Disorders of sexual development Flashcards
Topic: Normal Sexual Development
Question: Which gene on the Y chromosome is considered the testis-determining factor?
A. RSY
B. SRY
C. TDF
D. SDT
Correct Answer: B. SRY
Explanation: The SRY (sex-determining region Y) gene on the Y chromosome is considered the testis-determining factor.
Memory Tool: Think of SRY as “Sorry, you’re a Y (male).”
Question: At what weeks of gestation do the Sertoli cells of the testis secrete anti-Müllerian hormone (AMH)?
A. 1-2 weeks
B. 7-8 weeks
C. 9-10 weeks
D. 12-13 weeks
Correct Answer: B. 7-8 weeks
Explanation: The Sertoli cells of the testis secrete anti-Müllerian hormone (AMH) at 7 to 8 weeks of gestation.
Memory Tool: “AMH arrives at 7-8, just like breakfast.”
Topic: Embryologic Origins of Genital Structures (Table 10.1)
Question: What is the embryonic structure that gives rise to the ovarian ligament and round ligament of uterus?
A. Gonadal cortex
B. Rete ovarii
C. Gubernaculum
D. Paradidymis
Correct Answer: C. Gubernaculum
Explanation: The embryonic structure that gives rise to the ovarian ligament is the Gubernaculum.
Memory Tool: “Governors (Gubernaculum) always have ties (ligaments) to females (ovaries).”
Question: What is the embryologic origin of the female urethra?
A. Urogenital sinus
B. Müllerian duct
C. Wolffian duct
D. Gonadal medulla
Correct Answer: A. Urogenital sinus
Explanation: The embryologic origin of the female urethra is the urogenital sinus.
Memory Tool: “Uro-genital sinus takes U to the restroom.”
Topic: Disorders of Sexual Development (DSD)
Question: Which term is most widely used for conditions of abnormal sexual differentiation?
A. Intersex
B. Disorders of Sexual Differentiation
C. Difference of Sex Development
D. Disorders of Sexual Development
Correct Answer: D. Disorders of Sexual Development
Explanation: The most widely used terminology is Disorders of Sexual Development (DSD).
Memory Tool: “When it comes to terminology, DSD is the VIP.”
Topic: Diagnosis and Management in the Newborn with Ambiguous Genitalia
Question: What is the mean stretched penile length in a full-term newborn male in the United States?
A. 2.5 cm
B. 3.5 cm
C. 4.5 cm
D. 5.5 cm
Correct Answer: B. 3.5 cm
Explanation: The mean stretched penile length in a full-term newborn male in the United States is 3.5 cm (±0.04).
Memory Tool: “Newborn boys start at 3.5, just like the beginning of a race.”
Question: Which hormone levels should be checked immediately in a newborn with ambiguous genitalia? (Choose all that apply)
A. Serum electrolytes
B. 17-hydroxyprogesterone
C. Testosterone
D. Follicle-stimulating hormone (FSH)
Correct Answer: A, B, C, D
Explanation: Immediate serum laboratory evaluation includes karyotype, serum electrolytes, 17-hydroxyprogesterone, testosterone, luteinizing hormone (LH), and follicle-stimulating hormone (FSH).
Memory Tool: “For ambiguous newborns, remember the EFT Duo: Electrolytes, 17-hydroxyprogesterone, Testosterone, and the Duo of LH and FSH.”
Topic: Disorders of Gonadal Differentiation and Development
Question: What is the risk of germ cell tumors in 46,XY complete “pure” gonadal dysgenesis (Swyer syndrome) by 30 years of age?
A. 10%
B. 20%
C. 35%
D. 50%
Correct Answer: C. 35%
Explanation: The risk of germ cell tumors in 46,XY complete “pure” gonadal dysgenesis (Swyer syndrome) is up to 35% by 30 years of age.
Memory Tool: “Think of Swyer as a 30-year-old with a 35% off coupon for trouble.”
Question: What is the term used to describe the presence of both ovarian and testicular tissue in an individual?
A. Hermaphroditism
B. Ovotestis
C. Gonadal dysgenesis
D. Pseudohermaphroditism
Correct Answer: B. Ovotestis
Explanation: The term “Ovotestis” is used to describe the presence of both ovarian and testicular tissue in an individual.
Memory Tool: “Ovo” for ovary and “testis” for testicle; combined, they create “Ovotestis.”
Topic: Diagnosis and Management for the Older Child with Suspected DSD
Question: What is the first-line diagnostic modality for evaluating internal genitalia in a child with suspected DSD?
A. MRI
B. Ultrasound
C. CT scan
D. X-ray
Correct Answer: B. Ultrasound
Explanation: Ultrasound is the first-line diagnostic modality for evaluating internal genitalia in children with suspected DSD.
Memory Tool: “When in doubt, sound it out (Ultrasound).”
Question: Which medication is commonly used to suppress puberty in children with suspected DSD?
A. Leuprolide
B. Spironolactone
C. Clomiphene
D. Finasteride
Correct Answer: A. Leuprolide
Explanation: Leuprolide is commonly used to suppress puberty in children with suspected DSD.
Memory Tool: “Leuprolide puts puberty on ‘Lieu’-leave.”
Topic: Specific Pathophysiology and Management of Various DSD (Tables 10.3-10.4)
Question: What is the most common cause of 46,XX DSD?
A. Turner Syndrome
B. Androgen Insensitivity Syndrome
C. Congenital Adrenal Hyperplasia
D. Klinefelter Syndrome
Correct Answer: C. Congenital Adrenal Hyperplasia
Explanation: The most common cause of 46,XX DSD is Congenital Adrenal Hyperplasia (CAH).
Memory Tool: “CAH takes the XX crown.”
Question: Which mutation is commonly found in patients with Kallmann Syndrome?
A. FGF8
B. KAL1
C. GNRHR
D. NR5A1
Correct Answer: B. KAL1
Explanation: The KAL1 gene mutation is commonly found in patients with Kallmann Syndrome.
Memory Tool: “KAL1 is the key to Kallmann’s door.”
Question: What is the standard treatment for 5-alpha reductase deficiency?
A. Androgen therapy
B. Estrogen therapy
C. Surgical reconstruction
D. Gonadectomy
Correct Answer: A. Androgen therapy
Explanation: The standard treatment for 5-alpha reductase deficiency is androgen therapy.
Memory Tool: “Five Alpha needs an A (Androgen).”
Topic: Genital Ambiguity in the Newborn (Table 10.5)
Question: What is the most common cause of genital ambiguity in the newborn?
A. Androgen Insensitivity Syndrome
B. Congenital Adrenal Hyperplasia
C. Mixed Gonadal Dysgenesis
D. 5-alpha reductase deficiency
Correct Answer: B. Congenital Adrenal Hyperplasia
Explanation: Congenital Adrenal Hyperplasia is the most common cause of genital ambiguity in the newborn.
Memory Tool: “In newborn ambiguity, CAH is the usual suspect.”
Question: What initial tests are recommended for assessing genital ambiguity in the newborn?
A. Chromosome analysis and ultrasound
B. Chromosome analysis and hormone levels
C. MRI and ultrasound
D. Hormone levels and MRI
Correct Answer: B. Chromosome analysis and hormone levels
Explanation: Initial tests for assessing genital ambiguity in the newborn include chromosome analysis and hormone levels.
Memory Tool: “Newborn ambiguity? Check the ABCs: Analysis of Chromosomes and hormones.”
Question: What age is recommended for elective gonadectomy in children with DSD and Y chromosome material?
A. Before puberty
B. After puberty
C. At the time of diagnosis
D. Age is not a factor
Correct Answer: A. Before puberty
Explanation: It is recommended to perform elective gonadectomy in children with DSD and Y chromosome material before puberty.
Memory Tool: “Before the teen years tick, remove the Y-linked risk.”
Question 3: Hormonal Influence in Development
Topic: Hormones in Sexual Development
Vignette: A pediatric urologist encounters a newborn boy with abnormal genitalia. The doctor suspects a problem with the boy’s hormonal development during gestation.
Multiple-Choice Options:
A. Anti-Müllerian hormone is secreted at 12–13 weeks of gestation.
B. Androgens promote virilization of wolffian duct structures at approximately 6 weeks of gestation.
C. Testosterone secretion by the fetal testis Leydig cells occurs at approximately 9 weeks of gestation.
D. Sertoli cells secrete testosterone at 7–8 weeks of gestation.
Correct Answer: C. Testosterone secretion by the fetal testis Leydig cells occurs at approximately 9 weeks of gestation.
Explanation: Testosterone secretion by the fetal testis Leydig cells occurs at about 9 weeks of gestation, promoting virilization of wolffian duct structures.
Memory Tool: “9 weeks for 9 Lives of Testosterone” to remember when Leydig cells start secreting testosterone.
Reference Citation: Paragraph 6
Rationale: This question evaluates the examinee’s understanding of the timing and hormonal influences affecting sexual development, essential for diagnosing and managing DSD.
Question 2: Common Embryologic Origins of Genital Structures
Clinical Vignette: A pediatric urologist is consulting on a newborn with ambiguous genitalia and is asked about the embryological origin of the testis.
A. Indifferent Gonad
B. Gonadal cortex
C. Gonadal medullar
D. Mesonephric tubules
Correct Answer: A
Explanation: The testis originates from the Indifferent Gonad according to Table 10.1.
Memory Tool: “Indifferent Gonad isn’t indifferent about becoming a Testis.”
Reference: Table 10.1
Rationale: Knowledge of embryological origins is essential for understanding the possible etiologies and management strategies for ambiguous genitalia and other DSDs.
Question 3: Hormones in Sexual Development
Clinical Vignette: An endocrinologist is treating a young patient with a suspected DSD and wants to confirm the role of certain hormones in male sexual development.
A. Anti-Müllerian hormone is secreted by Leydig cells
B. Testosterone secretion by Leydig cells occurs at approximately 6 weeks of gestation
C. DHT binds to the receptor with less affinity and stability than testosterone
D. Sertoli cells secrete anti-Müllerian hormone at 7 to 8 weeks of gestation
Correct Answer: D
Explanation: The Sertoli cells of the testis secrete anti-Müllerian hormone (AMH) at 7 to 8 weeks of gestation.
Memory Tool: “Sertoli secretes to Stop Müllerian” (Sertoli secretes anti-Müllerian hormone)
Reference: Paragraph 5
Rationale: Understanding the hormonal regulation in sexual development is crucial for the diagnosis and management of DSDs.
Question 4: Urethral Development
Clinical Vignette: A urologist is consulted for a newborn with a suspected urethral anomaly. The physician wants to confirm the embryological origin of the spongy urethra.
A. Derived from the endoderm
B. Derived from the mesoderm
C. Derived from the ectoderm
D. Derived from both endoderm and mesoderm
Correct Answer: A
Explanation: The spongy urethra is derived from the endoderm, as per Table 10.1.
Memory Tool: “Endoderm is the End-all for Spongy Urethra.”
Reference: Table 10.1
Rationale: Understanding the embryological origin of urethral structures aids in the diagnosis and management of congenital urethral anomalies.
Question 5: Disorders of Sexual Development
Clinical Vignette: A pediatrician is evaluating a newborn girl with clitoromegaly. The physician is considering the most common cause of 46,XX DSD.
A. Androgen Insensitivity Syndrome
B. Congenital Adrenal Hyperplasia
C. Mixed Gonadal Dysgenesis
D. 5-alpha reductase deficiency
Correct Answer: B
Explanation: Congenital Adrenal Hyperplasia is the most common cause of 46,XX DSD, as indicated in paragraph 8.
Memory Tool: “Bigger CAHuse, Bigger Clitoris” (CAH most common in 46,XX with clitoromegaly)
Reference: Paragraph 8
Rationale: Identifying the most common causes of DSD helps in formulating a differential diagnosis and guiding further evaluation and management.
Question 6: Types of Hypospadias
Clinical Vignette: A urologist is evaluating a 1-year-old boy for hypospadias and wants to recall the classification based on the location of the meatus.
A. Penoscrotal hypospadias is the most common type
B. Glandular hypospadias is the most severe form
C. Subcoronal hypospadias is the least severe form
D. Glandular hypospadias is the most common type
Correct Answer: D
Explanation: Glandular hypospadias is the most common type, according to Table 10.2.
Memory Tool: “Glandular is Grand-ular” (most common type)
Reference: Table 10.2
Rationale: Understanding the classification of hypospadias is essential for surgical planning and counseling families.
Question 6: Disorders of Gonadal Differentiation and Development - Klinefelter syndrome
Clinical Vignette: A 20-year-old male presents with small testicles and gynecomastia. He is found to have azoospermia upon further testing.
A. What is the most likely diagnosis?
A) Turner syndrome
B) Klinefelter syndrome
C) Gonadal dysgenesis
D) 46,XX male
E) 46,XY complete “pure” gonadal dysgenesis (Swyer syndrome)
Correct Answer: B) Klinefelter syndrome
Explanation: The classical presentation of Klinefelter syndrome includes small and firm testicles, gynecomastia, and azoospermia.
Memory Tool: Think of “Klein” as “small” for small testicles, and “felter” as “felt her” for gynecomastia.
Reference Citation: Paragraph on Klinefelter syndrome
Rationale: This question assesses your knowledge about one of the most common major abnormalities of sexual development, which is relevant for diagnosis and management.
Question 7: Disorders of Gonadal Differentiation and Development - Turner syndrome
Clinical Vignette: A 14-year-old girl presents with short stature, lack of secondary sexual characteristics, and primary amenorrhea. She has a broad chest with widely spaced nipples.
A. What is the most likely diagnosis?
A) 46,XX pure gonadal dysgenesis
B) Turner syndrome
C) Klinefelter syndrome
D) Mixed gonadal dysgenesis
E) 46,XX male
Correct Answer: B) Turner syndrome
Explanation: Turner syndrome is characterized by one normal functioning X chromosome and presents with features such as short stature, primary amenorrhea, and broad chest.
Memory Tool: “Turn her stature short” for Turner syndrome.
Reference Citation: Paragraph on Turner syndrome
Rationale: This question is designed to test your ability to recognize classic symptoms of Turner syndrome, a condition with significant clinical implications.
Question 8: Disorders of Gonadal Differentiation and Development - 46,XX male
Clinical Vignette: A 25-year-old infertile male is found to have a 46,XX karyotype but normal male external genitalia.
A. What is the most likely diagnosis?
A) Klinefelter syndrome
B) 46,XX male
C) 46,XY complete “pure” gonadal dysgenesis
D) Mixed gonadal dysgenesis
E) Turner syndrome
Correct Answer: B) 46,XX male
Explanation: 46,XX male is characterized by testicular development in individuals with no Y chromosome.
Memory Tool: “XX but still a guy” for 46,XX male.
Reference Citation: Paragraph on 46,XX male
Rationale: This question addresses the recognition of a less common but important variant of sexual development disorders, essential for accurate diagnosis and management.
Question 9: Disorders of Gonadal Differentiation and Development - Gonadal dysgenesis
Clinical Vignette: A 16-year-old female presents with lack of pubertal development and primary amenorrhea. She has elevated serum gonadotropins and is found to have bilateral streak gonads.
A. What is the most likely diagnosis?
A) Turner syndrome
B) 46,XX male
C) 46,XX “pure” gonadal dysgenesis
D) Klinefelter syndrome
E) Mixed gonadal dysgenesis
Correct Answer: C) 46,XX “pure” gonadal dysgenesis
Explanation: 46,XX “pure” gonadal dysgenesis presents with female external genitalia, normal Müllerian ducts, and bilateral streak gonads.
Memory Tool: “Pure XX but no pure development” for 46,XX “pure” gonadal dysgenesis.
Reference Citation: Paragraph on 46,XX “pure” gonadal dysgenesis
Rationale: This question tests your understanding of a particular form of gonadal dysgenesis and its clinical presentation.
Question 1: Normal Sexual Development
Topic: Normal Sexual Development
Clinical Vignette: A 32-year-old expecting mother is concerned about the normal sexual development of her unborn child and asks what processes are involved.
A. Which of the following processes are NOT involved in normal sexual development?
A) Establishment of genotypic (chromosomal) sex
B) Establishment of phenotypic sex
C) Formation of gender identity
D) Formation of secondary sexual characteristics
E) All of the above are involved
Correct Answer: D) Formation of secondary sexual characteristics
Explanation: Normal sexual development involves the establishment of genotypic (chromosomal) sex, establishment of phenotypic sex, and formation of gender identity. Formation of secondary sexual characteristics is a part of pubertal development but not specifically mentioned under normal sexual development.
Memory Tool: Think “GPS” for Genotypic, Phenotypic, and Sexual identity to remember the steps in normal sexual development.
Reference: Paragraph 2
Rationale: This information is important to understand the fundamentals of sexual development and could be a potential topic on the board exams.
Question 2: Role of SRY gene
Topic: Role of SRY gene in Sexual Development
Clinical Vignette: A geneticist is explaining the role of the SRY gene in sexual development to a group of medical students.
A. What does the SRY gene primarily determine?
A) Ovarian organogenesis
B) Phenotypic sex
C) Testis differentiation
D) Germ cell development
E) Gender identity
Correct Answer: C) Testis differentiation
Explanation: The SRY gene on the Y chromosome is considered the testis-determining factor. Under its influence, the bipotential gonadal ridges differentiate into testes.
Memory Tool: SRY = “Sorry, you’re a guy” to remember it’s the testis-determining factor.
Reference: Paragraph 3
Rationale: Understanding the role of the SRY gene is crucial for understanding disorders of sexual development.
Question 3: Importance of Anti-Müllerian Hormone
Topic: Importance of Anti-Müllerian Hormone
Clinical Vignette: An 8-week-old male fetus is being evaluated for normal sexual development.
A. What hormone is secreted by the Sertoli cells to promote Müllerian duct regression?
A) Testosterone
B) Luteinizing Hormone
C) Anti-Müllerian Hormone
D) Androgens
E) Follicle-Stimulating Hormone
Correct Answer: C) Anti-Müllerian Hormone
Explanation: The Sertoli cells of the testis secrete anti-Müllerian hormone at 7 to 8 weeks of gestation, which promotes Müllerian duct regression.
Memory Tool: “Anti-Müllerian Hormone stops you from becoming Müllerian.”
Reference: Paragraph 14
Rationale: Understanding the role of hormones in sexual development is essential for diagnosing and treating disorders of sexual development.
Question 5: Androgen Insensitivity Syndrome
Topic: Androgen Insensitivity Syndrome (AIS)
Clinical Vignette: A 16-year-old girl presents with primary amenorrhea. She has normal-appearing external genitalia, and laboratory tests reveal elevated testosterone levels.
A. What is the most likely diagnosis?
A) Congenital Adrenal Hyperplasia
B) 5-alpha reductase deficiency
C) Androgen Insensitivity Syndrome
D) Swyer Syndrome
E) Gonadal Dysgenesis
Correct Answer: C) Androgen Insensitivity Syndrome
Explanation: Androgen Insensitivity Syndrome (AIS) leads to a female phenotype despite elevated testosterone levels due to a lack of functional androgen receptors.
Memory Tool: AIS = “All Ineffective Signals” to remember that androgen receptors don’t work.
Reference: Paragraph 22
Rationale: Understanding the differential diagnosis for primary amenorrhea and elevated testosterone is critical for practice and board exams.
Question 6: Turner Syndrome
Topic: Turner Syndrome
Clinical Vignette: A 7-year-old girl presents with short stature and webbed neck. Chromosomal analysis reveals a 45,XO karyotype.
A. Which of the following is NOT a common feature in Turner Syndrome?
A) Short stature
B) Webbed neck
C) Intellectual disability
D) Primary amenorrhea
E) Coarctation of the aorta
Correct Answer: C) Intellectual disability
Explanation: Intellectual disability is not commonly associated with Turner Syndrome.
Memory Tool: “Turn the Web Away from Intellect” to remember that intellectual disability is not a feature.
Reference: Paragraph 28
Rationale: Recognizing the features of Turner Syndrome is essential for diagnosis and management.
Question 7: 5-alpha Reductase Deficiency
Topic: 5-alpha Reductase Deficiency
Clinical Vignette: A newborn male is observed to have ambiguous genitalia. Genetic testing reveals a 5-alpha reductase deficiency.
A. What is the likely phenotypic outcome at puberty?
A) No change in genitalia
B) Masculinization of genitalia
C) Feminization of genitalia
D) Complete regression of genitalia
E) Development of both male and female genitalia
Correct Answer: B) Masculinization of genitalia
Explanation: At puberty, increased testosterone levels can lead to masculinization of genitalia in individuals with 5-alpha reductase deficiency.
Memory Tool: “5-alpha, 5-stars for manhood” to remember the outcome at puberty.
Reference: Paragraph 35
Rationale: Understanding the impact of enzyme deficiencies on sexual development is important for both diagnosis and management.
Question 2: Female Gonadal Structures
Clinical Vignette: A 28-year-old woman is being evaluated for amenorrhea. During the discussion, you touch on the origin of the ovaries.
Multiple Choice Options:
A) Indifferent Gonad
B) Gonadal cortex
C) Gonadal medullar
D) Intermediate mesoderm
Correct Answer: A) Indifferent Gonad
Explanation: The ovary also originates from the Indifferent Gonad during embryological development.
Memory Tool: “Both sexes are indifferent at first!”
Reference Citation: Paragraph 1, Table 10.1 - Disorders of sexual development
Rationale: Understanding the embryological origin of the ovaries helps in diagnosing and treating ovarian-related disorders, including amenorrhea.
Question 3: Male Accessory Ducts
Clinical Vignette: A 50-year-old man with a history of recurrent UTIs undergoes a diagnostic workup. You note the importance of the Wolffian duct in male anatomy.
Multiple Choice Options:
A) Ductus deferens
B) Ejaculatory duct and seminal vesicle
C) Ureter, pelvis, calyces, collecting tubules
D) All of the above
Correct Answer: D) All of the above
Explanation: The Wolffian duct (mesonephric duct) gives rise to the ductus deferens, ejaculatory duct and seminal vesicle, and the ureter, pelvis, calyces, and collecting tubules in males.
Memory Tool: “Wolffian Duct = DEU (Ductus deferens, Ejaculatory duct, Ureter-related structures)”
Reference Citation: Paragraph 1, Table 10.1 - Disorders of sexual development
Rationale: Understanding Wolffian duct development is key for understanding male reproductive and urinary tract anatomy, especially when dealing with UTIs or fertility issues.
Question 4: Female Accessory Ducts
Clinical Vignette: A 29-year-old woman presents with a mass in her lower abdomen. Imaging reveals a paratubal cyst. You explain the embryological origin of this structure.
Multiple Choice Options:
A) Müllerian duct
B) Wolffian duct
C) Gartner duct
D) Genital tubercle
Correct Answer: A) Müllerian duct
Explanation: Paratubal cysts are derived from the Müllerian duct (paramesonephric duct) during embryological development.
Memory Tool: “Müllerian makes the ‘Mass’ (cyst)!”
Reference Citation: Paragraph 1, Table 10.1 - Disorders of sexual development
Rationale: Knowing the embryological origin of a paratubal cyst aids in understanding its diagnosis and potential treatment options.
Question 5: Urinary Structures in Both Genders
Clinical Vignette: A 40-year-old individual presents with kidney stones. You reflect on the embryological origin of the kidney structures.
Multiple Choice Options:
A) Intermediate mesoderm
B) Indifferent gonad
C) Urogenital sinus
D) Wolffian duct
Correct Answer: A) Intermediate mesoderm
Explanation: The kidney structures, including nephrons, originate from the intermediate mesoderm during embryological development.
Memory Tool: “Intermediate mesoderm is the ‘Kid’ in kidney!”
Reference Citation: Paragraph 1, Table 10.1 - Disorders of sexual development
Rationale: Understanding the embryological origin of the kidneys can be useful in the management of renal disorders such as kidney stones.
Question 6: External Female Genitalia
Clinical Vignette: A 25-year-old woman seeks consultation for labiaplasty. You discuss the embryological origin of the labia minora.
Multiple Choice Options:
A) Urethral folds/vestibular folds
B) Labioscrotal swellings
C) Genital tubercle
D) Müllerian duct
Correct Answer: A) Urethral folds/vestibular folds
Explanation: The labia minora originate from the urethral folds/vestibular folds during embryological development.
Memory Tool: “Fold your ‘Minora’!”
Reference Citation: Paragraph 1, Table 10.1 - Disorders of sexual development
Rationale: Understanding the embryological origin of the labia minora is important when discussing surgical interventions like labiaplasty.
Question 7: Male External Genitalia
Clinical Vignette: A 30-year-old man is considering undergoing a penile enlargement procedure. You discuss the embryological origin of the penis.
Multiple Choice Options:
A) Genital tubercle
B) Urethral folds/vestibular folds
C) Labioscrotal swellings
D) Müllerian duct
Correct Answer: A) Genital tubercle
Explanation: The penis originates from the genital tubercle during embryological development.
Memory Tool: “Genital Tubercle turns into a ‘Tower’ (penis)!”
Reference Citation: Paragraph 1, Table 10.1 - Disorders of sexual development
Rationale: Knowing the embryological origin of the penis is essential when discussing surgical interventions like penile enlargement.
Correct Answer: A) Genital tubercle
Explanation: The penis originates from the genital tubercle during embryological development.
Memory Tool: “Genital Tubercle turns into a ‘Tower’ (penis)!”
Reference Citation: Paragraph 1, Table 10.1 - Disorders of sexual development
Rationale: Knowing the embryological origin of the penis is essential when discussing surgical interventions like penile enlargement.
Correct Answer: A) Urogenital sinus
Explanation: The prostate gland originates from the urogenital sinus during embryological development.
Memory Tool: “Urogenital Sinus is the ‘Pro’ in Prostate!”
Reference Citation: Paragraph 1, Table 10.1 - Disorders of sexual development
Rationale: Understanding the embryological origin of the prostate is crucial for the management of disorders like BPH.
Question 9: Female External Genitalia
Clinical Vignette: A 21-year-old woman inquires about the anatomy of her clitoris during a routine gynecological exam.
Multiple Choice Options:
A) Genital tubercle
B) Urethral folds/vestibular folds
C) Labioscrotal swellings
D) Müllerian duct
Correct Answer: A) Genital tubercle
Explanation: The clitoris originates from the genital tubercle during embryological development.
Memory Tool: “Genital Tubercle turns into a ‘Crown’ (clitoris)!”
Reference Citation: Paragraph 1, Table 10.1 - Disorders of sexual development
Rationale: Knowing the embryological origin of the clitoris is important for comprehensive gynecological care.
Question 10: Embryologic Origin of the Scrotum
Clinical Vignette: A 45-year-old man is considering a scrotoplasty. You discuss the embryological origin of the scrotum.
Multiple Choice Options:
A) Labioscrotal swellings
B) Genital tubercle
C) Urethral folds/vestibular folds
D) Müllerian duct
Correct Answer: A) Labioscrotal swellings
Explanation: The scrotum originates from the labioscrotal swellings during embryological development.
Memory Tool: “Labioscrotal swellings create the ‘Sack’ (scrotum)!”
Reference Citation: Paragraph 1, Table 10.1 - Disorders of sexual development
Rationale: Understanding the embryological origin of the scrotum is essential for discussing surgical interventions such as scrotoplasty.
Question 11: Female Lower Urinary Tract
Clinical Vignette: A 50-year-old woman presents with recurrent UTIs. You discuss the embryological origin of her bladder and urethra.
Multiple Choice Options:
A) Urogenital sinus
B) Wolffian duct
C) Müllerian duct
D) Intermediate mesoderm
Correct Answer: A) Urogenital sinus
Explanation: The bladder and urethra in females originate from the urogenital sinus during embryological development.
Memory Tool: “Urogenital Sinus is the ‘Base’ for the Bladder and Urethra!”
Reference Citation: Paragraph 1, Table 10.1 - Disorders of sexual development
Rationale: Knowing the embryological origin of the bladder and urethra can aid in diagnosing and treating UTIs.
Question 12: Male Lower Urinary Tract
Clinical Vignette: A 65-year-old man comes in for an evaluation of lower urinary tract symptoms. You discuss the embryological origin of his bladder and urethra.
Multiple Choice Options:
A) Urogenital sinus
B) Wolffian duct
C) Müllerian duct
D) Intermediate mesoderm
Correct Answer: A) Urogenital sinus
Explanation: Similar to females, the bladder and urethra in males also originate from the urogenital sinus during embryological development.
Memory Tool: “For both sexes, the Urogenital Sinus is the ‘Universal Source’ for the bladder and urethra.”
Reference Citation: Paragraph 1, Table 10.1 - Disorders of sexual development
Rationale: Understanding the embryological origin of the bladder and urethra is crucial in the management of lower urinary tract symptoms.
Question 13: Female Vestibular Glands
Clinical Vignette: A 30-year-old woman presents with discomfort in her vulvar area. On examination, you find an enlarged Bartholin’s gland. You explain its embryological origin.
Multiple Choice Options:
A) Urogenital sinus
B) Müllerian duct
C) Wolffian duct
D) Genital tubercle
Correct Answer: A) Urogenital sinus
Explanation: The greater vestibular glands (Bartholin’s glands) originate from the urogenital sinus during embryological development.
Memory Tool: “Bartholin’s is born from the Base (Urogenital Sinus)!”
Reference Citation: Paragraph 1, Table 10.1 - Disorders of sexual development
Rationale: Understanding the embryological origin of Bartholin’s glands is essential for diagnosing and treating vulvar discomfort.
Question 14: Male Urethral Glands
Clinical Vignette: A 55-year-old man presents with a urethral discharge. You suspect an infection in the Littre’s glands and discuss their embryological origin.
Multiple Choice Options:
A) Urogenital sinus
B) Wolffian duct
C) Müllerian duct
D) Intermediate mesoderm
Correct Answer: A) Urogenital sinus
Explanation: The periurethral glands (Littre) in males originate from the urogenital sinus during embryological development.
Memory Tool: “Littre’s glands are ‘Little’ parts from the Urogenital Sinus!”
Reference Citation: Paragraph 1, Table 10.1 - Disorders of sexual development
Rationale: Knowing the embryological origin of Littre’s glands can aid in diagnosing and treating urethral discharge.
Question 15: Embryological Origin of the Vagina
Clinical Vignette: A 25-year-old woman is considering vaginal rejuvenation surgery. You discuss the embryological origin of her vagina.
Multiple Choice Options:
A) Urogenital sinus
B) Müllerian duct
C) Wolffian duct
D) Genital tubercle
Correct Answer: A) Urogenital sinus
Explanation: The vagina originates from the urogenital sinus during embryological development.
Memory Tool: “The Urogenital Sinus is the ‘Vicinity’ for the Vagina!”
Reference Citation: Paragraph 1, Table 10.1 - Disorders of sexual development
Rationale: Understanding the embryological origin of the vagina is essential when discussing surgical interventions like vaginal rejuvenation.
Question 16: Embryologic Origin of the Uterus
Clinical Vignette: A 32-year-old woman comes in for a fertility consultation. You discuss the embryological origin of her uterus as part of the evaluation.
Multiple Choice Options:
A) Müllerian duct
B) Wolffian duct
C) Urogenital sinus
D) Genital tubercle
Correct Answer: A) Müllerian duct
Explanation: The uterus originates from the Müllerian duct (paramesonephric duct) during embryological development.
Memory Tool: “Müllerian is the ‘Mother’ of the Uterus!”
Reference Citation: Paragraph 1, Table 10.1 - Disorders of sexual development
Rationale: Understanding the embryological origin of the uterus is essential for fertility evaluations and treatments.
Question 17: Embryologic Origin of the Ejaculatory Duct and Seminal Vesicle
Clinical Vignette: A 40-year-old man presents with concerns about low ejaculate volume. You discuss the embryological origin of the ejaculatory duct and seminal vesicle.
Multiple Choice Options:
A) Wolffian duct
B) Müllerian duct
C) Urogenital sinus
D) Genital tubercle
Correct Answer: A) Wolffian duct
Explanation: The ejaculatory duct and seminal vesicle originate from the Wolffian duct (mesonephric duct) during embryological development.
Memory Tool: “Wolffian Duct is the ‘Well’ for the seminal vesicle and ejaculatory duct!”
Reference Citation: Paragraph 1, Table 10.1 - Disorders of sexual development
Rationale: Knowing the embryological origin can help in understanding the causes of low ejaculate volume and guide treatment options.
Question 18: Embryologic Origin of the Labia Majora
Clinical Vignette: A 27-year-old woman is interested in labiaplasty for her labia majora. You discuss the embryological origin of the labia majora.
Multiple Choice Options:
A) Labioscrotal swellings
B) Genital tubercle
C) Urethral folds/vestibular folds
D) Müllerian duct
Correct Answer: A) Labioscrotal swellings
Explanation: The labia majora originate from the labioscrotal swellings during embryological development.
Memory Tool: “Labioscrotal swellings make the ‘Major’ Labia!”
Reference Citation: Paragraph 1, Table 10.1 - Disorders of sexual development
Rationale: Understanding the embryological origin of the labia majora is important when discussing surgical interventions like labiaplasty.
Question 19: Embryologic Origin of the Fallopian Tube
Clinical Vignette: A 35-year-old woman presents with pelvic pain. Imaging reveals a fallopian tube mass. You discuss the embryological origin of the fallopian tube.
Multiple Choice Options:
A) Müllerian duct
B) Wolffian duct
C) Urogenital sinus
D) Genital tubercle
Correct Answer: A) Müllerian duct
Explanation: The fallopian tube originates from the Müllerian duct (paramesonephric duct) during embryological development.
Memory Tool: “Müllerian is the ‘Map’ to the Fallopian tube!”
Reference Citation: Paragraph 1, Table 10.1 - Disorders of sexual development
Rationale: Understanding the embryological origin of the fallopian tube is important for diagnosing and treating pelvic pain related to fallopian tube masses.
Question 20: Embryologic Origin of the Cervix
Clinical Vignette: A 40-year-old woman comes in for a routine pap smear. You discuss the embryological origin of the cervix.
Multiple Choice Options:
A) Müllerian duct
B) Wolffian duct
C) Urogenital sinus
D) Genital tubercle
Correct Answer: A) Müllerian duct
Explanation: The cervix also originates from the Müllerian duct (paramesonephric duct) during embryological development.
Memory Tool: “The ‘Core’ (cervix) comes from Müllerian!”
Reference Citation: Paragraph 1, Table 10.1 - Disorders of sexual development
Rationale: Knowing the embryological origin of the cervix is important for understanding cervical health and the importance of pap smears.
Question 21: Embryologic Origin of the Glans Penis
Clinical Vignette: A 45-year-old man is concerned about decreased penile sensitivity. You discuss the embryological origin of the glans penis.
Multiple Choice Options:
A) Genital tubercle
B) Labioscrotal swellings
C) Urethral folds/vestibular folds
D) Müllerian duct
Correct Answer: A) Genital tubercle
Explanation: The glans penis originates from the genital tubercle during embryological development.
Memory Tool: “The ‘Tip’ (glans penis) starts from the Tubercle!”
Reference Citation: Paragraph 1, Table 10.1 - Disorders of sexual development
Rationale: Understanding the embryological origin of the glans penis can help in diagnosing and treating issues related to penile sensitivity.
Question 22: Embryologic Origin of the Glans Clitoris
Clinical Vignette: A 22-year-old woman presents with concerns about clitoral sensitivity. You discuss the embryological origin of the glans clitoris.
Multiple Choice Options:
A) Genital tubercle
B) Labioscrotal swellings
C) Urethral folds/vestibular folds
D) Müllerian duct
Correct Answer: A) Genital tubercle
Explanation: The glans clitoris originates from the genital tubercle during embryological development.
Memory Tool: “The ‘Tip’ (glans clitoris) also starts from the Tubercle, just like its male counterpart!”
Reference Citation: Paragraph 1, Table 10.1 - Disorders of sexual development
Rationale: Understanding the embryological origin of the glans clitoris can assist in diagnosing and treating issues related to clitoral sensitivity.
Question 23: Embryologic Origin of the Corpora Cavernosa of the Penis
Clinical Vignette: A 50-year-old man presents with erectile dysfunction. You discuss the embryological origin of the corpora cavernosa of the penis.
Multiple Choice Options:
A) Genital tubercle
B) Labioscrotal swellings
C) Urethral folds/vestibular folds
D) Müllerian duct
Correct Answer: A) Genital tubercle
Explanation: The corpora cavernosa of the penis also originate from the genital tubercle during embryological development.
Memory Tool: “For ‘Corpora’ think ‘Core’—and the core starts at the Tubercle!”
Reference Citation: Paragraph 1, Table 10.1 - Disorders of sexual development
Rationale: Knowing the embryological origin of these structures is essential for understanding and managing erectile dysfunction.
Question 24: Embryologic Origin of the Ductus Deferens
Clinical Vignette: A 35-year-old man is considering a vasectomy. You discuss the embryological origin of the ductus deferens.
Multiple Choice Options:
A) Wolffian duct
B) Müllerian duct
C) Urogenital sinus
D) Genital tubercle
Correct Answer: A) Wolffian duct
Explanation: The ductus deferens originates from the Wolffian duct (mesonephric duct) during embryological development.
Memory Tool: “Wolffian is the ‘Way’ for the Ductus Deferens!”
Reference Citation: Paragraph 1, Table 10.1 - Disorders of sexual development
Rationale: Understanding the embryological origin of the ductus deferens is essential when discussing procedures like vasectomy.
Question 25: Embryologic Origin of the Corpora Cavernosa of the Clitoris
Clinical Vignette: A 28-year-old woman presents with concerns about decreased clitoral sensitivity. You discuss the embryological origin of the corpora cavernosa of the clitoris.
Multiple Choice Options:
A) Genital tubercle
B) Labioscrotal swellings
C) Urethral folds/vestibular folds
D) Müllerian duct
Correct Answer: A) Genital tubercle
Explanation: The corpora cavernosa of the clitoris originate from the genital tubercle during embryological development.
Memory Tool: “Clitoral ‘Corpora’ comes from the same ‘Core’ (Genital Tubercle) as its male counterpart!”
Reference Citation: Paragraph 1, Table 10.1 - Disorders of sexual development
Rationale: Understanding the embryological origin is vital for managing issues related to clitoral sensitivity.
Question 26: Embryologic Origin of the Bulb of Vestibule
Clinical Vignette: A 30-year-old woman is considering surgical interventions for her vulvar anatomy. You discuss the embryological origin of the bulb of the vestibule.
Multiple Choice Options:
A) Genital tubercle
B) Labioscrotal swellings
C) Urethral folds/vestibular folds
D) Müllerian duct
Correct Answer: A) Genital tubercle
Explanation: The bulb of the vestibule also originates from the genital tubercle during embryological development.
Memory Tool: “Think ‘Bulb’ and ‘Base’—the base is the Genital Tubercle!”
Reference Citation: Paragraph 1, Table 10.1 - Disorders of sexual development
Rationale: Knowing the embryological origin of the bulb of the vestibule is important when discussing surgical interventions for vulvar anatomy.
Question 1: Topic - Classification and Incidence of Disorders of Sexual Development
Clinical Vignette:
A 14-year-old boy presents to your clinic for a routine check-up. Upon reviewing his family history, it’s noted that one of his male cousins was recently diagnosed with Klinefelter Syndrome.
Multiple-Choice Options:
A) 1/2500
B) 1/20,000
C) 1/600
D) 1/4000–5000
Correct Answer:
C) 1/600
Explanation:
The incidence of classic Klinefelter Syndrome is 1/600 as listed under the classification “Disorders of Gonadal Differentiation and Development.”
Memory Tool:
Remember “Kline-6” to correlate with 1/600 incidence.
Reference Citation:
(Table 10.2, Paragraph 1)
Rationale:
Knowing the incidence is essential for clinical practice as it aids in assessing the likelihood and risk factors for this condition.
Question 2: Topic - Turner Syndrome Pathophysiology
Clinical Vignette:
A neonate girl has been diagnosed with Turner syndrome. The parents are concerned about her future fertility prospects.
Multiple-Choice Options:
A) Bilateral testes
B) Bilateral ovaries
C) Bilateral streak (dysgenetic) gonads
D) One ovary/one testis
orrect Answer:
C) Bilateral streak (dysgenetic) gonads
Explanation:
Turner syndrome is characterized by the presence of bilateral streak (dysgenetic) gonads.
Memory Tool:
Turner’s girls have “Turned Streaks”; remember this phrase to correlate with bilateral streak gonads.
Reference Citation:
(Table 10.2, Paragraph 1)
Rationale:
Understanding the pathophysiology can help in counseling the parents about fertility concerns.
Question 3: Topic - Congenital Adrenal Hyperplasia Pathophysiology
Clinical Vignette:
A newborn is suspected to have congenital adrenal hyperplasia due to ambiguous genitalia. The parents ask what caused this condition.
Multiple-Choice Options:
A) Meiotic nondisjunction
B) Translocation of Y chromosome material to X chromosome
C) Defect of enzymes converting cholesterol to testosterone
D) Inborn error of metabolism in one of the enzymes involved in cortisol production
Correct Answer:
D) Inborn error of metabolism in one of the enzymes involved in cortisol production
Explanation:
Congenital Adrenal Hyperplasia is caused by an inborn error of metabolism in one of the enzymes involved in cortisol production.
Memory Tool:
Remember “CAH-Cortisol Chaos” to understand the metabolic error affecting cortisol production.
Reference Citation:
(Table 10.2, Paragraph 3)
Rationale:
The correct diagnosis is key to appropriate treatment and parental counseling, especially in newborns with ambiguous genitalia.
Question 4: Topic - Ovotesticular DSD Characteristics
Clinical Vignette:
An infant is born with ambiguous genitalia. Chromosomal analysis reveals mosaicism. The parents are wondering what type of gonads their child may have.
Multiple-Choice Options:
A) Bilateral streak (dysgenetic) gonads
B) Two ovotestes or one ovary/one testis
C) Bilateral testes
D) Bilateral ovaries
Correct Answer:
B) Two ovotestes or one ovary/one testis
Explanation:
Ovotesticular DSD is associated with chromosomal patterns like 46,XX, 46,XY, or mosaicism. The presence of gonads can either be two ovotestes or one ovary/one testis.
Memory Tool:
“Ovo” means egg, and “testicular” means testis. Ovotesticular DSD can have both, signified by the name itself.
Reference Citation:
(Table 10.2, Paragraph 2)
Rationale:
It’s important to understand the variety of gonadal presence in ambiguous genitalia conditions, as it will affect future treatment options and parental counseling.
Question 5: Topic - Syndrome of Complete Androgen Insensitivity
Clinical Vignette:
A 17-year-old phenotypic female has primary amenorrhea. Hormone panels show elevated testosterone. Karyotyping reveals 46,XY. What might you suspect?
Multiple-Choice Options:
A) Congenital Adrenal Hyperplasia
B) Syndrome of complete androgen insensitivity
C) 5α-Reductase deficiency
D) Mixed gonadal dysgenesis
Correct Answer:
B) Syndrome of complete androgen insensitivity
Explanation:
Syndrome of complete androgen insensitivity is X-linked and leads to androgen resistance secondary to an abnormality of the androgen receptor. The phenotype is female despite a 46,XY karyotype.
Memory Tool:
Remember “Complete Andro-Insensitivity = Completely Female Phenotype.”
Reference Citation:
(Table 10.2, Paragraph 4)
Rationale:
Early diagnosis is crucial for management and surgical planning, given the atypical presentation.
Question 6: Topic - Leydig Cell Agenesis Pathophysiology
Clinical Vignette:
A neonate boy is found to have micropenis and cryptorchidism. Hormonal assays show low testosterone levels despite normal LH and FSH. What could be the underlying pathology?
Multiple-Choice Options:
A) Leydig cell aplasia or abnormal LH receptor
B) Syndrome of partial androgen insensitivity
C) Defect of enzymes converting cholesterol to testosterone
D) Inborn error of metabolism in one of the enzymes involved in cortisol production
Correct Answer:
A) Leydig cell aplasia or abnormal LH receptor
Explanation:
Leydig Cell Agenesis/Unresponsiveness is characterized by Leydig cell aplasia or abnormal LH receptor, leading to low testosterone levels.
Memory Tool:
Think “Leydig Low-T” to remember the association with low testosterone.
Reference Citation:
(Table 10.2, Paragraph 4)
Question 7: Topic - 46,XX Male Disorder
Clinical Vignette:
A couple comes in concerned that their baby boy was diagnosed as a 46,XX male. The couple asks what caused this genetic makeup.
Multiple-Choice Options:
A) Complete absence of testis-determining factor
B) Meiotic nondisjunction
C) Translocation of Y chromosome material to X chromosome
D) Mutations in SRY gene
Correct Answer:
C) Translocation of Y chromosome material to X chromosome
Explanation:
In a 46,XX male, the Y chromosome material is translocated to an X chromosome, resulting in the development of bilateral testes.
Memory Tool:
Think “XX with a Y-touch” to remember the Y chromosome’s translocation to an X chromosome.
Reference Citation:
(Table 10.2, Paragraph 1)
Rationale:
Understanding the underlying genetics of the disorder helps in providing more precise genetic counseling to parents.
Question 8: Topic - Mayer-Rokitansky-Küster-Hauser Syndrome
Clinical Vignette:
A 16-year-old girl presents with primary amenorrhea. An ultrasound reveals the absence of a uterus. What is the incidence of Mayer-Rokitansky-Küster-Hauser Syndrome?
Multiple-Choice Options:
A) 1/4000–5000
B) 1/2500
C) 1/20,000
D) 1/600
Correct Answer:
A) 1/4000–5000
Explanation:
The incidence of Mayer-Rokitansky-Küster-Hauser Syndrome is 1/4000–5000.
Memory Tool:
Remember “Mayer-4K” to link with its incidence of 1/4000–5000.
Reference Citation:
(Table 10.2, Paragraph 5)
Rationale:
Knowing the incidence helps assess how commonly this condition might present in the clinical setting.
Question 9: Topic - Mixed Gonadal Dysgenesis Gonads
Clinical Vignette:
You are treating a neonate with ambiguous genitalia. Chromosomal analysis indicates most cells are 45,XO/46,XY. What type of gonads would you expect?
Multiple-Choice Options:
A) Bilateral testes
B) Bilateral ovaries
C) Unilateral testis, contralateral streak gonad
D) Bilateral dysgenetic testes
Correct Answer:
C) Unilateral testis, contralateral streak gonad
Explanation:
Mixed gonadal dysgenesis, often found with most cells being 45,XO/46,XY, is associated with the presence of a unilateral testis and a contralateral streak gonad.
Memory Tool:
Think “Mixed Gonads” to remember the mixed-type gonads: one testis and one streak.
Reference Citation:
(Table 10.2, Paragraph 1)
A 25-year-old patient presents with infertility and gynecomastia. Physical examination reveals small testes and long extremities. Karyotype analysis shows 47,XXY. What is the most likely diagnosis?
A. Turner syndrome
B. Klinefelter syndrome
C. 46,XX male
D. 46,XY pure gonadal dysgenesis
Answer: B. Klinefelter syndrome. Klinefelter syndrome is a disorder of gonadal differentiation and development that results from meiotic nondisjunction [Table 10.2]. The classic karyotype is 47,XXY, and patients typically present with small testes, infertility, and gynecomastia
2
. The incidence of Klinefelter syndrome is 1 in 600
2
.
Explanation: The patient’s clinical presentation and karyotype are consistent with Klinefelter syndrome [Table 10.2]. This information is important for urologists to know because Klinefelter syndrome is a common cause of male infertility and can be associated with an increased risk of testicular cancer
2
.
Reference: Table 10.2, Disorders of Gonadal Differentiation and Development
1
A 15-year-old patient presents with primary amenorrhea and a short stature. Physical examination reveals a webbed neck and widely spaced nipples. Karyotype analysis shows 45,X. What is the most likely diagnosis?
A. Turner syndrome
B. Klinefelter syndrome
C. 46,XX male
D. Mixed gonadal dysgenesis
Answer: A. Turner syndrome. Turner syndrome is a form of gonadal dysgenesis that results from the absence or abnormality of one of the X chromosomes [Table 10.2]. The classic karyotype is 45,X, and patients typically present with short stature, primary amenorrhea, and a webbed neck
2
. The incidence of Turner syndrome is 1 in 2500
2
.
Explanation: The patient’s clinical presentation and karyotype are consistent with Turner syndrome [Table 10.2]. This information is important for urologists to know because Turner syndrome can be associated with renal anomalies, cardiovascular abnormalities, and infertility
2
.
Reference: Table 10.2, Gonadal Dysgenesis
1
A 2-day-old patient is found to have ambiguous genitalia. Physical examination reveals a phallus that is intermediate in size between a clitoris and a penis, and the presence of both testicular and ovarian tissue. What is the most likely diagnosis?
A. True hermaphroditism
B. Leydig cell agenesis
C. 5α-reductase deficiency
D. Persistent Müllerian duct syndrome
Answer: A. True hermaphroditism. True hermaphroditism, also known as ovotesticular disorder of sexual development (DSD), is a rare condition in which an individual has both ovarian and testicular tissue [Table 10.2]. Patients with true hermaphroditism can have ambiguous genitalia, and the phallus can be intermediate in size between a clitoris and a penis
2
.
Explanation: The patient’s clinical presentation is consistent with true hermaphroditism [Table 10.2]. This information is important for urologists to know because true hermaphroditism is a rare but important cause of ambiguous genitalia that requires careful evaluation and management
2
.
Reference: Table 10.2, Ovotesticular DSD
1
A 16-year-old patient presents with primary amenorrhea and a short stature. Physical examination reveals a blind vaginal pouch and absent uterus. Karyotype analysis shows 46,XX. What is the most likely diagnosis?
A. Turner syndrome
B. Klinefelter syndrome
C. 46,XX pure gonadal dysgenesis
D. Mayer-Rokitansky-Küster-Hauser syndrome
Answer: D. Mayer-Rokitansky-Küster-Hauser syndrome. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a form of unclassified DSD that results from the absence or underdevelopment of the Müllerian ducts [Table 10.2]. Patients with MRKH syndrome typically present with primary amenorrhea and a blind vaginal pouch
2
. The incidence of MRKH syndrome is 1 in 4000-5000
2
.
Explanation: The patient’s clinical presentation and karyotype are consistent with MRKH syndrome [Table 10.2]. This information is important for urologists to know because MRKH syndrome is a common cause of primary amenorrhea and requires careful evaluation and management
2
.
Reference: Table 10.2, Unclassified DSD
1
A 3-year-old patient presents with ambiguous genitalia. Physical examination reveals a phallus that is intermediate in size between a clitoris and a penis, and the presence of both testicular and ovarian tissue. Karyotype analysis shows 45,X/46,XY. What is the most likely diagnosis?
A. Mixed gonadal dysgenesis
B. Partial gonadal dysgenesis
C. 46,XY pure gonadal dysgenesis
D. True hermaphroditism
Answer: A. Mixed gonadal dysgenesis. Mixed gonadal dysgenesis is a form of gonadal dysgenesis that results from mosaicism for the X and Y chromosomes [Table 10.2]. Patients with mixed gonadal dysgenesis can have ambiguous genitalia and the presence of both testicular and ovarian tissue
2
. The most common karyotype is 45,XO/46,XY
2
.
Explanation: The patient’s clinical presentation and karyotype are consistent with mixed gonadal dysgenesis [Table 10.2]. This information is important for urologists to know because mixed gonadal dysgenesis is a common cause of ambiguous genitalia and requires careful evaluation and management
2
.
Reference: Table 10.2, Gonadal Dysgenesis
1
Question 14: Topic - Embryonic Testicular Regression/Bilateral Vanishing Testes Syndrome Pathophysiology
Clinical Vignette:
A neonate is born with an absence of testicular tissue. Genetic testing confirms a 46,XY karyotype. What is the likely underlying pathology?
Multiple-Choice Options:
A) Bilateral testes
B) Bilateral hemosiderin deposition
C) Bilateral dysgenetic testes
D) Unilateral testis, contralateral streak gonad
Correct Answer:
B) Bilateral hemosiderin deposition
Explanation:
Embryonic Testicular Regression/Bilateral Vanishing Testes Syndrome is marked by a loss of testicular tissue during embryogenesis, with bilateral hemosiderin deposition as the underlying pathology.
Memory Tool:
Think “Vanishing Testes = Hemosiderin Heist” to remember the bilateral hemosiderin deposition.
Reference Citation:
(Table 10.2, Paragraph 1)
Rationale:
Identifying the underlying pathology is vital for advising parents and for any potential surgical intervention.
Question 15: Topic - Disorders of Androgen-Dependent Target Tissue
Clinical Vignette:
A 12-year-old boy presents with gynecomastia. Upon investigation, you discover an X-linked androgen resistance. Which disorder should be suspected?
Multiple-Choice Options:
A) Syndrome of complete androgen insensitivity
B) Syndrome of partial androgen insensitivity
C) Mild androgen insensitivity syndrome
D) It could be any of the above
Correct Answer:
D) It could be any of the above
Explanation:
X-linked androgen resistance can present as complete, partial, or mild androgen insensitivity syndrome. Further investigation is needed to determine the specific subtype.
Memory Tool:
Think “X-Androgen = Varying Insensitivity” to remember the spectrum of androgen insensitivity disorders.
Reference Citation:
(Table 10.2, Paragraph 4)
Rationale:
Understanding the spectrum of disorders allows for more accurate diagnosis and appropriate treatment planning
Question 16: Topic - 46,XX Male Gonads
Clinical Vignette:
A newborn with male genitalia has a surprising karyotype of 46,XX. What kind of gonadal development should you expect?
Multiple-Choice Options:
A) Bilateral testes
B) Bilateral ovaries
C) Unilateral testis, contralateral streak gonad
D) Bilateral dysgenetic testes
Correct Answer:
A) Bilateral testes
Explanation:
In 46,XX Male syndrome, there is a translocation of Y chromosome material to the X chromosome, resulting in the presence of bilateral testes.
Memory Tool:
Think “XX Men” to remember that despite the XX karyotype, they have testes.
Reference Citation:
(Table 10.2, Paragraph 1)
Rationale:
Knowing the gonadal status helps guide medical and surgical management and aids in parental counseling.
Question 18: Topic - Disorders of Testosterone Biosynthesis
Clinical Vignette:
A male newborn is suspected to have a disorder of testosterone biosynthesis. What would be the expected enzymatic deficiency?
Multiple-Choice Options:
A) 21-Hydroxylase
B) 11β-hydroxylase
C) StAR deficiency, 3β-hydroxysteroid dehydrogenase deficiency
D) None of the above
Correct Answer:
C) StAR deficiency, 3β-hydroxysteroid dehydrogenase deficiency
Explanation:
Disorders of Testosterone Biosynthesis, which are variants of Congenital Adrenal Hyperplasia (CAH), include StAR deficiency and 3β-hydroxysteroid dehydrogenase deficiency.
Memory Tool:
Think “Testo-Bio = StAR 3β” to remember the key enzymes involved.
Reference Citation:
(Table 10.2, Paragraph 4)
Rationale:
Knowing the enzyme involved is key for the specific diagnosis and management of this subset of disorders.
Question 19: Topic - Congenital Adrenal Hyperplasia (CAH) Pathophysiology
Clinical Vignette:
A newborn girl has ambiguous genitalia. Lab tests indicate increased testosterone levels. What could be the underlying pathophysiology?
Multiple-Choice Options:
A) Increased cortisol production
B) Inborn error of metabolism in one of the enzymes involved in cortisol production; increased testosterone production
C) X-linked; androgen resistance secondary to abnormality of androgen receptor
D) Abnormality in type II isoenzyme that converts testosterone to DHT
Correct Answer:
B) Inborn error of metabolism in one of the enzymes involved in cortisol production; increased testosterone production
Explanation:
Congenital Adrenal Hyperplasia (CAH) in females could manifest as ambiguous genitalia due to an inborn error of metabolism in one of the enzymes involved in cortisol production, leading to increased testosterone production.
Memory Tool:
Think “CAH = Cortisol Crash, Testosterone Thrash” to remember the altered enzyme pathways leading to increased testosterone.
Reference Citation:
(Table 10.2, Paragraph 3)
Rationale:
Understanding the underlying pathophysiology helps in choosing the correct treatment strategy and in counseling parents.
Question 20: Topic - 5α-Reductase Deficiency
Clinical Vignette:
A male infant has genital ambiguity. Genetic tests indicate a normal 46,XY karyotype. Which enzyme could be deficient?
Multiple-Choice Options:
A) 21-Hydroxylase
B) StAR
C) 5α-Reductase
D) 3β-hydroxysteroid dehydrogenase
Correct Answer:
C) 5α-Reductase
Explanation:
5α-Reductase deficiency leads to an abnormality in type II isoenzyme that converts testosterone to DHT, affecting genital development.
Memory Tool:
Think “5α-Reductase = 5th Avenue Detour” to remember the altered pathway leading to genital ambiguity.
Reference Citation:
(Table 10.2, Paragraph 4)
Rationale:
Enzyme deficiencies are key in the diagnosis and management of sexual development disorders.
Question 21: Topic - Persistent Müllerian Duct Syndrome
Clinical Vignette:
A 3-year-old boy has undescended testes. Ultrasound reveals a uterine-like structure. What is the likely underlying gene or receptor abnormality?
Multiple-Choice Options:
A) AMH gene or receptor
B) SRY gene
C) Androgen receptor
D) LH receptor
Correct Answer:
A) AMH gene or receptor
Explanation:
In Persistent Müllerian Duct Syndrome, the abnormality often lies in the AMH gene or receptor, affecting the regression of the Müllerian ducts.
Memory Tool:
Think “Persistent Müllerian = AMH Anomaly” to remember the likely gene or receptor involved.
Reference Citation:
(Table 10.2, Paragraph 4)
Question 22: Topic - Mixed Gonadal Dysgenesis
Clinical Vignette:
A newborn is found to have ambiguous genitalia and is suspected of having mixed gonadal dysgenesis. What would be the most likely karyotype?
Multiple-Choice Options:
A) 45,X/46,XY
B) 46,XX
C) 46,XY
D) 47,XXY
Correct Answer:
A) 45,XO/46,XY
Explanation:
Mixed gonadal dysgenesis is most commonly associated with a 45,XO/46,XY karyotype.
Memory Tool:
Think “Mixed Gonadal = Mixed Karyo” to remember that the karyotype is mixed too.
Reference Citation:
(Table 10.2, Paragraph 1)
Rationale:
Knowing the karyotype is essential for diagnosis, genetic counseling, and planning management.
Question 23: Topic - Embryonic Testicular Regression/Bilateral Vanishing Testes Syndrome
Clinical Vignette:
A child born with a 46,XY karyotype has no palpable testes. On ultrasound, bilateral hemosiderin deposition is noted. What is the most likely diagnosis?
Multiple-Choice Options:
A) Klinefelter Syndrome
B) Swyer Syndrome
C) Embryonic Testicular Regression/Bilateral Vanishing Testes Syndrome
D) 5α-Reductase Deficiency
Correct Answer:
C) Embryonic Testicular Regression/Bilateral Vanishing Testes Syndrome
Explanation:
Embryonic Testicular Regression/Bilateral Vanishing Testes Syndrome is characterized by a 46,XY karyotype and bilateral hemosiderin deposition where the testes should have been.
Memory Tool:
Think “Vanishing Testes = Hemorrhagic History” to remember the hemosiderin deposition.
Reference Citation:
(Table 10.2, Paragraph 1)
Rationale:
Understanding the possible pathophysiology is critical for accurate diagnosis and informing the treatment plan.
Question 24: Topic - Leydig Cell Agenesis/Unresponsiveness
Clinical Vignette:
A male child with bilateral testes has low testosterone levels. Which could be a likely underlying cellular issue?
Multiple-Choice Options:
A) Leydig cell aplasia or abnormal LH receptor
B) Abnormality in type II isoenzyme that converts testosterone to DHT
C) StAR deficiency
D) 5α-Reductase Deficiency
Correct Answer:
A) Leydig cell aplasia or abnormal LH receptor
Explanation:
In Leydig Cell Agenesis/Unresponsiveness, the issue lies either in the aplasia of Leydig cells or in abnormal LH receptors, affecting testosterone production.
Memory Tool:
Think “Leydig Letdown = LH Loses” to remember the role of Leydig cells and LH receptors.
Reference Citation:
(Table 10.2, Paragraph 4)
Question 25: Topic - Mayer-Rokitansky-Küster-Hauser Syndrome
Clinical Vignette:
A 15-year-old girl has never had her menstrual period. Ultrasound reveals the absence of a uterus but the presence of normal ovaries. What is the most likely diagnosis?
Multiple-Choice Options:
A) Turner Syndrome
B) Congenital Adrenal Hyperplasia
C) Mayer-Rokitansky-Küster-Hauser Syndrome
D) Mixed Gonadal Dysgenesis
Correct Answer:
C) Mayer-Rokitansky-Küster-Hauser Syndrome
Explanation:
Mayer-Rokitansky-Küster-Hauser Syndrome is characterized by the absence of a uterus but the presence of normal bilateral ovaries in individuals with a 46,XX karyotype.
Memory Tool:
Think “Mayer-Rokitansky = Missing Reproductive Kit” to remember the absence of the uterus with this syndrome.
Reference Citation:
(Table 10.2, Paragraph 5)
Rationale:
A precise diagnosis is vital for appropriate management, including hormonal replacement and psychological counseling.
Question 26: Topic - Ovotesticular DSD
Clinical Vignette:
A newborn is found to have both ovarian and testicular tissue. What are the possible karyotypes for this condition?
Multiple-Choice Options:
A) 46,XY
B) 46,XX
C) Both 46,XY and 46,XX
D) 47,XXY
Correct Answer:
C) Both 46,XY and 46,XX
Explanation:
Ovotesticular DSD can manifest with a karyotype of either 46,XX, 46,XY, or even mosaicism.
Memory Tool:
Think “Ovotesticular = Over the Top Karyo” to remember that multiple karyotypes are possible.
Reference Citation:
(Table 10.2, Paragraph 2)
Rationale:
Knowing the range of possible karyotypes is essential for diagnosis and genetic counseling.
Question 27: Topic - Maternal Androgen Excess
Clinical Vignette:
A newborn girl has clitoromegaly. The mother admits to taking androgens during pregnancy. What would be the underlying pathology in the newborn?
Multiple-Choice Options:
A) 21-Hydroxylase Deficiency
B) Maternal Androgen Excess
C) Turner Syndrome
D) 5α-Reductase Deficiency
Correct Answer:
B) Maternal Androgen Excess
Explanation:
Maternal androgen excess could affect fetal development, leading to symptoms like clitoromegaly in female newborns.
Memory Tool:
Think “Maternal Androgen = Made Abnormalities” to remember the effects of maternal hormones on the fetus.
Reference Citation:
(Table 10.2, Paragraph 3)
Rationale:
Identifying the specific cause is crucial for effective counseling and management of the affected newborn.
Question 1: Topic - Clinical Presentation of Disorders of Sexual Development
Clinical Vignette: A 16-year-old female presents with primary amenorrhea and sexual infantilism. Lab results indicate hypergonadotropic hypogonadism.
Multiple Choice Options:
A. Gonadal dysgenesis
B. Leydig cell hypoplasia
C. CAIS
D. PAIS
Correct Answer: A. Gonadal dysgenesis
Explanation: In the table, “Sexual infantilism + hypergonadotropic hypogonadism” points to Gonadal dysgenesis as a differential diagnosis (Table 10.3, Paragraph 1).
Memory Tool: Hyper-Gonad-ism -> “Gonad-al dysgenesis”
Rationale: Understanding the differential diagnoses for amenorrhea and sexual infantilism with hypergonadotropic hypogonadism is crucial for diagnostic accuracy.
Question 2: Topic - Inguinal Hernia in Female Children
Clinical Vignette: A 6-year-old female child presents with an inguinal hernia.
Multiple Choice Options:
A. CAIS
B. 5α-reductase deficiency
C. PAIS
D. Disorders of testosterone biosynthesis
All of the above
Question 3: Topic - Virilization of Females in Childhood
Clinical Vignette: A 7-year-old girl shows signs of virilization, including facial hair and deepening voice.
Multiple Choice Options:
A. Gonadal dysgenesis
B. CAIS
C. Nonclassic CAH
D. Leydig cell hypoplasia
Correct Answer: C. Nonclassic CAH
Explanation: Virilization of Female in Childhood is specifically associated with Nonclassic CAH according to Table 10.3 (Table 10.3, Paragraph 4).
Memory Tool: Nonclassic Cars Are Hairy -> “Nonclassic CAH”
Rationale: Virilization symptoms may indicate hormonal imbalances that could have long-term consequences; early diagnosis and treatment are key.
Question 1: Topic - 21-Hydroxylase Deficiency
Clinical Vignette:
A 2-week old infant presents with salt-wasting symptoms and signs of adrenal crisis. Blood tests are ordered.
Multiple-Choice Options:
A. Elevated plasma dehydroepiandrosterone (DHEA)
B. Elevated plasma 17-hydroxyprogesterone
C. Elevated plasma 11-Deoxycortisol
D. None of the above
Correct Answer:
B. Elevated plasma 17-hydroxyprogesterone
Explanation:
In 21-Hydroxylase deficiency, one of the most classic tests for diagnosis is elevated levels of plasma 17-hydroxyprogesterone. This enzyme deficiency is known for causing virilization in females and salt-wasting, which could lead to infantile adrenal crisis.
Memory Tool:
21 = Salt & Girls (21-Hydroxylase causes Salt wasting and Virilization in Girls)
Reference Citation:
Paragraph 1, Table 10.4
Rationale for Importance:
21-Hydroxylase deficiency is a commonly tested topic due to its significant clinical manifestations, and understanding the appropriate diagnostic test is crucial for timely management.
Question 2: Topic - 11β-Hydroxylase Deficiency
Clinical Vignette:
A 16-year-old female presents with late-onset virilization and hypertension. Blood tests are recommended.
Multiple-Choice Options:
A. Elevated plasma 17-hydroxypregnenolone
B. Elevated plasma 17-hydroxyprogesterone
C. Elevated plasma 11-Deoxycortisol and 11-Deoxycorticosterone
D. Elevated plasma dehydroepiandrosterone (DHEA)
Correct Answer:
C. Elevated plasma 11-Deoxycortisol and 11-Deoxycorticosterone
Explanation:
For 11β-Hydroxylase deficiency, the test for diagnosis is elevated levels of plasma 11-Deoxycortisol and 11-Deoxycorticosterone. This deficiency can lead to late-onset virilization and hypertension.
Memory Tool:
11 = Late & High (11β-Hydroxylase leads to Late-onset virilization and High blood pressure)
Reference Citation:
Paragraph 2, Table 10.4
Rationale for Importance:
Understanding the clinical features and diagnostic markers of 11β-Hydroxylase deficiency is essential for the management of symptoms like hypertension, which can be life-threatening.
Question 3: Topic - 3β-Hydroxysteroid dehydrogenase Deficiency
Clinical Vignette:
A 6-month-old girl is brought in with mild clitoromegaly and labial fusion. Blood tests are ordered.
Multiple-Choice Options:
A. Elevated plasma 17-hydroxypregnenolone and plasma DHEA
B. Elevated plasma 11-Deoxycortisol
C. Elevated plasma 17-hydroxyprogesterone
D. None of the above
Correct Answer:
A. Elevated plasma 17-hydroxypregnenolone and plasma DHEA
Explanation:
For 3β-Hydroxysteroid dehydrogenase deficiency, the diagnostic tests are elevated plasma 17-hydroxypregnenolone and plasma DHEA levels. Clinical features include mild clitoromegaly and labial fusion.
Memory Tool:
3β = mild & blend (3β-Hydroxysteroid causes Mild clitoromegaly and Labial fusion)
Reference Citation:
Paragraph 3, Table 10.4
Rationale for Importance:
3β-Hydroxysteroid dehydrogenase deficiency is important to diagnose early as it can lead to aldosterone and cortisol deficiency, affecting electrolyte balance and energy metabolism.
