general population?

10 – 13% Signup and view all the answers

What is the primary goal of using combined hormonal contraceptives in patients with menstrual irregularities who are not attempting conception?

To prevent unopposed estrogen exposure Signup and view all the answers

Which laboratory test is essential for documenting biochemical hyperandrogenemia in patients suspected of having PCOS?

Serum testosterone levels Signup and view all the answers

How does metformin contribute to improving ovulation rates in patients with insulin resistance?

By decreasing circulating androgen levels Signup and view all the answers

What is the mechanism of action for clomiphene citrate in the treatment of ovulation induction?

It blocks estrogen receptors at the hypothalamus and pituitary Signup and view all the answers

Which treatment option has been shown to delay the development of diabetes in high-risk populations?

Metformin Signup and view all the answers

Which factor is crucial in monitoring the effectiveness of ovulation induction with letrozole?

Identifying elevated progesterone in the luteal phase Signup and view all the answers

What condition is typically characterized by the presence of polycystic ovaries detected via ultrasound?

Polycystic Ovary Syndrome (PCOS) Signup and view all the answers

Which lifestyle modification is considered integral in reducing the risk of cardiovascular disease and diabetes in patients with PCOS?

Regular physical activity Signup and view all the answers

Study Notes

Defining Abnormal Menstruation

Primary Amenorrhea: No menstruation by age 15
Secondary Amenorrhea: Absence of menstruation for 3 or more months in a woman who previously menstruated
Oligomenorrhea: Cycles longer than 35 days apart
Polymenorrhea: Cycles shorter than 24 days
Menorrhagia: Blood loss greater than 80 ml (3 ounces)
Dysfunctional Uterine Bleeding (DUB): Abnormal bleeding without anatomic abnormality, often caused by anovulation

Common Causes of Primary Amenorrhea

Ovarian Causes:
- Gonadal Dysgenesis/Turner Syndrome (43%): Absence of normal ovarian tissue
- Polycystic Ovarian Syndrome (7%): Hormonal imbalance leading to cyst formation
Uterine/Vaginal Causes:
- Mullerian Dysgenesis/Agenesis (15%): Absence or malformation of the uterus and upper vagina
- Outflow Tract Obstruction (e.g., imperforate hymen): Blockage of the passageway for menstrual blood
Hypothalamic Causes:
- Physiologic Delay (14%): Delayed puberty due to normal variations
- Functional Hypothalamic Amenorrhea (2-3%): Caused by stress, low body weight, excessive exercise, or eating disorders
Pituitary Causes:
- Hypopituitarism: Deficiency in pituitary hormones
- Hypogonadotropic Hypogonadism (Kallman syndrome): Deficiency in hormones that stimulate the gonads

Turner Syndrome

Chromosomal Abnormality: 45, XO: Absence of one X chromosome
Ovarian Function: Ovaries are replaced by fibrous tissue ("streak gonads"), resulting in little or no estrogen production.
Hormonal Profile: Elevated FSH levels (similar to menopause).
Management: Hormone replacement therapy starting in adolescence.
Pregnancy: Possible with donated eggs and IVF.

Androgen Insensitivity Syndrome

Genetic Basis: XY chromosomes with testes, but no testosterone receptors.
Presentation: Female-bodied external genitalia, breast development, and lower 1/3 of the vagina.
Mullerian Structures: Absent due to production of MIS (Mullerian Inhibiting Substance) from testes.
Testosterone Production: Testes still produce testosterone, which is partially converted to estrogen.
Breast Development: Estrogen from testosterone conversion binds to estrogen receptors, leading to breast tissue development.

Imperforate Hymen

Cause: Absence of normal apoptosis of cells in the hymenal membrane.
Presentation: Complete or partial blockage of the vaginal opening, resulting in accumulation of menstrual blood (hematocolpos).

Mullerian Abnormalities

Embryological Cause: Malformations during fusion of the paramesonephric ducts, which form the fallopian tubes, uterus, and upper 1/3 of the vagina.
Diagnosis: Pelvic ultrasound or MRI.
Presentation:
- Cyclic pelvic pain
- Possible pelvic mass if functional endometrium is present
- Asymptomatic except for amenorrhea if uterus and/or endometrium are absent.

Functional Hypothalamic Amenorrhea

Cause: Inadequate stimulation or suppression of the hypothalamic-pituitary-ovarian (HPO) axis, without anatomic pathology.
Mechanism: Decreased pulsatile GnRH secretion.
Associated Conditions: Anorexia nervosa, low body weight, excessive exercise, emotional stress, severe illness.
Risk: Increased risk of osteoporosis due to low estrogen levels.

Primary Amenorrhea Diagnosis Labs

With Uterus/Vagina Present: B-HCG, FSH (karyotype if FSH is elevated), TSH, Prolactin.
With Absent Uterus: Karyotype, serum testosterone.

Secondary Amenorrhea: Causes by HPO Axis

Uterine (5%):
- Asherman’s Syndrome: Uterine adhesions from scarring.
Ovarian (40%):
- PCOS: Hormonal imbalance and cyst formation.
- Primary Ovarian Insufficiency: Premature ovarian failure.
- Iatrogenic: Removal or damage to the ovaries during surgery.
Pituitary (15%):
- Prolactinoma: Tumor in the pituitary gland that produces prolactin.
- Other pituitary tumors.
Hypothalamic (40%):
- Functional Hypothalamic Amenorrhea
- Infiltrative lesions of the hypothalamus
- Chronic disease.

Medications that Cause Secondary Amenorrhea

Hormonal Contraceptives: Thin the endometrium and disrupt hormonal cycles.
Medicated IUD: Same as above for hormonal contraceptives.
Thyroid Medications and Lithium: Alter thyroid function.
Metoclopramide (Reglan): Causes hyperprolactinemia.
Antipsychotic Drugs: Cause hyperprolactinemia.

Secondary Amenorrhea: Workup and Evaluation

Initial Lab: Serum HCG (pregnancy test).
Thyroid and Pituitary Assessment: TSH and Prolactin.
Primary Ovarian Insufficiency Assessment: FSH.
PCOS Assessment: Testosterone, 17-OHP, serum progesterone.
Uterine and Ovarian Function Assessment: Progesterone withdrawal test.

Progestin Withdrawal Test

Purpose: To determine if the endometrium is capable of responding to estrogen and to determine the cause of amenorrhea.
Procedure:
- Administer progestin for several days.
- Stop progestin and observe for menstruation.
Positive Result: Menstruation occurs. Indicates estrogen is present and the uterine lining is functioning.
Negative Result: No menstruation:
- Endometrium is scarred (Asherman's Syndrome).
- No estrogen stimulation (POF).
If Negative:
- Supplement with estrogen for a few weeks.
- Repeat progestin withdrawal test.
Positive Result after Estrogen: Endometrium is functional, but not producing enough estrogen (likely ovarian insufficiency).
Negative Result after Estrogen: Problem with the endometrial lining (Asherman's Syndrome).

Secondary Amenorrhea: Other Conditions

Primary Ovarian Insufficiency:
- Age of onset: Before age 40.
- Causes: Genetic, autoimmune, cancer treatment, unknown.
- Diagnosis: Elevated FSH level.
- Complications: Osteoporosis, autoimmune diseases (e.g., thyroid disease).
- Note: Ovaries may sometimes regain function, requiring contraception if pregnancy is not desired.
Asherman’s Syndrome:
- Cause: Endometrial scarring, usually after surgery or infection.
- Presentation: D&C after advanced miscarriage or delivery.
- Risk Factors: Rapid drop in estrogen levels.
PCOS: Creates irregular periods, anovulation, fertility issues, and increased risk for ovarian cancer.

The Female Athlete Triad:

Components:
- Low energy availability (with or without disordered eating).
- Menstrual dysfunction.
- Low bone density.
Mechanism: Energy deficiency affects bone health and can lead to mental dysfunction.
Prevalence: Common among female athletes.
Screening: Pre-participation screening for athletes.

Secondary Amenorrhea: History Questions

Stressors: Hypothalamus involvement (e.g., stress, weight loss, exercise changes)
Acne, Hirsutism, Voice Changes: Possible ovarian involvement (e.g., PCOS)
Headaches, Vision Changes: Possible pituitary involvement (e.g., tumor or other pituitary disease)
Hot Flashes, Vaginal Dryness, Disturbed Sleep: Possible ovarian involvement (e.g., primary ovarian insufficiency).
Galactorrhea: Possible pituitary involvement (e.g., prolactinoma)
History of Uterine Surgery or Infection: Possible uterine involvement (e.g., Asherman's Syndrome)

Menorrhagia

Blood loss greater than 80 ml (~3 ounces)
Can be estimated using specific criteria

Hysterosalpingogram (HSG)

Imaging tool frequently used for uterus and tubes
Injection of radio-opaque dye through the cervix, uterine cavity, and tubes
Shows the shape of the uterine cavity, tube diameter, and whether the tubes exhibit "fill and spill."

Saline Infusion Sonography (SIS)

Also called a sonohysterogram
Performed in the office by injecting sterile saline transcervically while performing vaginal ultrasound

Endometrial Biopsy

Used to obtain a sample of endometrial tissue
Catheter is inserted through the vagina into the uterus to remove cells from the uterine lining

Hysteroscopy

Procedure involving placing a camera through the cervix to visualize the uterine cavity
A medium, like saline or 4% dextrose, is used to inflate the cavity

Mullerian Variations/Disorders

Rarely cause menorrhagia but can create a confusing menstrual pattern

Didelphic Uterus and Vagina

Patients may be aware of one side but not the other, leading to confusion regarding tampon placement

Adenomyosis

A variation of endometriosis, but it's not called endometriosis
Endometrial lining grows into the uterine wall
Often presents as menorrhagia and dysmenorrhea
- Uterine muscle dysfunction
- Muscle must squeeze harder (pain) but still performs suboptimally (bleeding)

Adenomyosis Prevalence

Usually parous women between 35-50 years old

Adenomyosis Symptoms

Secondary dysmenorrhea
Abdominal pressure
Bloating
Menorrhagia
Dyspareunia (Sometimes)
Chronic pelvic pain(Sometimes)

Adenomyosis Signs on Examination

Diffusely enlarged, globular, tender uterus

Adenomyosis Diagnosis

High index of suspicion based on clinical history and exam findings
Characteristic findings on ultrasound and MRI
Definitive diagnosis from pathology report

Adenomyosis Management

Medical: NSAID, Hormonal, Await menopause
Surgical: Hysterectomy is definitive

Benign Endometrial Polyps

Focal overgrowths of endometrial tissue
Soft and fleshy, typically "dangle" into the uterine cavity
Can prolapse out of the cervix
Visible with sonohysteroscopy or office hysteroscopy
Easy to remove with hysteroscopy
Removed tissue should be sent to pathology for examination

Leiomyomata Uteri (Uterine Fibroids)

Benign tumors of smooth muscle cells
Arise in the myometrium
Most common solid pelvic tumor in women
Most frequent indication for benign hysterectomy

Leiomyomata Uteri Incidence

20-50% of women in the United States
Incidence increases with age, peaking in the 40s with a sharp decrease postmenopausally
Genetic component
Typically estrogen-sensitive

Leiomyomata Uteri Problems

Can project into the cavity (submucosal) or out to the surface (subserosal)
Can dangle off the uterine surface (pedunculated)
Can compress the ureters, causing hydronephrosis
Can cause abdominal pressure/heaviness and constipation
Rarely cancerous but commonly contribute to menorrhagia and can cause infertility
Often asymptomatic

Evaluating Leiomyomata Uteri

Abdominal exam: At level of pubic symphysis= "12 weeks" (pregnancy sizing)
Bimanual exam: Uterus is often irregular with nodules
Transvaginal Ultrasound:
- Determines size and number of fibroids
- Confirms it's not an adnexal mass
- Determines if the fibroid juts into the uterine cavity
- Differentiates polyps vs. submucosal fibroids using SIS
MRI and/or KUB:
- Determines if kidneys/ureters are affected

Leiomyomata Uteri Management

Asymptomatic: Leave them alone
Symptomatic:
- For menorrhagia:
  - Medical management: COCs, progesterone (IUD, implant, oral)
  - Endometrial ablation
  - Removal of submucosal fibroids
  - Hysterectomy
- For Pain or pressure symptoms:
  - Wait for menopause or remove the uterus
- For Urinary tract symptoms:
  - Hysterectomy for obstruction/hydronephrosis
- For Infertility or recurrent pregnancy loss: Myomectomy

Differential Diagnosis of an Enlarged Uterus

Pregnancy (Most common cause)
Adenomyosis
Uterine fibroids (leiomyomata)
Hematometra (Cervical stenosis/vaginal septum)
Malignancy

Endometrial Hyperplasia

Overgrowth of proliferative endometrium due to prolonged estrogen stimulation in the absence of progesterone ("unopposed estrogen")

Endometrial Hyperplasia Prevalence

Typically perimenopausal/postmenopausal individuals, but can occur in individuals in their 30s

Endometrial Hyperplasia Risk Factors

Obesity, especially morbid obesity
Nulliparity
Early menarche/late menopause onset
Anovulation
Breast cancer/Tamoxifen use
Family history/Genetic predisposition
Smoking

Endometrial Hyperplasia Major Symptom

Abnormal Uterine Bleeding

Types of Endometrial Hyperplasia

Complex hyperplasia with atypia (most concerning)
Worry about this type for:
- Peri/postmenopausal individuals with abnormal uterine bleeding
- Individuals with significant estrogen exposure

Endometrial Hyperplasia Diagnosis

Office endometrial biopsy
Vaginal ultrasound to assess endometrial stripe thickness
Gold standard: Hysteroscopy with D&C

Endometrial Hyperplasia Management

No atypia: Add progesterone
- Repeat biopsy in 3-6 months to confirm resolution
Atypia: Refer for further evaluation
- Hysteroscopy/D&C to rule in/out cancer
- Hysterectomy (acceptable and definitive treatment)
- High-dose progestin and repeat D&C if surgical candidate is poor

EIN: Endometrial Intraepithelial Lesion

Same as Endometrial Hyperplasia with Atypia
Precancerous condition involving thickened endometrial tissue
25-40% progression to endometrial cancer if left untreated

EIN Risk Factors and Symptoms

Same as endometrial hyperplasia

EIN Treatment

Always biopsy when atypical/heavy bleeding is present
Sono is helpful but tissue is necessary
Removal via hysterectomy is preferred

Endometrial Cancer

Most frequent gynecological cancer in the US

Endometrial Cancer Etiology

Unopposed estrogen (Most common cause)
Hereditary factors: Lynch II syndrome

Endometrial Cancer Categories

Hormone-dependent (majority):
- Endometrioid, low-grade (histo grades 1,2)
- Early stage (1 or 2)
- Good prognosis
Not hormone-dependent (minority) :
- Endometroid grade III histology, papillary serous adenosquamous, and clear cell histology
- More often discovered at an advanced stage
- Poor prognosis, even when discovered early
Five-year survival rate:
- Stage 1 and 2 endometrioid endometrial cancer: 95%
- Early grade 3 endometrial cancer: 58% or worse

Endometrial Cancer Treatment

Hysterectomy
+/- Removal of tubes and ovaries
+/- Surgical staging (lymph node removal and assessment)
Low-grade cancer: Hysterectomy is usually curative

Endometriosis Definition

Benign condition where endometrial tissue grows outside the uterus
Can occur in women of reproductive age
Common in women with chronic pelvic pain

Endometriosis Occurrence

Found in more than one-third of women with chronic pelvic pain
Typically presents in women in their 30s who are nulliparous (never given birth) and infertile

Theories of Pathogenesis

Retrograde menstruation - Endometrial tissue travels through the fallopian tubes during menstruation and implants at other sites

Symptoms

Classic Triad - dysmenorrhea (painful periods), dyspareunia (painful intercourse), dyschezia (painful bowel movements)
Pain (cyclic and non-cyclic)
Infertility
Secondary dysmenorrhea (painful periods that start later in life)
Premenstrual and postmenstrual spotting (in about 20%)

Physical Exam

No specific physical findings
May include findings on recto-vaginal exam
Cul-de-sac nodularity and tenderness
Uterosacral nodularity
Tender, fixed adnexal mass
Uterus fixed and retroverted

Diagnosis

Ultrasound: Adnexal mass with internal echoes consistent with blood
Definitive diagnosis: Direct visualization through surgery (laparotomy or laparoscopy) with histologic confirmation

Pathology

Chocolate cysts (endometrial cysts) - Filled with old endometrial shedings and blood, can cause chemical peritonitis if ruptured
Adhesions - Tissue scarring and binding

Staging

A staging system exists to communicate the location of the disease
Stage is not directly related to pain frequency or severity

Management

Factors to consider: Symptom severity, extent of disease, desire for future fertility, age, and threat to GI or urinary tract

Treatment Options

Surgical: Excision or ablation of endometrial implants, may require laparoscopic surgery (or rarely, laparotomy), removal of endometriomas >3 cm
Medical:
- First line treatment (3-6 months trial): Oral contraceptive pills, progestins, aromatase inhibitors
- Second line treatment: Mirena IUD, GnRH agonists (Lupron)
- Important: Always pursue laparoscopy for accurate diagnosis and treatment alongside medical management

Hysterectomy

Most definitive surgical treatment
Laparoscopic hysterectomy with ablation or excision of all endometrial implants and adhesions
Risk of recurrence

Key Concepts

Typical patient is in their reproductive years and often sub-fertile
Classic symptom triad is dysmenorrhea, dyspareunia, and dyschezia
Stage is not related to pain frequency or severity
Minimizing menstrual flow and suppressing ovarian cycling can reduce risk and symptoms

Infertility Definition

Infertility is defined as the inability to conceive after one year of regular, unprotected intercourse.
This definition is adjusted for women over 35 years old, with diagnosis possible after 6 months of trying to conceive.
It affects 15-20% of couples in the United States.

When to Evaluate for Infertility

Evaluate couples who meet the definition of infertility.
Earlier evaluation is recommended for women over 35 years old, as fertility decreases more rapidly after this age, especially after 42.
Consider earlier evaluation for individuals with:
- History of amenorrhea or oligomenorrhea
- Suspected tubal disease, endometriosis, or Mullerian variations.
- Risk factors for ovarian insufficiency, such as prior chemotherapy/radiation, autoimmune diseases, or significant ovarian surgery.
Also consider earlier evaluation for men with risk factors including:
- History of testicular torsion/cancer, orchitis/mumps, or unsuccessful conception.

Causes of Infertility

Male factor contributes to 20% of infertility cases.
Ovarian and tubal factors are present in over 45% of cases.
Infertility is often multifactorial, meaning it involves more than one contributor.

Female Infertility Workup - Examination

Assessment includes weight, BMI, blood pressure, and signs of systemic illness like diabetes, autoimmune disorders, and metabolic syndrome..
Evaluate the thyroid for enlargement, nodules, and tenderness.
Assess the breasts for galactorrhea.
Look for signs of androgen excess, such as acne, hirsutism, or a male-patterned escutcheon.
Thorough pelvic examination is important to detect any abnormalities.

Female Infertility Workup - Testing

Along with testing, preconception counseling is crucial.
Hemoglobin A1C and fasting glucose should be checked for women with a history of diabetes or risk factors.
Genetic disorder screening should be performed as indicated.

Preconception Care

Preconception care is essential and should be initiated as soon as possible.

Male Infertility Workup

Obtain a thorough medical, surgical, and illness history.
Special attention should be paid to a history of mumps, a known cause of mumps orchitis.
Semen analysis is the primary test for male infertility.
Key parameters include total sperm number, total motility, and normal forms.

Ovarian Factor in Infertility

Can contribute to up to 40% of female infertility.
Fecundity (ability to reproduce) gradually declines around age 32, and more rapidly after age 37.
This is associated with increased FSH levels and decreased AMH and Inhibin B.

Ovarian Factor - Assessment

Consider the patient's age and evidence of disordered ovulation.
Review menstrual history.
In women over 40, a day 3 FSH level can provide insight into ovarian reserve, with a value of 13 indicating difficulty with stimulation.

Disordered Ovulation - Labs

To identify the cause of disordered ovulation, assess TSH and PRL levels.
Luteal phase progesterone levels should be checked, as high levels indicate ovulation.
A luteal phase defect refers to a shortened time between ovulation and menstruation, often due to premature involution of the corpus luteum. Treatment involves supplemental progesterone.

Infertility Treatment - Ovarian Factor

Treatment for ovarian factor infertility usually requires a referral to a specialist.
Consider quick referrals for patients over 35 years old.
Clomiphene Citrate (Clomid) is a selective estrogen receptor modulator (SERM) that blocks estrogen receptors in the hypothalamus.
This leads to increased GnRH release, stimulating FSH production, which in turn, encourages follicle recruitment and increases the likelihood of ovulation.
Side effects include over-ovulation, menopausal symptoms, and OHSS.

Metformin in Infertility Treatment

Metformin may be indicated for women with PCOS who do not ovulate with Clomiphene Citrate.
Can be used as a supplement to Clomiphene Citrate in PCOS patients to promote ovulation.
For other uses of Metformin, refer to a reproductive specialist.

Ovarian Hyperstimulation Syndrome

Occurs due to overproduction of large follicles.
Leads to increased capillary permeability in ovarian tissue, resulting in poor reabsorption and fluid buildup (ascites).
Severe OHSS can lead to hemoconcentration and a risk of clotting.

Uterine and Tubal Factors in Infertility

Common uterine issues include Asherman's syndrome, leiomyomata, and congenital Mullerian abnormalities.
Common tubal issues include prior tubal ligation/surgeries and prior infection/PID.
HSG (hysterosalpingogram) can be used to assess both uterine and tubal factors.

Mullerian Fusion Disorders

Uterine septum is the most common Mullerian fusion disorder associated with pregnancy loss.
Resection of the septum can improve delivery rates.

Hydrosalpinx

Always (99%) caused by infection.
Blockage prevents fluid drainage.
Consider immediate salpingectomy (removal of fallopian tube) and ART (assisted reproductive technology) or tubal reconstruction, requiring a referral to a specialist.

Benign Ovarian Disorders

Follicular Cyst:
- Most common type of cyst in reproductive-age women.
- Occurs due to a persistent, unovulated follicle filling with fluid or an immature follicle failing to undergo atresia.
- Often asymptomatic, found during routine examinations.
- Larger cysts can cause pelvic heaviness, vague dull pain, and menstrual irregularities.
- Diagnosis made through pelvic exams and transvaginal ultrasounds (TUS).
- Management includes expectant observation, follow-up ultrasounds, and combination oral contraceptives.
- Surgery is indicated in cases of acute pain, suspected torsion, or suspicion of malignancy.
Corpus Luteum Cyst:
- Results from intrafollicular bleeding after ovulation.
- Associated with normal endocrine function or prolonged progesterone secretion.
- Complications include acute pain and rupture with intraperitoneal bleeding.
Theca Lutein Cyst:
- Almost always bilateral and significantly enlarge the ovaries.
- Can lead to excessive fluid leakage (ascites) and hemoconcentration, increasing the risk of clotting.
Cystadenoma:
- Benign tumor of the ovarian surface epithelium.
- Can be serous (filled with pale yellow fluid) or mucinous (filled with sticky mucin).
- Mucinous tumors are often larger and multiloculated.
- Often asymptomatic, but large mucinous tumors can cause symptoms.
- Management includes surgical removal with frozen section and staging.
Tubo-Ovarian Abscess (TOA):
- Infectious disorder of the upper genital tract (PID) involving the fallopian tube and ovary.
- Often bilateral due to ascending infection.
- Symptoms include those of PID, adnexal pain and mass.
- Requires immediate surgery in cases of sepsis, signs of rupture, or when diagnosis is in question.
- Chronic complications include tubal occlusion, infertility, ectopic pregnancy, and chronic pelvic pain.
Endometrioma (Chocolate Cyst):
- Ovarian cystic mass arising from growth of ectopic endometrial tissue within the ovary.
- Typically contains thick, brown tar-like fluid.
- Often densely adherent to surrounding structures.
- Management includes surgical intervention for pain relief, exclusion of malignancy, and treatment of infertility.
Mature Cystic Teratoma (Dermoid):
- Benign neoplasm arising from a single germ cell that contains tissue from all three germ layers (ectoderm, mesoderm, and endoderm).
- Most common benign neoplasm in women younger than 35 years old.
- Symptoms include pain, commonly due to torsion.
- Management includes surgical removal.
Paraovarian Cyst or Fibroid:
- Simple epithelial-lined cyst or benign fibroid located adjacent to the ovary, often within the broad ligament.
Ovarian (Adnexal) Torsion:
- Rotation of the ovary or the ovary and fallopian tube, occluding the vascular supply.
- Most susceptible ovaries are enlarged.
- Diagnosis through adnexal mass, TUS with Doppler flow studies.
- Requires surgical emergency intervention.

Ovarian Disorders: Malignant

History suggesting a malignant ovarian mass:
- Abdominal pain, dyspepsia, bloating, increase in abdominal girth
- Early satiety, weight loss
- Fatigue
- Dyspnea (due to ascites or pleural effusion)
Physical Exam findings suggesting a malignant ovarian mass:
- Weight loss
- Pleural effusion
- Jaundice, ascites
- Abdominal distension
- Nodular or fixed pelvic mass, possibly very large
Ultrasound findings suggesting a malignant adnexal mass:
- Thick septations
- Papillary projections into the lumen of a cyst
- Intramural nodule
- Cystic and solid components
- Increased overall volume of the ovary
- Increased Doppler measurement of blood flow

Ovarian Disorders: When to Refer to a Gynecologic Oncologist

Women with a pelvic mass and at least one of the following clinical characteristics should be referred:
- Elevated CA 125 level
  - 35 in postmenopausal women
  - 200 in premenopausal women
- Ascites
- Nodular or fixed pelvic mass
- Evidence of abdominal or distant metastasis
- Family history of one or more first-degree relatives with ovarian or breast cancer

Cancer of the Ovary

Most are detected incidentally on physical exam or during pelvic imaging (Ultrasound, CT, MRI)
Most are benign, so the main goal is to exclude malignancy
Risk factors:
- Most important independent risk factor: AGE
  - Incidence increases sharply after menopause
  - Median age of onset of ovarian cancer: 63 years
- Most important personal risk factor: Strong family history of breast or ovarian cancer.
Assessment:
- Symptoms:
  - May help refine differential diagnosis
  - Assess for pregnancy – ectopic pregnancy has to be in differential if there is an adnexal mass in early pregnancy
- Imaging:
  - Transvaginal ultrasound - most commonly used
    - Size (>10cm = concerning)
    - Composition of mass (cystic + solid = concerning)
    - Presence or absence of septations, mural nodules, papillary excrescences, or free fluid in the pelvis (worrisome = thick septations, nodules, excrescences)
- Serum Marker Testing:
  - Used in conjunction with imaging:
  - CA-125 - most commonly used
    - Protein associated with epithelial ovarian malignancies
    - Also expressed at lower levels in non-malignant tissue
    - Elevation can occur in: Endometriosis, Pregnancy, PID, Non-gynecologic cancer
    - Most useful in postmenopausal women
    - Elevated in 80% of patients with epithelial ovarian cancer, but only 50% with stage 1 disease

Cancer of the Ovary: Utility of CA-125

Not useful as a screening test, even in high-risk women
Pelvic ultrasound is also not useful as a screening test
Can be useful in conjunction with other findings
More likely to represent malignancy in POSTMENOPAUSAL WOMEN
- If there is a mass and elevated CA-125 in a postmenopausal woman, this is a reason for referral to gynecologic oncology.
There are many reasons a CA-125 may be elevated in a premenopausal woman (Fibroids, endometriosis, PID, ascites of any etiology, inflammatory conditions, like; SLE, IBD)
- Because most of these occur in pre-menopausal women, this makes the CA-125 less useful.
Biomarker panels are less useful as an initial assessment tool and are a better tool for a patient who is to undergo surgery to determine if Gyn-onc is needed.
Many of these tests are still under investigation and their clinical utility is being studied.

Ovarian Cancer Risk: with Family History

For a 35 year-old woman with a single affected family member:
- Risk increases from population risk of 1.6% to 5%, lifetime.
For a woman with a BRCA1 gene mutation:
- Risk of ovarian cancer, fallopian tube cancer, or peritoneal cancer is 41-46% by age 70 years.

PCOS Overview

PCOS is a complex endocrine disorder characterized by hyperandrogenism, ovulatory dysfunction, and the presence of polycystic ovaries on ultrasound.
Though the exact cause is unknown, PCOS can cause metabolic sequelae escalating the risk of type 2 diabetes (T2DM) and cardiovascular disease.

Diagnostic Criteria and Incidence

There's no single, universally accepted definition for PCOS.
The Androgen Excess Society mandates hyperandrogenism as a necessary component for diagnosis.
Diagnosing PCOS involves excluding secondary causes like adult-onset congenital adrenal hyperplasia (CAH), hyperprolactinemia, and androgen-secreting neoplasms.
The estimated incidence of PCOS is approximately 10-13%.

Etiology and Pathophysiology

Hyperinsulinemia and high androgen levels in PCOS patients can lead to decreased sex hormone-binding globulin (SHBG) levels, resulting in increased bioavailability of circulating androgens.
Increased androgen levels can further stimulate androgen production in both the adrenal gland and the ovary.

Clinical Manifestations

Menstrual Dysfunction:
- Amenorrhea or oligomenorrhea (varying with age)
- Menorrhagia
Infertility:
- Reduced fertility due to ovulatory dysfunction.
Skin Disorders (Androgen Excess Related):
- Hirsutism: Excessive hair growth due to high androgens.
- Acne: Inflammation of the hair follicles, often triggered by increased androgens.
- Acanthosis Nigricans: Darkening and thickening of skin, particularly in skin folds.
Increased Risk of Insulin Resistance and Associated Disorders:
- Metabolic Syndrome: A cluster of factors including abdominal obesity, high blood pressure, high blood sugar, and abnormal cholesterol levels.
- Nonalcoholic Fatty Liver Disease: Fat accumulation in the liver unrelated to alcohol consumption.
Long-Term Metabolic Sequelae:
- T2DM: Increased risk due to insulin resistance.
- Cardiovascular Disease: Increased risk due to multiple risk factors.
Endometrial Cancer:
- Increased risk due to chronic anovulation and unopposed estrogen exposure.
Other:
- Chronic anovulation
- Centripetal obesity (fat accumulation around the waist)
- Increased risk of diabetes (but the strength of this association remains debated).

Suggested Evaluation for PCOS

Hormonal Assessment:
- Thyroid-stimulating hormone (TSH)
- Prolactin (PRL)
- Follicle-stimulating hormone (FSH)
- 17-hydroxyprogesterone (17-OHP)
- Testosterone
- Cholesterol
Imaging:
- Vaginal ultrasound to assess the endometrium and ovaries.
Other Assessments:
- Body Mass Index (BMI) and waist circumference to assess body fat distribution.
- Evaluate for signs of hyperandrogenism and insulin resistance.
- Document biochemical hyperandrogenemia.
- Perform a 2-hour oral glucose tolerance test (including fasting glucose).
- Assess fasting lipid and lipoprotein levels.
- Confirm presence of polycystic ovaries on ultrasound.
- Identify any endometrial abnormalities.

Treatment: Menstrual Irregularities (Not Attempting Conception)

Combined Hormonal Contraceptives (COCs):
- Prevent unopposed estrogen exposure.
- Increase SHBG levels, reducing the effects of androgens.
Progestins:
- Aim to avoid unopposed estrogen stimulation.
- COCs often provide more benefit due to their impact on binding globulins.
Insulin-Sensitizing Agents: Metformin
- Increase insulin sensitivity, reducing insulin levels.
- Lower circulating androgens and increase SHBG levels.
- Enhance glucose tolerance.

Treatment: Reducing CVD and Diabetes Risk (Not Attempting Conception)

Lifestyle Modifications:
- Weight management
- Healthy diet
- Regular exercise
Insulin-Sensitizing Agents:
- Metformin
Diabetes Prevention Program:
- Metformin can delay the development of DM in high-risk individuals with impaired glucose tolerance.

Treatment of Hirsutism

Hirsutism is a common concern for PCOS patients, but there's no established primary treatment.
Medical methods can often improve hirsutism symptoms.

Ovulation Induction

Letrozole (Preferred First Line):
- Aromatase inhibitor, converting androgens to estrogens.
- Increases FSH and LH levels, stimulating the development of a single follicle in the ovary.
- Typically prescribed for 5 days during the follicular phase.
- Ovulation is confirmed by elevated progesterone levels in the luteal phase.
Clomiphene Citrate (CC):
- Selective estrogen receptor modulator (SERM).
- Blocks estrogen receptors in the hypothalamus and pituitary, preventing negative feedback.
- Sustained FSH and LH stimulation of the ovaries, increasing the likelihood of a dominant follicle.
Combination Therapies:
- Metformin + CC may also be employed.

Referral

For complex cases or fertility concerns, referral to a Reproductive Endocrinology and Infertility (REI) specialist is recommended.

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This quiz explores the definitions and classifications of abnormal menstruation, including conditions such as amenorrhea and dysmenorrhea. It also examines the common causes of primary amenorrhea, detailing ovarian, uterine, and hypothalamic factors. Test your understanding of these important medical concepts.