Podcast
Questions and Answers
What is the primary role of the SRY gene during sexual differentiation?
What is the primary role of the SRY gene during sexual differentiation?
- To control the migration of primordial germ cells
- To initiate the cascade resulting in male sexual differentiation (correct)
- To promote ovary development in XX embryos
- To regulate hormone secretion from the adrenal glands
What is the fate of the medulla in XX embryos?
What is the fate of the medulla in XX embryos?
- It regresses while the cortex develops into the ovary (correct)
- It forms a structure identical to the vas deferens
- It converts to mesonephric ducts
- It develops into the testes
Which cells produce testosterone and play a critical role in male differentiation?
Which cells produce testosterone and play a critical role in male differentiation?
- Follicular cells
- Primordial germ cells
- Sertoli cells
- Leydig cells (correct)
Which of the following structures forms as a result of the retention of Wolffian ducts in males?
Which of the following structures forms as a result of the retention of Wolffian ducts in males?
What occurs when mutations in the SOX 9 gene are present?
What occurs when mutations in the SOX 9 gene are present?
The primordial germ cells migrate to which location during development?
The primordial germ cells migrate to which location during development?
What is the role of the WT-1 gene in gonadal development?
What is the role of the WT-1 gene in gonadal development?
DAX-1 is involved in which aspect of sex determination?
DAX-1 is involved in which aspect of sex determination?
What influences the formation of efferent ductules from the mesonephros tubules?
What influences the formation of efferent ductules from the mesonephros tubules?
What structure do the mesonephric ducts develop into in males?
What structure do the mesonephric ducts develop into in males?
In the absence of testosterone, which ducts degenerate in females?
In the absence of testosterone, which ducts degenerate in females?
Which structure is formed by the caudal fusion of the Müllerian ducts?
Which structure is formed by the caudal fusion of the Müllerian ducts?
What does the unfused cranial portion of the paramesonephric ducts develop into?
What does the unfused cranial portion of the paramesonephric ducts develop into?
What forms a slight thickening on the posterior wall of the pelvic urethra?
What forms a slight thickening on the posterior wall of the pelvic urethra?
Which part of the uterus is contributed by the superior aspect of the uterovaginal canal?
Which part of the uterus is contributed by the superior aspect of the uterovaginal canal?
What separates the vagina and urinary system during development?
What separates the vagina and urinary system during development?
What hormone is secreted by Sertoli cells that maintains germ cells in meiotic arrest?
What hormone is secreted by Sertoli cells that maintains germ cells in meiotic arrest?
Which cells give rise to sperm after puberty?
Which cells give rise to sperm after puberty?
What structure serves as the precursor to the seminiferous tubules in the male gonad?
What structure serves as the precursor to the seminiferous tubules in the male gonad?
What happens to primordial germ cells during their association with the developing seminiferous tubules?
What happens to primordial germ cells during their association with the developing seminiferous tubules?
Which hormone is responsible for the differentiation of mesenchymal cells into Leydig cells?
Which hormone is responsible for the differentiation of mesenchymal cells into Leydig cells?
What is the primary function of Sertoli cells in the seminiferous tubules?
What is the primary function of Sertoli cells in the seminiferous tubules?
During embryonic development, what event occurs when the primary sex cords enter the medulla?
During embryonic development, what event occurs when the primary sex cords enter the medulla?
At what stage do the seminiferous tubules begin to form?
At what stage do the seminiferous tubules begin to form?
What must happen to the released egg at maturity since there is no contact with the ovarian follicles during development?
What must happen to the released egg at maturity since there is no contact with the ovarian follicles during development?
During which week of development does the elongation of the genital tubercle begin in males?
During which week of development does the elongation of the genital tubercle begin in males?
What are the components from which the external genitalia form during development?
What are the components from which the external genitalia form during development?
How are the external genitalia structured in males and females until about the eighth week of development?
How are the external genitalia structured in males and females until about the eighth week of development?
Which hormone is crucial for the morphological changes during the formation of male external genitalia?
Which hormone is crucial for the morphological changes during the formation of male external genitalia?
What structure is formed from the fusion of the urogenital folds in males?
What structure is formed from the fusion of the urogenital folds in males?
What is formed from the labioscrotal folds during male genital development?
What is formed from the labioscrotal folds during male genital development?
Where do the paramesonephric ducts fuse during female reproductive development?
Where do the paramesonephric ducts fuse during female reproductive development?
What condition is characterized by 46 XY individuals who are poorly virilized due to insufficient testosterone production?
What condition is characterized by 46 XY individuals who are poorly virilized due to insufficient testosterone production?
What is the term for the condition where there is an inability to convert testosterone to dihydrotestosterone?
What is the term for the condition where there is an inability to convert testosterone to dihydrotestosterone?
What is the genetic pattern associated with androgen insufficiency syndrome?
What is the genetic pattern associated with androgen insufficiency syndrome?
Which hormone is primarily involved in the development of male secondary sex characteristics during puberty for those with 5 alpha-reductase deficiency?
Which hormone is primarily involved in the development of male secondary sex characteristics during puberty for those with 5 alpha-reductase deficiency?
What is the result of diminished response to dihydrotestosterone at the end organ in 46 XY individuals?
What is the result of diminished response to dihydrotestosterone at the end organ in 46 XY individuals?
What do the genital folds and swellings of a person with end organ insensitivity syndrome appear like?
What do the genital folds and swellings of a person with end organ insensitivity syndrome appear like?
In cases of 5 alpha-reductase deficiency, what happens when testosterone production begins at puberty?
In cases of 5 alpha-reductase deficiency, what happens when testosterone production begins at puberty?
What is a critical intervention that can be performed for a child with androgen insufficiency syndrome?
What is a critical intervention that can be performed for a child with androgen insufficiency syndrome?
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Study Notes
Sex Determination
- SRY gene on the Y chromosome initiates male sexual differentiation
- SOX9 gene on the autosome is structurally related to SRY and important for testes differentiation
- Mutations in SOX9 can result in sex reversal
- WT-1 gene is a transcription factor involved in urogenital ridge determination
- Wolffian ducts develop into male internal genitalia
- Paramesonephric ducts develop into female internal genitalia
- Primordial germ cells (PGCs) are the precursors for gametes (sperm and eggs)
- PGCs migrate from the epiblast to the gonadal ridge
Testis Development
- SRY gene activates the transcription factor SOX9
- SOX9 promotes the development of the male gonad - testes
- The primary sex cords in the medullary region of the developing testis differentiate into seminiferous tubules
- Leydig cells are derived from mesenchyme and secrete testosterone
- Sertoli cells develop from the primary sex cords and produce anti-Mullerian hormone (AMH)
- Testosterone promotes Wollfian duct differentiation and AMH causes regression of the Mullerian ducts.
- The testes produce testosterone leading to the development of the epididymis and vas deferens
Ovary Development
- In the absence of SRY, the cortex of the gonadal ridge develops into the ovary
- The medulla of the gonadal ridge regresses
- The paramesonephric ducts differentiate into the fallopian tubes, uterus, and upper vagina
- The sinusal tubercle forms a thickening in the posterior wall of the pelvic urethra.
- The sinusal bulbs develop from it, separating the vagina from the urinary system
External Genitalia
- Genital tubercle, labrioscrotal folds and genital fold develop the external genitalia
- In males:
- Genital tubercle elongates and forms the penis
- Fusion of genital folds forms the penile urethra
- Labrioscrotal folds develop into the scrotum.
- In females:
- Genital tubercle forms the clitoris
- Genital folds develop into the labia minora
- Labrioscrotal folds develop into the labia majora
Sex Reversal
- Male pseudohermaphroditism: occurs when 46 XY individuals have poorly virilized genitalia
- Causes of Pseudohermaphroditism:
- Androgen insensitivity syndrome: Insensitivity to androgens (T and DHT) at the end organ; leads to female-like genitalia.
- 5 alpha-reductase deficiency: The inability to convert testosterone to dihydrotestosterone (DHT); leads to female-like genitalia until puberty when testosterone levels increase.
- Androgen insufficiency syndrome: Insufficient production of testosterone; leads to underdeveloped male genitalia.
- Aromatase converts testosterone to estradiol.
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