Menstrual Disorders — MCQs
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?
In a woman complaining of AUB following image was seen in endoscopic examination of uterus. What will be the diagnosis?
A 16-year-old girl is in your office for a preparticipation sports examination. She plans to play soccer in the fall, and needs her form filled out. Which of the following history or physical examination findings is usually considered a contraindication to playing contact sports?
A child with Down syndrome is typically mentally retarded. Which of the following cytogenetic abnormalities is NOT a cause of Down syndrome?
Which of the following conditions is NOT associated with joint hyperextensibility?
All of the following are associated with Down syndrome except?
Which one of the following statements is NOT true regarding Noonan's syndrome?
Unconjugated hyperbilirubinemia in neonates is seen in all of the following conditions except?
Aspirin use is associated with which of the following conditions?
Menstrual Disorders Indian Medical PG Practice Questions and MCQs
Question 1: 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 2: 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 3: In a woman complaining of AUB following image was seen in endoscopic examination of uterus. What will be the diagnosis?
- A. Leiomyoma (Correct Answer)
- B. Adenomyosis
- C. Ovarian neoplasm
- D. Carcinoma of uterus
Explanation: ***Leiomyoma*** - The image shows **well-circumscribed, smooth, rounded masses protruding into the uterine cavity**, which are characteristic of **submucous (intracavitary) leiomyomas (fibroids)** seen on hysteroscopy. - Submucous leiomyomas are benign smooth muscle tumors that project into the endometrial cavity and commonly cause **abnormal uterine bleeding (AUB)** due to increased endometrial surface area, distortion of the endometrial cavity, ulceration of overlying endometrium, and interference with normal uterine contractility. - On **hysteroscopic examination**, they appear as firm, pale, smooth-surfaced masses with overlying endometrium. *Adenomyosis* - Adenomyosis involves the presence of **endometrial tissue within the myometrium**, leading to diffuse uterine enlargement. - On hysteroscopy, it may show a **globally irregular endometrial surface** with small endometrial openings or cystic spaces, but not the discrete, well-circumscribed protruding masses seen in the image. - While it can cause AUB and dysmenorrhea, the appearance is distinctly different from submucous leiomyomas. *Ovarian neoplasm* - Ovarian neoplasms originate in the **ovaries**, which are separate from the uterus. - **Hysteroscopic examination** visualizes only the **endometrial cavity** and cannot directly visualize ovarian pathology. - Ovarian masses do not protrude into the uterine cavity. *Carcinoma of uterus* - Endometrial carcinoma typically presents on hysteroscopy as **irregular, friable, ulcerative, or fungating lesions** with abnormal vascularity and易出血 (easy bleeding). - The **smooth, well-defined, and rounded appearance** with intact overlying mucosa in the image is characteristic of benign leiomyomas, not malignant growths. - Uterine sarcomas are rare and would show more irregular, infiltrative features rather than well-circumscribed masses.
Question 4: A 16-year-old girl is in your office for a preparticipation sports examination. She plans to play soccer in the fall, and needs her form filled out. Which of the following history or physical examination findings is usually considered a contraindication to playing contact sports?
- A. Congenital heart disease, repaired
- B. Obesity
- C. Absence of a single ovary
- D. Absence of a single eye (Correct Answer)
Explanation: **Explanation:** The primary goal of a preparticipation physical evaluation (PPE) is to identify conditions that predispose an athlete to injury or sudden death. In the context of contact or collision sports (like soccer), the **absence of a single paired organ** is a critical consideration. **Why Option D is Correct:** The **absence of a single eye** (or a functional loss of vision in one eye) is considered a contraindication to contact sports because the risk of injury to the remaining eye is high. If the "good" eye is injured, the patient faces permanent, total blindness. While some guidelines allow participation if the athlete wears high-quality protective eyewear (polycarbonate lenses), traditional teaching for exams like NEET-PG classifies a single eye as a contraindication for high-impact contact sports. **Analysis of Incorrect Options:** * **A. Congenital heart disease (repaired):** Most children with successfully repaired CHD (e.g., ASD or VSD) without residual pulmonary hypertension or arrhythmias can participate in sports. * **B. Obesity:** Obesity is not a contraindication; in fact, sports participation is actively encouraged as part of weight management, provided there are no underlying cardiovascular risks. * **C. Absence of a single ovary:** Unlike the eyes or kidneys, the loss of a single ovary does not pose a significant risk to life or essential function, as the remaining ovary is well-protected within the pelvic cavity and maintains hormonal/reproductive function. **High-Yield Clinical Pearls for NEET-PG:** * **Single Kidney:** Previously a contraindication, but current AAP guidelines allow participation in contact sports if the athlete is informed of the risks and uses protective padding. * **Atlantoaxial Instability:** A classic contraindication for contact sports in patients with **Down Syndrome**. * **Hypertrophic Cardiomyopathy (HCM):** The most common cause of sudden cardiac death in young athletes; it is an absolute contraindication to competitive sports. * **Acute Splenomegaly (e.g., Infectious Mononucleosis):** Contraindication due to the risk of splenic rupture; athletes must wait at least 3–4 weeks before returning to play.
Question 5: A child with Down syndrome is typically mentally retarded. Which of the following cytogenetic abnormalities is NOT a cause of Down syndrome?
- A. Deleted chromosome 21 (Correct Answer)
- B. Trisomy 21
- C. Robertsonian translocation
- D. Mosaicism
Explanation: **Explanation:** Down syndrome (Trisomy 21) is caused by an **excess of genetic material** from chromosome 21. Therefore, a **deleted chromosome 21 (Option A)** would result in monosomy or partial monosomy, which does not cause Down syndrome; in fact, complete autosomal monosomies are generally incompatible with life. **Analysis of Options:** * **Trisomy 21 (Nondisjunction):** The most common cause (approx. 95%). It usually occurs due to meiotic error, most frequently during maternal Meiosis I. Risk increases significantly with advanced maternal age. * **Robertsonian Translocation:** Occurs in about 3–4% of cases. The extra long arm of chromosome 21 is attached to another acrocentric chromosome (usually 14 or 22). This is the only form that can be inherited from a carrier parent, necessitating parental karyotyping. * **Mosaicism:** Occurs in 1–2% of cases. It results from mitotic nondisjunction after fertilization, leading to two cell lines (one normal, one trisomic). These patients often have a milder phenotype. **NEET-PG High-Yield Pearls:** * **Most common cause:** Meiotic nondisjunction (95%). * **Recurrence risk:** ~1% for Trisomy 21; however, if a parent is a **14;21 translocation carrier**, the risk is ~10-15% (maternal) or ~2-3% (paternal). If a parent has a **21;21 translocation**, the recurrence risk is **100%**. * **Screening:** First-trimester screening includes Dual Marker (PAPP-A and β-hCG) and Ultrasound (Nuchal Translucency). * **Quadruple Test:** Low AFP, Low Estriol, **High hCG, High Inhibin A** (Mnemonic: **HI**gh for **H**CG and **I**nhibin).
Question 6: Which of the following conditions is NOT associated with joint hyperextensibility?
- A. Stickler Syndrome
- B. Hyperlysinemia
- C. Fragile X syndrome
- D. Hurler's syndrome (Correct Answer)
Explanation: **Explanation:** The correct answer is **Hurler’s Syndrome (Mucopolysaccharidosis Type I)**. Unlike many connective tissue disorders that present with joint laxity, Hurler’s syndrome is characterized by **joint contractures and stiffness**. This occurs due to the progressive accumulation of glycosaminoglycans (GAGs) in the periarticular soft tissues, tendons, and ligaments, leading to restricted mobility and the classic "claw hand" deformity. **Analysis of Options:** * **Stickler Syndrome:** A connective tissue disorder caused by collagen mutations (Type II and XI). It presents with a triad of high myopia (leading to retinal detachment), hearing loss, and **joint hypermobility** (which often progresses to early-onset osteoarthritis). * **Hyperlysinemia:** An autosomal recessive metabolic disorder. Elevated lysine levels interfere with the cross-linking of collagen fibers, resulting in muscle hypotonia and **joint laxity**. * **Fragile X Syndrome:** The most common cause of inherited intellectual disability. Clinical features include a long face, large ears, macroorchidism, and significant **joint hyperextensibility** due to underlying connective tissue dysplasia. **High-Yield Clinical Pearls for NEET-PG:** * **The "Rule of Thumb":** Most Mucopolysaccharidoses (MPS) present with stiff joints, **EXCEPT for Morquio Syndrome (MPS IV)**, which is uniquely associated with significant joint laxity and ligamentous hypermobility. * **Differential for Joint Hypermobility:** Always consider Ehlers-Danlos Syndrome, Marfan Syndrome, Osteogenesis Imperfecta, and Homocystinuria. * **Hurler vs. Hunter:** Hurler (MPS I) has corneal clouding; Hunter (MPS II) does not ("The Hunter needs clear eyes to see the target"). Both typically feature joint stiffness.
Question 7: All of the following are associated with Down syndrome except?
- A. Sensory hearing loss (Correct Answer)
- B. VSD
- C. Hypothyroidism
- D. Duodenal atresia
Explanation: **Explanation:** The correct answer is **A (Sensory hearing loss)**. In Down syndrome (Trisomy 21), hearing impairment is extremely common (up to 75% of cases), but it is primarily **Conductive hearing loss**. This is due to craniofacial abnormalities leading to narrow external auditory canals and a high incidence of chronic otitis media with effusion (serous otitis media). While sensorineural hearing loss can occur, conductive loss is the hallmark association. **Analysis of other options:** * **B. VSD (Ventricular Septal Defect):** Congenital heart disease (CHD) occurs in 40-50% of Down syndrome patients. While **Endocardial Cushion Defect (AVSD)** is the most characteristic, VSD is the second most common cardiac anomaly in these children. * **C. Hypothyroidism:** Endocrine disorders are frequent in Down syndrome. Both congenital and acquired (autoimmune) hypothyroidism occur at a much higher rate than in the general population, necessitating regular thyroid function screening. * **D. Duodenal Atresia:** Down syndrome is the most common chromosomal association with duodenal atresia (the "double bubble" sign). Approximately 30% of infants with duodenal atresia have Trisomy 21. **High-Yield Clinical Pearls for NEET-PG:** * **Most common CHD:** Atrioventricular Septal Defect (AVSD). * **Most common GI anomaly:** Duodenal atresia (though Hirschsprung disease is also associated). * **Hematological association:** Increased risk of **AMKL** (Acute Megakaryoblastic Leukemia) before age 3 and **ALL** (Acute Lymphoblastic Leukemia) after age 3. * **Neurological:** Early-onset Alzheimer’s disease (due to APP gene on Chromosome 21) and Atlanto-axial instability. * **Screening:** Annual thyroid function tests and hearing evaluations are mandatory.
Question 8: Which one of the following statements is NOT true regarding Noonan's syndrome?
- A. Affects males and females
- B. Short stature
- C. Chromosomal abnormality (Correct Answer)
- D. Congenital heart disease - ASD
Explanation: **Explanation:** Noonan’s syndrome is often referred to as the **"Male Turner Syndrome"** due to its phenotypic similarities with Turner syndrome. However, the fundamental difference lies in its genetic basis. **1. Why "Chromosomal abnormality" is NOT true:** Noonan’s syndrome is a **single-gene (monogenic) disorder**, not a chromosomal one. It is an **Autosomal Dominant** condition caused by mutations in genes belonging to the RAS-MAPK pathway (most commonly the **PTPN11 gene** on chromosome 12). Unlike Turner syndrome (45,XO), patients with Noonan’s syndrome typically have a **normal karyotype** (46,XY or 46,XX). **2. Analysis of other options:** * **Affects males and females:** Since it is autosomal dominant and not linked to sex chromosomes, it affects both genders equally. * **Short stature:** This is a hallmark clinical feature, often accompanied by a webbed neck and chest deformities (pectus excavatum/carinatum). * **Congenital heart disease:** Cardiac anomalies are present in about 80% of cases. While **Pulmonary Stenosis** is the most common lesion, **Atrial Septal Defect (ASD)** and Hypertrophic Cardiomyopathy are also frequently associated. **High-Yield Clinical Pearls for NEET-PG:** * **Most common gene mutation:** *PTPN11* (50% of cases). * **Cardiac triad:** Pulmonary valve stenosis, ASD, and Hypertrophic Cardiomyopathy (HCM). * **Facial features:** Low-set ears, hypertelorism (wide-spaced eyes), and downward-slanting palpebral fissures. * **Differentiating factor:** Unlike Turner syndrome, Noonan’s syndrome patients often have **normal fertility** (though males may have cryptorchidism).
Question 9: Unconjugated hyperbilirubinemia in neonates is seen in all of the following conditions except?
- A. Physiological jaundice
- B. Dubin-Johnson syndrome (Correct Answer)
- C. Hypothyroidism
- D. Hemolytic anemia
Explanation: **Explanation:** The core of this question lies in distinguishing between **unconjugated (indirect)** and **conjugated (direct)** hyperbilirubinemia. **1. Why Dubin-Johnson Syndrome is the Correct Answer:** Dubin-Johnson syndrome is an autosomal recessive disorder caused by a mutation in the **MRP2 gene**, which leads to a defect in the transport of conjugated bilirubin from hepatocytes into the bile canaliculi. Therefore, it results in **conjugated hyperbilirubinemia**. A classic diagnostic feature is a "black liver" due to the accumulation of epinephrine metabolites. **2. Analysis of Incorrect Options (Causes of Unconjugated Hyperbilirubinemia):** * **Physiological Jaundice:** Occurs due to immature glucuronyl transferase activity and increased RBC turnover, leading to a rise in unconjugated bilirubin. * **Hypothyroidism:** Thyroid hormones are essential for the induction of the enzyme **UDP-glucuronosyltransferase (UGT)**. Deficiency slows down the conjugation process, causing prolonged unconjugated jaundice. * **Hemolytic Anemia:** Conditions like Rh incompatibility or G6PD deficiency cause excessive breakdown of RBCs, overwhelming the liver's conjugation capacity with heme-derived indirect bilirubin. **NEET-PG High-Yield Pearls:** * **Crigler-Najjar & Gilbert Syndromes:** These are the primary genetic causes of **unconjugated** hyperbilirubinemia (defect in UGT1A1 enzyme). * **Dubin-Johnson vs. Rotor Syndrome:** Both cause conjugated hyperbilirubinemia. Dubin-Johnson features a black liver and abnormal coproporphyrin I levels; Rotor syndrome does not have liver pigmentation. * **Rule of Thumb:** If the pathology is *before* or *at* the level of conjugation (hemolysis, uptake, or enzyme defect), it is unconjugated. If the pathology is *after* conjugation (excretion or obstruction), it is conjugated.
Question 10: Aspirin use is associated with which of the following conditions?
- A. Reye's Syndrome (Correct Answer)
- B. Sjogren Syndrome
- C. Reiter Syndrome
- D. None of the above
Explanation: **Explanation:** **Reye’s Syndrome** is a rare but life-threatening condition characterized by **acute encephalopathy** and **fatty degeneration of the liver**. The correct answer is **A** because there is a strong epidemiological association between the administration of **aspirin (salicylates)** during a viral prodrome (most commonly **Influenza B** or **Varicella**) and the development of this syndrome. The underlying pathophysiology involves **mitochondrial dysfunction**, leading to impaired fatty acid oxidation, hyperammonemia, and cerebral edema. **Analysis of Incorrect Options:** * **B. Sjogren Syndrome:** This is a chronic autoimmune disorder characterized by lymphocytic infiltration of exocrine glands, leading to dry eyes (keratoconjunctivitis sicca) and dry mouth (xerostomia). It is not triggered by aspirin. * **C. Reiter Syndrome (Reactive Arthritis):** This is a triad of arthritis, urethritis, and conjunctivitis ("can't see, can't pee, can't climb a tree") that typically follows a gastrointestinal or genitourinary infection (e.g., *Chlamydia* or *Salmonella*). Aspirin is not an etiological factor. **High-Yield Clinical Pearls for NEET-PG:** * **Biopsy Finding:** The liver biopsy in Reye’s Syndrome shows **microvesicular steatosis** (small fat droplets) without significant inflammation or necrosis. * **Laboratory Markers:** Look for elevated serum ammonia, prolonged Prothrombin Time (PT), and elevated AST/ALT, while bilirubin levels usually remain normal. * **Exception:** Aspirin is generally contraindicated in children, **except** in specific conditions like **Kawasaki Disease** and **Juvenile Idiopathic Arthritis (JIA)**, where its benefits outweigh the risks under strict supervision. * **Management:** Primarily supportive, focusing on managing cerebral edema (e.g., mannitol, hypertonic saline) and correcting hypoglycemia.
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