Primary Amenorrhea — MCQs
At what age is delayed puberty diagnosed in girls if they have not developed any secondary sexual characteristics?
A girl presents with primary amenorrhea, grade V thelarche (mature breast), grade II pubarche (sparse growth of pubic hair) and no axillary hair. Likely diagnosis is:
35 yr old with 4 months amenorrhea with increased FSH, decreased estrogen. What is the diagnosis?
Which of the following is not a cause of secondary amenorrhea?
A mother brought her 16-year-old daughter to Gynaecology OPD with a complaint of not attaining menarche. She gives a history of cyclic abdominal pain. On further examination, a midline abdominal swelling is seen. Per rectal examination reveals a bulging mass in the vagina. Which of the following conditions is most likely responsible for these findings?
An 18-year-old girl presents with primary amenorrhoea and gives a history of cyclical colicky abdominal pain. The most probable diagnosis is
A 20-year-old married woman anxious to get pregnant has cyclical cramps and sharp lower abdominal pain which lasts for 3 days starting from the day of her menstrual flow. Her menstrual periods are regular but heavy. On clinical examination, her pelvis is normal. The most probable diagnosis is
A 28 year old woman develops amenorrhoea after having dilatation and curettage. The most likely diagnosis is :
Primary Dysmenorrhoea can be treated by which of the following? 1. Antiprostaglandin 2. Cyclic combined estrogen and progesterone preparations 3. Pre-sacral neurectomy 4. Uterine curettage
Delayed puberty is seen in -
Primary Amenorrhea Indian Medical PG Practice Questions and MCQs
Question 1: At what age is delayed puberty diagnosed in girls if they have not developed any secondary sexual characteristics?
- A. 13 years (Correct Answer)
- B. 18 years
- C. 12 years
- D. 16 years
Explanation: ***Correct: 13 years*** - In girls, **delayed puberty** is diagnosed when there are no signs of **breast development (thelarche) by age 13 years** - This represents the upper limit of normal for the onset of secondary sexual characteristics in girls - Absence of any pubertal development by this age warrants evaluation for underlying causes (e.g., hypogonadism, constitutional delay, chronic illness) - Based on **Tanner staging**, breast development typically begins between ages 8-13 years *Incorrect: 18 years* - This age is well beyond the diagnostic threshold for delayed puberty - By 18 years, puberty should be complete in normal girls - Waiting until this age would delay diagnosis and treatment of potentially reversible causes *Incorrect: 12 years* - 12 years is still within the **normal range for onset of puberty** in girls - Many girls normally begin pubertal development at or after age 12 - Diagnosing delayed puberty at this age would be premature and lead to unnecessary investigations *Incorrect: 16 years* - 16 years is the diagnostic age specifically for **absence of menarche** (primary amenorrhea), not for absence of all secondary sexual characteristics - If secondary sexual characteristics are absent by age 16, this indicates severe delay that should have been investigated years earlier (by age 13)
Question 2: A girl presents with primary amenorrhea, grade V thelarche (mature breast), grade II pubarche (sparse growth of pubic hair) and no axillary hair. Likely diagnosis is:
- A. Turner syndrome
- B. Testicular feminization (Correct Answer)
- C. Gonadal dysgenesis
- D. Mullerian agenesis
Explanation: Androgen Insensitivity Syndrome (also known as testicular feminization) is characterized by a phenotype where primary amenorrhea occurs in a girl with mature (Grade V) breast development but sparse or absent pubic and axillary hair (Grade II pubarche). In this condition, androgens are produced but their receptors are non-functional, leading to normal breast development through the peripheral conversion of androgens to estrogens while inhibiting androgen-dependent hair growth [3]. *Turner syndrome* - Characterized by gonadal dysgenesis [1], leading to primary amenorrhea and absent or rudimentary breast development (grade I thelarche). Patients typically present with characteristic physical features such as short stature [1], webbed neck, and coarctation of the aorta, which are not mentioned here. *Gonadal dysgenesis* - This is a broader term for abnormal development of the gonads [2], often leading to primary amenorrhea and lack of secondary sexual characteristics [1]. Unlike the described case, individuals with gonadal dysgenesis would not have mature breast development. *Mullerian agenesis* - Presents with primary amenorrhea due to the absence or hypoplasia of the uterus and upper vagina, but normal ovarian function. Patients with Mullerian agenesis would typically have normal breast development and normal pubic and axillary hair growth, as their androgen receptors are functional.
Question 3: 35 yr old with 4 months amenorrhea with increased FSH, decreased estrogen. What is the diagnosis?
- A. Premature ovarian failure (Correct Answer)
- B. Pituitary dysfunction
- C. Hypothalamic dysfunction
- D. Polycystic Ovary Syndrome
Explanation: ***Premature ovarian failure*** - The combination of **amenorrhea** for 4 months in a 35-year-old, with **increased FSH** and **decreased estrogen**, is characteristic of premature ovarian failure, indicating the ovaries are no longer responding to FSH stimulation. - This condition signifies the cessation of ovarian function before the age of 40, leading to menopausal symptoms and infertility. *Pituitary dysfunction* - Pituitary dysfunction might lead to **decreased FSH** (hypogonadotropic hypogonadism) due to insufficient stimulation of the ovaries, not increased FSH. - In cases of pituitary adenomas, increased prolactin can cause amenorrhea, but FSH would not be elevated in the manner described. *Hypothalamic dysfunction* - Hypothalamic dysfunction, such as **functional hypothalamic amenorrhea**, typically presents with **low or normal FSH and LH levels** (hypogonadotropic hypogonadism) due to reduced GnRH pulsatility. - This condition is often associated with stress, excessive exercise, or low body weight, and would not cause elevated FSH as seen here. *Polycystic Ovary Syndrome* - **Polycystic Ovary Syndrome (PCOS)** is characterized by **anovulation**, resulting in amenorrhea or oligomenorrhea, but typically involves **elevated androgens** and a **high LH-to-FSH ratio**, with FSH levels generally normal or low, and estrogen levels often normal or slightly elevated. - It would not present with simultaneously high FSH and low estrogen, which points to ovarian failure rather than anovulation with intact ovarian reserve.
Question 4: Which of the following is not a cause of secondary amenorrhea?
- A. Kallman syndrome (Correct Answer)
- B. Asherman's syndrome
- C. Sheehan's syndrome
- D. Turner's mosaic
Explanation: ***Kallman syndrome*** - This is a cause of **primary amenorrhea** because it involves congenital **GnRH deficiency**, preventing the onset of puberty and menstruation from the beginning. - Patients typically present with failure of pubertal development and **anosmia** (inability to smell). *Asherman's syndrome* - Characterized by **intrauterine adhesions** or scarring, often following uterine surgeries like D&C. - These adhesions can prevent the proper shedding of the endometrium, leading to **secondary amenorrhea** after previously established menses. *Sheehan's syndrome* - Occurs due to **ischemic necrosis of the pituitary gland** following severe postpartum hemorrhage, typically presenting with failure of lactation, fatigue, and **secondary amenorrhea**. - The pituitary damage leads to **deficiency of multiple pituitary hormones**, including FSH and LH. *Turner's mosaic* - While classic **Turner syndrome (45,XO)** is a common cause of primary amenorrhea and gonadal dysgenesis, **Turner's mosaic** (e.g., 45,XO/46,XX) can sometimes result in variable ovarian function. - In some mosaic cases, individuals may experience **menarche** and then develop premature ovarian failure, leading to **secondary amenorrhea**.
Question 5: A mother brought her 16-year-old daughter to Gynaecology OPD with a complaint of not attaining menarche. She gives a history of cyclic abdominal pain. On further examination, a midline abdominal swelling is seen. Per rectal examination reveals a bulging mass in the vagina. Which of the following conditions is most likely responsible for these findings?
- A. Vaginal agenesis
- B. Transverse vaginal septum
- C. Imperforate hymen (Correct Answer)
- D. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome
Explanation: ***Imperforate hymen*** - An **imperforate hymen** obstructs the outflow of menstrual blood, leading to its accumulation in the vagina (**hematocolpos**) and uterus (**hematometra**), causing **cyclic abdominal pain** and a bulging mass (due to accumulated blood) in the vagina. - The patient presents with **primary amenorrhea** (not having attained menarche) and cyclical abdominal pain caused by the inability of menstrual blood to exit the body. *Transverse vaginal septum* - A **transverse vaginal septum** can also cause primary amenorrhea and cyclic abdominal pain due to obstruction of menstrual flow. However, it is a less common cause than an imperforate hymen. - While it can lead to hematocolpos, the characteristic bulging mass on per rectal examination is more strongly associated with an imperforate hymen presenting at the vaginal introitus. *Vaginal agenesis* - **Vaginal agenesis** (complete absence of the vagina) would present with primary amenorrhea, but there would be no cyclic abdominal pain if the uterus is also absent or rudimentary. If a uterus is present, there would be no accumulation of blood in the vagina or a bulging mass per rectum as there is no vaginal canal. - This condition is typically associated with a rudimentary or absent uterus, leading to an inability to menstruate rather than obstructed flow. *Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome* - **MRKH syndrome** is characterized by congenital aplasia of the uterus and the upper two-thirds of the vagina, with normal ovaries and external genitalia. - Patients present with **primary amenorrhea** but typically do not experience **cyclic abdominal pain** or a bulging vaginal mass because there is no functional uterus to produce menstrual blood or a vaginal canal for blood accumulation.
Question 6: An 18-year-old girl presents with primary amenorrhoea and gives a history of cyclical colicky abdominal pain. The most probable diagnosis is
- A. Encysted tuberculosis
- B. Haematocolpos (Correct Answer)
- C. Full bladder
- D. Ovarian cyst
Explanation: ***Haematocolpos*** - **Primary amenorrhoea** combined with **cyclical colicky abdominal pain** strongly suggests an outflow tract obstruction, leading to the accumulation of menstrual blood. - **Haematocolpos** is the accumulation of menstrual blood in the vagina caused by an imperforate hymen or other anomalies, leading to distension and pain. *Encysted tuberculosis* - While tuberculosis can affect the reproductive system, it typically presents with **chronic abdominal pain**, weight loss, and infertility, not primary amenorrhoea with cyclical pain. - **Encysted tuberculosis** would not directly cause the cyclical colicky pain related to menstrual flow blockage. *Full bladder* - A **full bladder** can cause suprapubic discomfort but generally doesn't present as primary amenorrhoea or cyclical colicky abdominal pain. - This condition is easily resolved by urination and is not a chronic, cyclical issue. *Ovarian cyst* - **Ovarian cysts** can cause abdominal pain, which may be cyclical, but they do not cause primary amenorrhoea as the problem is with ovarian function or morphology, not menstrual outflow. - The pain is usually dull, aching, or sharp upon rupture, distinct from the **colicky pain** associated with retained menstrual blood.
Question 7: A 20-year-old married woman anxious to get pregnant has cyclical cramps and sharp lower abdominal pain which lasts for 3 days starting from the day of her menstrual flow. Her menstrual periods are regular but heavy. On clinical examination, her pelvis is normal. The most probable diagnosis is
- A. Primary dysmenorrhoea (Correct Answer)
- B. Adenomyosis
- C. Uterine leiomyomata
- D. Endometriosis
Explanation: ***Primary dysmenorrhoea*** - This is the **most probable diagnosis** given the classic presentation of **cyclical cramping pain starting on day 1 of menstruation** lasting 3 days. - Primary dysmenorrhea is caused by **excessive prostaglandin production** from the endometrium, leading to uterine cramping and can be associated with **heavy menstrual bleeding**. - The **normal pelvic examination** is a key feature distinguishing primary from secondary causes of dysmenorrhea. - Typically affects young women in their **late teens to early 20s**, shortly after menarche when ovulatory cycles are established. *Endometriosis* - While endometriosis causes cyclical pain, the pain typically begins **1-2 days before menstruation** rather than starting precisely on day 1. - Associated symptoms often include **dyspareunia, dyschezia, and infertility**, which are not mentioned in this case. - Though pelvic examination can be normal in early endometriosis, the **pain timing pattern** does not fit the classic presentation. *Adenomyosis* - Characterized by **endometrial tissue within the myometrium**, typically presents with a **diffusely enlarged, tender, boggy uterus** on examination. - More common in women over 30 years, particularly those with **previous pregnancies**. - The patient's **normal pelvic examination** and young age make adenomyosis unlikely. *Uterine leiomyomata* - These **benign fibroids** typically cause heavy menstrual bleeding with **pressure symptoms** rather than severe cyclical cramping pain. - Usually result in an **irregularly enlarged uterus** on pelvic examination. - The patient's **normal pelvic examination** excludes this diagnosis.
Question 8: A 28 year old woman develops amenorrhoea after having dilatation and curettage. The most likely diagnosis is :
- A. Kallman syndrome
- B. Turner syndrome
- C. Asherman syndrome (Correct Answer)
- D. Anorexia nervosa
Explanation: ***Asherman syndrome*** - It is characterized by the formation of **intrauterine adhesions** or **synechiae** that occur due to trauma to the endometrial lining, most commonly following a **D&C procedure**. - These adhesions can lead to **amenorrhea**, hypomenorrhea, infertility, and recurrent pregnancy loss due to the obstruction of the uterine cavity. *Kallman syndrome* - This is a **congenital hypogonadotropic hypogonadism** characterized by a deficiency in GnRH production and an associated **anosmia** (loss of smell), neither of which are suggested by the clinical presentation. - Patients typically present with **primary amenorrhea** and delayed puberty, not secondary amenorrhea following a D&C. *Turner syndrome* - A **chromosomal disorder (45, XO)** leading to **gonadal dysgenesis** and ovarian failure. - It typically presents with **primary amenorrhea**, short stature, webbed neck, and other distinct physical features, which are not mentioned here. *Anorexia nervosa* - This is an **eating disorder** associated with severe caloric restriction and low body weight. - It can cause **hypothalamic amenorrhea** due to impaired GnRH pulsatility but is usually accompanied by significant weight loss and psychological symptoms, not typically heralded by a D&C.
Question 9: Primary Dysmenorrhoea can be treated by which of the following? 1. Antiprostaglandin 2. Cyclic combined estrogen and progesterone preparations 3. Pre-sacral neurectomy 4. Uterine curettage
- A. 1, 2, 3 and 4
- B. 1, 2 and 4
- C. 2, 3 and 4
- D. 1, 2 and 3 (Correct Answer)
Explanation: ***1, 2 and 3*** - **Antiprostaglandins (NSAIDs)** are the first-line treatment for primary dysmenorrhea as they inhibit prostaglandin synthesis, reducing uterine contractions and pain. - **Cyclic combined estrogen and progesterone preparations (oral contraceptives)** are second-line therapy that suppress ovulation, leading to a thinner endometrium and reduced prostaglandin production, thereby alleviating dysmenorrhea. - **Pre-sacral neurectomy** is a surgical procedure that may be considered for severe, refractory primary dysmenorrhea that has failed medical management, though it is more commonly used for secondary dysmenorrhea and chronic pelvic pain. *1, 2, 3 and 4* - This option incorrectly includes **uterine curettage**, which is not a treatment for primary dysmenorrhea. - Uterine curettage is a diagnostic or therapeutic procedure for conditions like abnormal uterine bleeding or retained products of conception, not for menstrual pain management. *1, 2 and 4* - This option incorrectly includes **uterine curettage** while excluding pre-sacral neurectomy. - Curettage has no role in primary dysmenorrhea treatment, whereas the other interventions target the underlying pathophysiology. *2, 3 and 4* - This option incorrectly excludes **antiprostaglandins (NSAIDs)**, which are the cornerstone first-line therapy for primary dysmenorrhea. - It also incorrectly includes uterine curettage, which has no role in dysmenorrhea management.
Question 10: Delayed puberty is seen in -
- A. Hypothyroidism
- B. Turner's syndrome
- C. Chronic disease
- D. All of the options (Correct Answer)
Explanation: ***All of the options*** - Delayed puberty can be a symptom of multiple underlying conditions including **hypothyroidism**, **Turner's syndrome**, and **chronic diseases**. - All these conditions can interfere with the normal hormonal and developmental pathways required for timely pubertal onset. *Hypothyroidism* - **Thyroid hormones** are crucial for normal growth and development, including sexual maturation. - Insufficient thyroid hormone levels can lead to a general slowing of metabolic processes and thus **delayed puberty**. *Turner's syndrome* - This is a chromosomal disorder (45,XO) primarily affecting females, characterized by the absence of one X chromosome. - It often results in **gonadal dysgenesis** (poorly developed ovaries), leading to **primary ovarian failure** and a failure to produce sex hormones necessary for puberty. *Chronic disease* - Many chronic illnesses, such as **inflammatory bowel disease**, **cystic fibrosis**, **renal failure**, or **diabetes mellitus**, can cause **delayed puberty**. - This is often due to the overall physiological stress, chronic inflammation, nutritional deficiencies, and altered hormone metabolism associated with long-term illness.
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