What factors determine sexual differentiation in a fetus?
Sex chromosomes, gonads, and hormone-induced organ growth.
Sexual differentiation in a fetus is determined by:
A) Nutrition
B) Sex chromosomes, gonads, and hormones
C) Physical activity
D) Temperature
Correct Answer: B
Q: A newborn shows ambiguous genitalia at birth. What is the best initial investigation?
A) Chromosomal analysis (karyotyping)
Correct Answer: Chromosomal analysis
What role does the SRY gene play in sexual development?
The SRY gene on the Y chromosome directs the undifferentiated gonad to become a testis.
Q: Which gene is essential for male gonadal development?
A) XX gene
B) SRY gene
C) YY gene
D) TT gene
Correct Answer: B
Front: At what week does gonadal differentiation begin?
Around the 7th week of gestation.
What is the role of testosterone in male genital development?
Testosterone promotes male genital development, especially under the influence of Leydig cells.
Q: What is the gonadal outcome in the absence of a Y chromosome?
A) Testes
B) Ovary
C) Wolffian duct
D) Mullerian duct
Correct Answer: B
Q: When does a female fetus reach its maximum number of primordial follicles?
A) At birth
B) During puberty
C) 20 weeks of gestation
D) 30 weeks of gestation
Correct Answer: C
What do Wolffian ducts develop into under the influence of testosterone?
Back: They develop into male internal genitalia like the epididymis, vas deferens, and seminal vesicles.
A) 2nd week
B) 4th week
C) 6th week
D) 8th week
Correct Answer: B
Q2: Primordial germ cells migrate to the gonadal ridges by which week?
A) 3rd week
B) 5th week
C) 7th week
D) 9th week
Correct Answer: B
Q1: Primitive sex cords form in the embryo at which week?
A) 4th week
B) 6th week
C) 8th week
D) 10th week
Correct Answer: B
Q2: By which week does gonadal differentiation occur?
A) 5th week
B) 7th week
C) 9th week
D) 11th wee
Correct Answer: B
Q1: By which week are the Müllerian and Wolffian ducts present in all embryos?
A) 4th week
B) 6th week
C) 8th week
D) 10th week
Correct Answer: C
Front: How are the uterus and fallopian tubes formed?
Back: By the fusion of paramesonephric (Müllerian) ducts.
Q1: The external genitalia can be distinguished as male or female by which week?
A) 9th week
B) 12th week
C) 16th week
D) 20th week
Correct Answer: C
Q2: What hormone influences the development of male external genitalia?
A) Estrogen
B) Dihydrotestosterone
C) Progesterone
D) Cortisol
Correct Answer: B
Q1: What is the role of Leydig cells in male development?
A) Inhibit Müllerian ducts
B) Produce testosterone
C) Develop the prostate
D) Form ovaries
Correct Answer: B
Q2: Testosterone impacts the development of:
A) Female external genitalia
B) Male genitalia and secondary characteristics
C) Mullerian ducts
D) Both male and female genitalia equally
Correct Answer: B
Front: What does the bipotential gonad develop into in the presence of the Y chromosome?
Back: It develops into a testis.
Front: What are Disorders of Sex Development (DSD)?
Back: Conditions where the typical development of chromosomal, gonadal, or anatomical sex does not occur.
Front: Name three categories of DSD.
Back: (1) Sex chromosome DSD, (2) 46,XY DSD, and (3) 46,XX DSD.
Q2: DSDs may result from abnormalities in:
A) Nervous system
B) Chromosomal, gonadal, or hormonal development
C) Digestive system
D) Cardiovascular structure
Correct Answer: B
Q: An infant is diagnosed with ambiguous genitalia at birth. What is the first line of investigation?
A) Karyotyping
B) Ultrasound
C) Physical therapy
D) Routine blood test
Correct Answer: A
Q1: Intersexuality involves:
A) Clear male or female genitalia
B) Ambiguous or mixed sex characteristics
C) Only male characteristics
D) None of the above
Correct Answer: B
Q1: Which of the following is NOT a classification of DSD?
A) 46,XY DSD
B) 46,XX DSD
C) Turner syndrome
D) Sex chromosome DSD
Correct Answe
What are the common causes of DSD?
Disruptions in gonadal differentiation, abnormal fetal sex steroid production or action.
What is female pseudohermaphroditism?
Back: A condition where an individual with female chromosomes (46,XX) has masculinized external genitalia due to excess androgen exposure.
Q1: Female pseudohermaphroditism is typically caused by:
A) Chromosomal abnormalities
B) Excess androgen exposure
C) Lack of hormone influence
D) None of the above
Correct Answer: B
Front: What causes male pseudohermaphroditism?
Back: Primary gonadal deficit, androgen insensitivity, or defects in testosterone synthesis.
Front: What is Turner syndrome?
Back: A condition in females characterized by a 45,XO karyotype leading to short stature and ovarian dysgenesis.
What is mixed gonadal dysgenesis?
Back: A condition where an individual has both ovarian and testicular tissue, often with ambiguous genitalia.
Q1: Mixed gonadal dysgenesis can include:
A) Only testes
B) Only ovaries
C) Both ovarian and testicular tissue
D) None of the above
Correct Answer: C
Front: What are common investigations for DSD?
Back: Karyotyping, examination of genitalia, imaging, hormone analysis, and psychological assessment.
Q1: Which of the following is a sign of ambiguous genitalia?
A) Fully developed male genitalia
B) Hypospadias and undescended testes
C) Normal female genitalia
D) Both A and C
Correct Answer: B
Correct Answer:
Correct Answer: C
Front: What hormones are typically analyzed in DSD investigations?
Back: Testosterone, estrogen, AMH, and other sex hormones.
Q1: Which hormone is crucial to evaluate in cases of suspected androgen insensitivity?
A) Estrogen
B) Testosterone
C) Cortisol
D) Progesterone
Correct Answer: B
What internal genitalia are absent in Complete Androgen Insensitivity Syndrome (CAIS)?
Back: Uterus and fallopian tubes
What is Androgen Insensitivity Syndrome?
A condition where the body cannot respond to androgens, leading to female characteristics despite an XY karyotype.
Q1: Which chromosome pattern is associated with AIS?
A) 46,XX
B) 46,XY
C) 47,XXY
D) 45,XO
Correct Answer:
What is Swyer syndrome?
A form of gonadal dysgenesis in 46,XY individuals where the gonads remain as streak gonads, and female genitalia develop.
Q1: In Swyer syndrome, which structure develops normally?
A) Testes
B) Streak gonads
C) Uterus
D) Male genitalia
Correct Answer: C
Primary amenorrhea may be caused by:
A) Turner syndrome
B) AIS
C) Swyer syndrome
D) All of the above
Correct Answer: D
Q1: The enzyme deficiency commonly associated with ambiguous genitalia is:
A) 17-hydroxylase
B) 21-hydroxylase
C) 5-alpha reductase
D) Androgen synthase
Correct Answer: B
Front: What is the main treatment for CAH?
Cortisol replacement therapy and androgen control.
Q1: Treatment for CAH aims to:
A) Increase estrogen levels
B) Replace cortisol and reduce androgen effects
C) Eliminate testosterone
D) None of the above
Correct Answer: B
What is a common cause of ambiguous genitalia in females?
Congenital adrenal hyperplasia, often due to 21-hydroxylase deficiency.
Which karyotype is commonly associated with CAH in females?
Back: 46,Which karyotype is commonly associated with CAH in females?
Back: 46,XX..
Q1: CAH leads to increased production of:
A) Estrogen
B) Androgens
C) Progesterone
D) Insulin
Correct Answer: B
What are typical genital characteristics in females with CAH?
Virilized or masculinized external genitalia, but female internal genitalia like uterus and ovaries.
Q1: In CAH, the internal genitalia in females typically includes:
A) Testes
B) Scrotum
C) Uterus and ovaries
D) Epididymis
Correct Answer: C
Q1: Which prenatal treatment may reduce CAH symptoms in a female fetus?
A) Testosterone
B) Dexamethasone
C) Estrogen
D) Progesterone
Correct Answer: B
ملخص: يناقش حالة Mixed Gonadal Dysgenesis، والتي قد تتضمن خصية على جانب واحد ومبيض أو غدة غير مكتملة على الجانب الآخر.
Front: What does mixed gonadal dysgenesis typically involve?
Presence of one testis and either a streak gonad or an ovary on the opposite side.
Q1: Mixed gonadal dysgenesis often leads to:
A) Normal male genitalia
B) Ambiguous genitalia
C) Only female genitalia
D) Only male genitalia
Correct Answer: B
ملخص: يوضح True Hermaphroditism الذي يشمل تواجد أنسجة مبيضية وخصوية معاً في نفس الفرد.
Q1: True hermaphroditism is characterized by the presence of:
A) Only testes
B) Both ovarian and testicular tissues
C) Only ovaries
D) No gonadal tissue
Correct Answer: B
Front: Name a common long-term complication in individuals with DSD.
Osteoporosis or psychological challenges.
Front: What physical characteristics are associated with Turner syndrome?
Back: Short stature, webbed neck, shield chest, and gonadal dysgenesis.
Q1: Klinefelter syndrome often results in:
A) Ovarian dysgenesis
B) Male infertility
C) Short stature
D) Webbed neck
Correct Answer: B
Q1: The primary diagnostic tool for Turner and Klinefelter syndromes is:
A) Hormone assay
B) Physical examination
C) Karyotype analysis
D) Ultrasound
Correct Answer: C
Front: What are common treatments for Turner syndrome?
Back: Growth hormone therapy and estrogen replacement.
Which hormone is essential for treating Turner syndrome to induce puberty?
A) Cortisol
B) Estrogen
C) Testosterone
D) Thyroid hormone
Correct Answer: B
What is a primary treatment for Klinefelter syndrome?
Testosterone replacement therapy.
Q1: Which fertility treatment can help women with Turner syndrome have children?
A) Natural conception
B) Testosterone therapy
C) IVF with donor egg
D) Growth hormone therapy
Correct Answer: C
Q1: One major complication associated with untreated DSD is:
A) Improved fertility
B) Increased bone density
C) Psychological distress
D) None of the above
Correct Answer: C