Gender Identity and Development — MCQs

10 questions

Which of the following is the least common cause of ambiguous genitalia in a female child

A GSP4 woman comes for routine sonography for the first time. She has four daughters and expresses a desire for a boy this time, asking for sex determination. To abide by ethical guidelines, what should you do?

Which of the following is not a Cluster A personality disorder?

Which of the following is the platinum-based chemotherapeutic agent used as first-line treatment for ovarian carcinoma?

Congenital adrenal hyperplasia is the most common cause of

If a baby has a XX or XY genotype, normal internal gonads, but ambiguous external genitalia, it is called?

What is the classification of intelligence corresponding to an IQ score of 90-109?

Which of the following is the karyotype of male who is sexually under developed with rudimentary testes and prostate glands, sparse pubic and facial hair, long arms and legs and large hands & feet?

In case of professional misconduct, patient records on demand should be provided within?

Q10

In which condition is sex reassignment surgery typically performed?

Gender Identity and Development Indian Medical PG Practice Questions and MCQs

Question 1: Which of the following is the least common cause of ambiguous genitalia in a female child

A. WNT-4 gene mutation
B. Congenital adrenal hyperplasia
C. Fetal placental aromatase deficiency (Correct Answer)
D. Fetal placental steroid sulfatase deficiency
E. Maternal androgen exposure

Explanation: ***Fetal placental aromatase deficiency*** - This condition is exceedingly rare and is considered one of the **least common genetic causes** of ambiguous genitalia in a female. - Deficiency of **aromatase** in the placenta prevents the conversion of androgens to estrogens, leading to **masculinization of a female fetus**, but this pathway is only a minor contributor to fetal androgenization. *WNT-4 gene mutation* - **WNT-4** is crucial for **female sexual differentiation** and acts as an anti-testis factor. - Mutations can lead to **Müllerian aplasia** and variable degrees of virilization in genetic females, making it a recognized, though not the most common, cause of ambiguous genitalia. *Congenital adrenal hyperplasia* - This is the **most common cause** of ambiguous genitalia in a female, primarily due to **21-hydroxylase deficiency**. - Excess adrenal androgens lead to **virilization** of the external genitalia in genetic females. *Maternal androgen exposure* - Virilization can occur from **maternal sources** such as androgen-secreting tumors, exogenous androgen use, or aromatase inhibitors during pregnancy. - This is an **uncommon but recognized cause**, more frequent than aromatase deficiency but far less common than CAH. *Fetal placental steroid sulfatase deficiency* - This deficiency typically results in **low maternal estrogen levels** and can cause **placental insufficiency** and abnormalities in labor, but it does **not directly cause ambiguous genitalia** in a female fetus. - While it affects steroid metabolism, it does not lead to the accumulation of androgens necessary for virilization of female external genitalia.

Question 2: A GSP4 woman comes for routine sonography for the first time. She has four daughters and expresses a desire for a boy this time, asking for sex determination. To abide by ethical guidelines, what should you do?

A. Check routine ANC and sex for developmental abnormalities and do not reveal gender to the patient (Correct Answer)
B. Check routine ANC and sex for developmental abnormalities and do reveal gender to the patient
C. Do reveal gender if a girl
D. Check only routine ANC, do not check sex

Explanation: ***Check routine ANC and sex for developmental abnormalities and do not reveal gender to the patient*** - It is **illegal** and **unethical** to reveal the sex of the fetus in many countries, including India, to prevent **sex-selective abortions**. - The primary purpose of a routine antenatal ultrasound is to assess fetal **health** and **developmental abnormalities**, not to determine sex for parental preference. *Check routine ANC and sex for developmental abnormalities and do reveal gender to the patient* - Revealing the gender to the patient directly facilitates **sex-selective abortion**, which is medically unethical and illegal due to the potential for harm to the fetus and society. - This practice would violate the **Pre-Conception and Pre-Natal Diagnostic Techniques (PCPNDT) Act** in India, which prohibits gender determination. *Do reveal gender if a girl* - Revealing the gender, regardless of whether it is a boy or a girl, can lead to **gender-biased selective abortions**, particularly in cultures with a strong preference for male offspring. - This action undermines the ethical principles of **non-maleficence** and **justice** by potentially facilitating harm based on gender preference. *Check only routine ANC, do not check sex* - While the primary focus is routine antenatal care, avoiding the assessment of fetal sex entirely could lead to **missing potential developmental abnormalities** that might be identifiable through observation of external genitalia. - A thorough ultrasound examination routinely includes a visual check of fetal anatomy, which can incidentally reveal gender, but this information should not be shared with the parents for selection purposes.

Question 3: Which of the following is not a Cluster A personality disorder?

A. schizoid
B. schizotypal
C. paranoid
D. anankastic (Correct Answer)

Explanation: ***Anankastic*** - **Anankastic personality disorder**, also known as **obsessive-compulsive personality disorder (OCPD)**, is classified under **Cluster C** personality disorders. - Cluster C disorders are characterized by anxious, fearful thinking or behavior, which differentiates them from the odd or eccentric behaviors of Cluster A. *Schizoid* - **Schizoid personality disorder** is a **Cluster A** personality disorder, characterized by a pervasive pattern of detachment from social relationships and a restricted range of expression of emotions in interpersonal settings. - Individuals with schizoid personality disorder typically show no desire for close relationships, including those with family members. *Schizotypal* - **Schizotypal personality disorder** is a **Cluster A** personality disorder, characterized by pervasive patterns of social and interpersonal deficits marked by acute discomfort with, and reduced capacity for, close relationships, as well as by cognitive or perceptual distortions and eccentricities of behavior. - These individuals may have odd beliefs or magical thinking that is inconsistent with cultural norms. *Paranoid* - **Paranoid personality disorder** is a **Cluster A** personality disorder, characterized by a pervasive distrust and suspiciousness of others, such that their motives are interpreted as malevolent. - Individuals with this disorder often believe that others are exploiting, harming, or deceiving them, even without sufficient basis.

Question 4: Which of the following is the platinum-based chemotherapeutic agent used as first-line treatment for ovarian carcinoma?

A. Cyclophosphamide
B. Methotrexate
C. Cisplatin (Correct Answer)
D. Dacarbazine

Explanation: ***Cisplatin*** - **Cisplatin** is a platinum-based chemotherapy drug that forms **DNA cross-links**, inhibiting DNA synthesis and leading to the death of rapidly dividing cells, making it highly effective against **ovarian carcinoma**. - It is a cornerstone of chemotherapy regimens for ovarian cancer, often used in combination with other agents such as paclitaxel. *Methotrexate* - **Methotrexate** is an **antimetabolite** that inhibits dihydrofolate reductase, thereby interfering with DNA synthesis. - While it is used in various cancers like leukemia, lymphoma, and some solid tumors (e.g., breast cancer, gestational trophoblastic disease), it is **not a primary recommended drug for ovarian carcinoma**. *Cyclophosphamide* - **Cyclophosphamide** is an **alkylating agent** that causes DNA damage, leading to cell death. - It is used in many cancers, including lymphoma, breast cancer, and some leukemias, but it is **not a first-line or primary agent for ovarian carcinoma** in contemporary treatment guidelines. *Dacarbazine* - **Dacarbazine** is an **alkylating agent** primarily used in the treatment of **malignant melanoma** and Hodgkin lymphoma. - It is **not indicated for the treatment of ovarian carcinoma**.

Question 5: Congenital adrenal hyperplasia is the most common cause of

A. True hermaphroditism
B. Female pseudohermaphroditism (androgenized female 46XX) (Correct Answer)
C. Male pseudohermaphroditism (underandrogenized male 46XY)
D. Turner's syndrome

Explanation: ***Female pseudohermaphroditism (androgenized female 46XX)*** - Congenital adrenal hyperplasia (CAH), particularly **21-hydroxylase deficiency**, leads to overproduction of **adrenal androgens**. [3] - In a 46,XX fetus, this excess androgen exposure results in masculinization of external genitalia, while internal female organs (uterus, ovaries) are present, defining **female pseudohermaphroditism**. [3] *True hermaphroditism* - Characterized by the presence of both **ovarian and testicular tissue** in the same individual. [2] - This condition is rare and not directly caused by the hormonal imbalances seen in CAH. *Male pseudohermaphroditism (underandrogenized male 46XY)* - Occurs in individuals with a **46,XY karyotype** who have testes but whose external genitalia are ambiguous or female due to **insufficient androgen production or action**. - Conditions like **androgen insensitivity syndrome** or defects in testosterone synthesis cause this, not CAH. [3] *Turner's syndrome* - A chromosomal disorder with a **45,XO karyotype**, primarily affecting females. [1] - It is characterized by features such as **short stature**, gonadal dysgenesis (streak gonads), and various congenital anomalies, and it is not a form of pseudohermaphroditism related to adrenal function. [1]

Question 6: If a baby has a XX or XY genotype, normal internal gonads, but ambiguous external genitalia, it is called?

A. True hermaphrodite
B. Disorder of Sex Development (DSD) (Correct Answer)
C. Intersex (outdated term)
D. Any of the above
E. Pseudohermaphrodite

Explanation: ***Disorder of Sex Development (DSD)*** - This is the **current preferred medical terminology** that encompasses conditions where there is a discrepancy between chromosomal sex, gonadal sex, and anatomical sex. - The scenario described—normal XX or XY genotype and normal internal gonads with **ambiguous external genitalia**—fits the definition of a DSD. - This **umbrella term** has replaced older terminology and is the most appropriate answer in modern medical practice. *True hermaphrodite* - A true hermaphrodite, now referred to as **ovotesticular DSD**, possesses both ovarian and testicular tissue simultaneously. - The question specifies **normal internal gonads** (either ovaries or testes, not both), which excludes this diagnosis. *Intersex (outdated term)* - While "intersex" was historically used to describe individuals with atypical sexual characteristics, it is now considered an **outdated and less precise** term in medical contexts. - "Disorder of Sex Development" is the preferred and more comprehensive medical classification. *Pseudohermaphrodite* - This was the **classical medical term** for exactly this presentation: normal chromosomal sex and appropriate internal gonads but ambiguous external genitalia. - Examples include 46,XX DSD with virilization (e.g., **congenital adrenal hyperplasia**) or 46,XY DSD with undervirilization (e.g., **androgen insensitivity syndrome**). - This term has been **replaced by DSD terminology** in modern medical practice to avoid stigmatizing language. *Any of the above* - While multiple terms have been used historically, **DSD is the most accurate and currently accepted medical term** for this specific presentation. - Therefore, this option is incorrect as it suggests all answers are equally valid.

Question 7: What is the classification of intelligence corresponding to an IQ score of 90-109?

A. Below average
B. Average (Correct Answer)
C. Slightly below average
D. Above average

Explanation: ***Average*** - An **IQ score** range of **90-109** is traditionally classified as **Average** intelligence. - This range represents the **mean** and surrounding **standard deviation** of IQ scores in the general population. *Below average* - This classification usually corresponds to IQ scores in the range of **70-79** or **80-89**, depending on the specific scale. - It does not represent the central tendency of the population's intelligence. *Slightly below average* - This category typically corresponds to IQ scores in the range of **80-89**. - It falls just below the average range but is not as low as the "below average" classification. *Above average* - This classification is typically assigned to IQ scores that are in the range of **110-119** or higher. - It signifies cognitive abilities that are greater than the majority of the population.

Question 8: Which of the following is the karyotype of male who is sexually under developed with rudimentary testes and prostate glands, sparse pubic and facial hair, long arms and legs and large hands & feet?

A. 45, X
B. 47, XYY
C. 46, XY
D. 47, XXY (Correct Answer)

Explanation: 47, XXY - This karyotype describes **Klinefelter syndrome**, the most common chromosomal disorder affecting males. - The extra X chromosome leads to **primary hypogonadism** with testicular dysgenesis, causing rudimentary testes with small, firm consistency and azoospermia (infertility) [1]. - Clinical features include **sparse body hair** (pubic, facial, and axillary), **eunuchoid body proportions** (long limbs, large hands and feet due to delayed epiphyseal closure), **gynecomastia**, and elevated gonadotropins (FSH/LH) [1]. - Patients have **decreased testosterone** levels and are at increased risk of metabolic syndrome, osteoporosis, and breast cancer [1]. *Incorrect: 45, X* - This karyotype describes **Turner syndrome**, which affects phenotypic females, not males [1]. - Characterized by **short stature** (opposite of the long limbs described), webbed neck, shield chest, and **gonadal dysgenesis** with streak ovaries. - Does not present with male characteristics or testicular development. *Incorrect: 47, XYY* - This karyotype describes **XYY syndrome** (Jacob's syndrome). - Individuals are typically **tall with normal male sexual development** and normal fertility. - May have mild learning difficulties or behavioral issues, but do NOT present with hypogonadism, sparse body hair, or rudimentary testes. *Incorrect: 46, XY* - This is the **normal male karyotype** with standard male sexual development. - Would present with normal secondary sexual characteristics, normal testicular size, and normal testosterone levels—completely contrary to the clinical picture described. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Genetic Disorders, pp. 173-175.

Question 9: In case of professional misconduct, patient records on demand should be provided within?

A. 36 hours
B. 24 hours
C. 7 days
D. 72 hours (Correct Answer)

Explanation: ***72 hours*** - In cases of professional misconduct investigations, medical records are generally required to be produced within **72 hours** of formal demand. - This timeframe allows for prompt review by regulatory bodies while providing adequate time for the practitioner to gather the necessary documentation. *36 hours* - This timeframe is typically too short for the comprehensive retrieval and organization of patient records, especially in cases where the records might be extensive or stored off-site. - There are no standard professional guidelines that mandate such a short period for record production in misconduct cases. *24 hours* - Producing patient records within **24 hours** is usually only feasible in emergency situations or for very limited, specific documents. - This is an impractically short period for compliance during investigations of professional misconduct, which often involve a thorough review of extensive records. *7 days* - While seemingly reasonable, a period of **7 days** might be considered too long when an investigation into professional misconduct requires urgent access to records. - Prompt access to patient records is crucial for swift and effective resolution of such sensitive cases, making 72 hours a more appropriate balance.

Question 10: In which condition is sex reassignment surgery typically performed?

A. Premature ejaculation
B. Erectile dysfunction
C. Orgasmic dysfunction
D. Gender dysphoria (Correct Answer)

Explanation: ***Gender dysphoria*** - **Sex reassignment surgery** is primarily performed as part of the treatment for **gender dysphoria**, a condition where there is a marked incongruence between an individual's experienced/expressed gender and their assigned sex. - The surgery aims to align the individual's physical appearance with their **gender identity**, alleviating distress and improving quality of life. *Premature ejaculation* - This condition involves consistent or recurrent ejaculation with minimal sexual stimulation before, during, or shortly after penetration and before the person wishes it. - Treatment typically includes behavioral therapies, medication (e.g., SSRIs), and psychological counseling, not surgical intervention. *Erectile dysfunction* - **Erectile dysfunction** is the inability to achieve or maintain an erection firm enough for satisfactory sexual intercourse. - Treatments range from lifestyle changes and oral medications (e.g., PDE5 inhibitors) to vacuum devices, penile injections, and in some cases, penile implants, but not sex reassignment surgery. *Orgasmic dysfunction* - This condition refers to persistent or recurrent delay in, or absence of, orgasm following a normal phase of sexual excitement. - Management often involves psychological counseling, addressing underlying medical conditions, or adjusting medications; it does not involve sex reassignment surgery.

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