Male Factor Infertility — MCQs
A child with decreased levels of LH, FSH and Testosterone presents with delayed puberty. Which of the following is the most likely Diagnosis
Young male presents with delayed puberty with decreased FSH, LH, and testosterone. Which of the following is NOT possible?
A couple comes for evaluation of infertility. The HSG was normal but semen analysis revealed azoospermia. What is the diagnostic test to differentiate between testicular failure and vas deferens obstruction?
Seminal vesicles and vas deferens would be bilaterally absent congenitally in which of the following conditions?
What does teratozoospermia refer to?
All are seen in Klinefelter syndrome, except which of the following?
Which of the following is a cause of male infertility?
Which test produces characteristic crystals for the detection of semen?
A 28-year old woman comes with infertility. Husband's semen analysis is normal. Endometrial biopsy shows secretory changes with no evidence of tuberculosis. On hysterosalpingography both tubes show tubal blockage. What should be the next step in management?
In a couple, which of the following investigations are included in the initial work-up for infertility?
Male Factor Infertility Indian Medical PG Practice Questions and MCQs
Question 1: A child with decreased levels of LH, FSH and Testosterone presents with delayed puberty. Which of the following is the most likely Diagnosis
- A. Klinefelter's syndrome
- B. Kallman's syndrome (Correct Answer)
- C. Testicular infection
- D. Androgen Insensitivity Syndrome
Explanation: ***Kallman's syndrome*** - **Kallmann's syndrome** is characterized by **isolated hypogonadotropic hypogonadism**, meaning the hypothalamus fails to produce **GnRH**, leading to low LH and FSH, and consequently low testosterone, causing delayed puberty. - A key distinguishing feature is the association with **anosmia or hyposmia** (impaired sense of smell) due to abnormal migration of olfactory neurons and GnRH-producing neurons. *Klinefelter's syndrome* - This condition is characterized by **primary hypogonadism** (testicular failure) due to an extra X chromosome (47,XXY), leading to **high LH and FSH** in an attempt to stimulate the failing testes. - Although testosterone is low and puberty is delayed, the **elevated gonadotropins** differentiate it from Kallmann's syndrome. *Testicular infection* - An infection like **orchitis** can lead to testicular damage and *primary hypogonadism*, resulting in low testosterone. - However, similar to Klinefelter's, this would typically cause **elevated LH and FSH** due to the lack of negative feedback from the testes. *Androgen Insensitive syndrome* - In **Androgen Insensitivity Syndrome (AIS)**, testosterone levels are typically **normal or even elevated**, but the body's cells are unable to respond to androgens due to defective receptors. - This condition presents with a female phenotype despite a 46,XY karyotype, and **gonadotropin levels (LH and FSH) are usually normal to high**, not decreased.
Question 2: Young male presents with delayed puberty with decreased FSH, LH, and testosterone. Which of the following is NOT possible?
- A. Kallmann syndrome
- B. Klinefelter's syndrome (Correct Answer)
- C. Constitutional delay
- D. DAX-1 gene mutation
Explanation: ***Klinefelter's syndrome*** - Klinefelter's syndrome is characterized by **primary hypogonadism**, meaning the testes themselves fail to produce testosterone [3]. This leads to **high FSH and LH** levels due to the lack of negative feedback from testosterone [2],[3]. - The presenting clinical picture of **low FSH, LH, and testosterone** indicates **central hypogonadism**, where the pituitary or hypothalamus is at fault, not the testes directly [2]. *Kallmann syndrome* - Kallmann syndrome is a form of **congenital hypogonadotropic hypogonadism** characterized by a failure of GnRH-producing neurons to migrate to the hypothalamus, leading to **low FSH, LH, and testosterone**. - It is often associated with **anosmia (loss of smell)**, which is a key diagnostic feature. *Constitutional delay* - **Constitutional delay of growth and puberty** is a common cause of delayed puberty, characterized by a temporary suppression of the GnRH pulse generator [1]. - This results in **low FSH, LH, and testosterone** that eventually normalize, and often has a family history of delayed puberty [1]. *DAX-1 gene mutation* - Mutations in the **DAX-1 gene (NR0B1)** are associated with **X-linked adrenal hypoplasia congenita (AHC)**, which often presents with central or **hypogonadotropic hypogonadism**. - This condition leads to **low FSH, LH, and testosterone** due to hypothalamic-pituitary dysfunction in addition to adrenal insufficiency.
Question 3: A couple comes for evaluation of infertility. The HSG was normal but semen analysis revealed azoospermia. What is the diagnostic test to differentiate between testicular failure and vas deferens obstruction?
- A. Serum FSH (Correct Answer)
- B. Testicular FNAC
- C. Testosterone levels
- D. Karyotyping
Explanation: ***Serum FSH*** - In **testicular failure**, the pituitary gland tries to compensate for poor sperm production by increasing **follicle-stimulating hormone (FSH)**, leading to **elevated FSH levels**. - In **vas deferens obstruction**, the testes are producing sperm normally, so the pituitary does not need to overstimulate them, resulting in **normal FSH levels**. *Testicular FNAC* - **Fine needle aspiration cytology (FNAC)** of the testis can *confirm* the presence or absence of sperm production but is not the primary diagnostic test to *differentiate* between the two conditions without prior hormonal assessment. - It is an **invasive procedure** typically considered after initial hormone testing and physical examination. *Testosterone levels* - **Testosterone levels** primarily reflect the Leydig cell function and can be normal in both **testicular failure** (especially germ cell-specific failure) and **vas deferens obstruction**. - While low testosterone can indicate Leydig cell dysfunction, it doesn't specifically differentiate between the two causes of azoospermia in all cases. *Karyotyping* - **Karyotyping** is used to detect **chromosomal abnormalities** (e.g., Klinefelter syndrome) that can cause testicular failure. - While important for identifying underlying genetic causes, it does not directly differentiate between existing testicular failure and vas deferens obstruction based on direct physiological function.
Question 4: Seminal vesicles and vas deferens would be bilaterally absent congenitally in which of the following conditions?
- A. Cystic fibrosis (Correct Answer)
- B. Kartagener syndrome
- C. Klinefelter syndrome
- D. Kallmann syndrome
Explanation: ***Cystic fibrosis*** - **Congenital bilateral absence of the vas deferens (CBAVD)** is found in over 95% of males with cystic fibrosis, often leading to infertility. - This condition results from mutations in the **CFTR gene**, which is responsible for chloride transport, causing thick, viscous secretions that block or prevent the development of these structures. *Kartagener syndrome* - This syndrome is a subgroup of **primary ciliary dyskinesia**, characterized by a triad of *situs inversus*, chronic sinusitis, and bronchiectasis. - While it causes **infertility due to immotile sperm**, the male reproductive tract organs like the vas deferens and seminal vesicles are typically present. *Klinefelter syndrome* - Individuals with Klinefelter syndrome have a **47,XXY karyotype** and typically present with small testes, azoospermia, and hypogonadism [1]. - However, the **vas deferens and seminal vesicles are usually present**, though they may be underdeveloped or dysfunctional. *Kallmann syndrome* - This is a form of **hypogonadotropic hypogonadism** associated with anosmia or hyposmia (impaired sense of smell). - It results from a failure of GnRH-producing neurons to migrate to the hypothalamus, affecting hormone production, but the **anatomical structures of the vas deferens and seminal vesicles are usually intact**.
Question 5: What does teratozoospermia refer to?
- A. Low sperm count
- B. Sperm with abnormal motility
- C. Absence of sperm in semen
- D. Morphologically defective sperm (Correct Answer)
Explanation: ***Morphologically defective sperm*** - **Teratozoospermia** specifically refers to the presence of an unusually high percentage of **abnormally shaped sperm** in an ejaculate. - These malformations can affect the **head, midpiece, or tail** of the sperm, potentially impairing its ability to fertilize an egg. *Low sperm count* - This condition is known as **oligozoospermia**, which refers to a sperm concentration below the normal range. - While low sperm count can affect fertility, it is distinct from issues with sperm morphology. *Sperm with abnormal motility* - This condition is called **asthenozoospermia**, characterized by reduced or absent sperm movement. - Poor motility impacts the sperm's ability to reach and penetrate the egg, but it is not directly related to sperm shape. *Absence of sperm in semen* - The complete absence of sperm in the ejaculate is known as **azoospermia**. - This is a severe form of male infertility, different from having sperm with structural defects.
Question 6: All are seen in Klinefelter syndrome, except which of the following?
- A. Azoospermia
- B. Normal male phenotype (Correct Answer)
- C. Cognitive impairment
- D. Elevated FSH level
Explanation: ***Normal male phenotype*** - Klinefelter syndrome (47, XXY) is characterized by a distinct phenotype that deviates from a normal male, including features such as **tall stature**, **gynecomastia**, and **small testes** [1]. - A normal male phenotype would imply the absence of these characteristic features. *Cognitive impairment* - While not severe, **mild cognitive and learning difficulties**, especially in language skills, are common in individuals with Klinefelter syndrome [1]. - This can manifest as problems with **expressive language** and **reading**. *Azoospermia* - **Azoospermia**, or the complete absence of sperm in semen, is a very common finding in Klinefelter syndrome due to testicular dysfunction and hypogonadism [1]. - This leads to **infertility**, which is a primary concern for affected individuals. *Elevated FSH level* - The **elevated FSH (follicle-stimulating hormone) level** is a hallmark of primary testicular failure in Klinefelter syndrome [1], [2]. - The damaged seminiferous tubules in the testes fail to produce inhibin, leading to a lack of negative feedback on the pituitary, thus increasing FSH [2].
Question 7: Which of the following is a cause of male infertility?
- A. Idiopathic
- B. Yq11 microdeletion
- C. Varicocele
- D. All of the options (Correct Answer)
Explanation: ***All of the options*** - **Idiopathic**, **varicocele**, and **Yq11 microdeletion** are all recognized causes of male infertility, making this the most comprehensive and correct answer. - Male infertility can stem from a variety of factors, including genetic, structural, hormonal, and unexplained (idiopathic) causes. *Idiopathic* - Refers to cases where no specific cause for infertility can be identified despite thorough investigation, accounting for a significant proportion of male infertility. - This diagnosis is made by **exclusion** after ruling out other known causes. *Varicocele* - A common and treatable cause of male infertility, characterized by **dilated veins in the pampiniform plexus** of the scrotum. - Varicoceles can impair sperm production and function due to **increased scrotal temperature** and oxidative stress. *Yq11 microdeletion* - Refers to deletions in the **azoospermia factor (AZF) region** on the long arm of the Y chromosome, which are genetic causes of severe spermatogenic failure. - These deletions disrupt genes essential for sperm production, leading to conditions ranging from **oligozoospermia** (low sperm count) to **azoospermia** (absence of sperm).
Question 8: Which test produces characteristic crystals for the detection of semen?
- A. Acid phosphatase test
- B. Florence test
- C. Barberio's test (Correct Answer)
- D. PSA test
Explanation: ***Barberio's test*** - This test is specifically used for the **microscopic detection of seminal fluid** by producing **characteristic spermine picrate crystals**. - It involves the addition of a **saturated picric acid solution** to a semen stain extract, leading to the formation of distinct **yellow, needle-like crystals** that are diagnostic. - It is a **confirmatory microscopic crystal test** that provides visual evidence of semen presence. *Acid phosphatase test* - This is a **presumptive test for semen** that relies on the detection of high levels of acid phosphatase, an enzyme found in seminal fluid. - While it indicates the *possible* presence of semen, it is **not confirmatory** as acid phosphatase can be found in other bodily fluids and vegetable matter. - Does **not produce crystals** for identification. *Florence test* - The Florence test is a **presumptive crystal test** that detects choline in semen, forming dark brown, rhombic crystals of choline periodide. - However, it is **not specific for semen** because choline can be found in other biological materials and vaginal secretions. - Less reliable than Barberio's test for semen confirmation. *PSA test* - The **prostate-specific antigen (PSA) test** is a highly specific **immunological confirmatory test** for human semen. - It detects the glycoprotein PSA (P30) produced by the prostate gland. - However, it does **not produce crystals** and uses different methodology (immunochromatography/ELISA).
Question 9: A 28-year old woman comes with infertility. Husband's semen analysis is normal. Endometrial biopsy shows secretory changes with no evidence of tuberculosis. On hysterosalpingography both tubes show tubal blockage. What should be the next step in management?
- A. IVF
- B. Diagnostic laparoscopy and chromo-pertubation (Correct Answer)
- C. Tuboplasty
- D. ICSI
Explanation: ***Diagnostic laparoscopy and chromo-pertubation*** - This procedure directly visualizes the fallopian tubes and surrounding pelvic structures, allowing for definitive confirmation of tubal blockage and identification of potential causes like **endometriosis** or **adhesions**. - **Chromo-pertubation** involves injecting a dye through the cervix to assess tubal patency and identify the exact location and nature of the blockage. *IVF* - While IVF is a viable option for tubal factor infertility, it is generally considered after a more thorough diagnostic workup, especially when the cause of blockage is unknown and potentially treatable. - Proceeding directly to IVF without assessing the possibility of surgical correction might be premature and miss an opportunity for natural conception or a less invasive intervention. *Tuboplasty* - **Tuboplasty** is a surgical procedure to repair or reconstruct damaged fallopian tubes. - However, its success depends on the extent of damage and the specific type of blockage, which can only be determined after a diagnostic evaluation like laparoscopy. *ICSI* - **ICSI (Intracytoplasmic Sperm Injection)** is a specialized form of IVF primarily used for severe male factor infertility, not tubal blockage, especially when the husband's semen analysis is normal. - While ICSI can be part of an IVF cycle, it's not the primary next step for diagnosing or treating tubal blockage in a woman with normal male factor.
Question 10: In a couple, which of the following investigations are included in the initial work-up for infertility?
- A. Testicular biopsy, USG, Sperm penetration test
- B. Ovulation, tubal patency, Mantoux test
- C. Semen analysis, CXR, Mantoux
- D. Semen analysis, Tubal patency test, Ovulation test (Correct Answer)
Explanation: ***Semen analysis, Tubal patency test, Ovulation test*** - This option correctly identifies the **key initial investigations** for both male and female factors in infertility: **semen analysis** for male fertility, **tubal patency test** for assessing fallopian tube function, and **ovulation test** to confirm female ovulatory cycles. - These tests are fundamental in a comprehensive initial infertility work-up as they address the most common causes of infertility. *Testicular biopsy, USG, Sperm penetration test* - While **testicular biopsy** and **sperm penetration test** are relevant, they are typically **second-line investigations** performed if initial tests (like semen analysis) are abnormal. - **Ultrasound (USG)** is a general imaging modality and not a primary, specific infertility test for both partners as listed. *Ovulation, tubal patency, Mantoux test* - **Ovulation** and **tubal patency** are essential, but the **Mantoux test** (for tuberculosis) is generally not part of the *initial routine* infertility work-up unless there is clinical suspicion or prevalence in the region. - The Mantoux test is specific for a particular infection, and not a broad screening test for infertility. *Semen analysis, CXR, Mantoux* - **Semen analysis** is appropriate, but a **Chest X-ray (CXR)** and **Mantoux test** are not routine initial investigations for infertility. - These tests would only be indicated if there were specific clinical signs or a history suggestive of underlying pulmonary or infectious disease.
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