Deck 16: Development of the Urogenital System
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Deck 16: Development of the Urogenital System
1
A young mother brings her 5-year-old girl who is still in diapers to the pediatrician's office.The mother complains that the infant is constantly wetting her diapers even though the girl is potty-trained.Upon examination,you notice what appears to be urine coming from the vagina through a small orifice located in the upper vaginal wall.What is your initial diagnosis?
A) Rectovaginal fistula
B) Ectopic ureter
C) Rectovesicular fistula
D) Rectourethral fistula
E) Unicornate uterus
A) Rectovaginal fistula
B) Ectopic ureter
C) Rectovesicular fistula
D) Rectourethral fistula
E) Unicornate uterus
B
2
Mutations in particular genes can cause or increase the risk of specific congenital anomalies of the urogenital system.Which gene when mutated is most likely to be responsible for autosomal dominant polycystic kidney disease?
A) CFTR
B) AMH RECEPTOR
C) WT1
D) 5α F.-REDUCTASE
E) PDK1
A) CFTR
B) AMH RECEPTOR
C) WT1
D) 5α F.-REDUCTASE
E) PDK1
E
3
The collecting tubules of the definitive kidney are derived from what tissue (cells)?
A) Metanephric blastema
B) Ureteric buds
C) Uriniferous tubules
D) Renal corpuscles
A) Metanephric blastema
B) Ureteric buds
C) Uriniferous tubules
D) Renal corpuscles
B
4
Which developing kidney system ultimately becomes the definite kidney in humans?
A) Pronephric kidney
B) Mesonephric kidney
C) Metanephric kidney
D) Nephrogenic kidney
A) Pronephric kidney
B) Mesonephric kidney
C) Metanephric kidney
D) Nephrogenic kidney
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5
Mutations in particular genes can cause or increase the risk of specific congenital anomalies of the urogenital system.Which gene when mutated is most likely to be responsible for male pseudohermaphrodism?
A) CFTR
B) AMH RECEPTOR
C) WT1
D) 5α F.-REDUCTASE
E) PDK1
A) CFTR
B) AMH RECEPTOR
C) WT1
D) 5α F.-REDUCTASE
E) PDK1
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6
An ultrasound of a 7-month-pregnant woman reveals the presence of oligohydramnios.Closer examination suggests that the fetus has bilateral renal agenesis.What could have led to the development of this congenital anomaly?
A) There was a loss of blastemal/ureteric bud interactions during renal development.
B) There was a loss of angiogenesis from the dorsal aorta into the intermediate mesoderm.
C) WT1 was expressed in the intermediate mesoderm but should not have been.
D) RET was inappropriately expressed within the mesonephric duct.
A) There was a loss of blastemal/ureteric bud interactions during renal development.
B) There was a loss of angiogenesis from the dorsal aorta into the intermediate mesoderm.
C) WT1 was expressed in the intermediate mesoderm but should not have been.
D) RET was inappropriately expressed within the mesonephric duct.
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7
Mutations in particular genes can cause or increase the risk of specific congenital anomalies of the urogenital system.Which gene when mutated is most likely to be responsible for persistent müllerian syndrome?
A) CFTR
B) AMH RECEPTOR
C) WT1
D) 5α F.-REDUCTASE
E) PDK1
A) CFTR
B) AMH RECEPTOR
C) WT1
D) 5α F.-REDUCTASE
E) PDK1
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8
Mutations in particular genes can cause or increase the risk of specific congenital anomalies of the urogenital system.Which gene when mutated is most likely to be responsible for congenital bilateral aplasia of the vas deferens?
A) CFTR
B) AMH RECEPTOR
C) WT1
D) 5α F.-REDUCTASE
E) PDK1
A) CFTR
B) AMH RECEPTOR
C) WT1
D) 5α F.-REDUCTASE
E) PDK1
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9
What gene is thought to be a direct downstream target of SRY expression?
A) SOX9
B) WF1
C) AMH
D) DESERT HEDGEHOG
E) WNT4
A) SOX9
B) WF1
C) AMH
D) DESERT HEDGEHOG
E) WNT4
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10
What renal structure arises via a mesenchymal-to-epithelial transition?
A) The nephron
B) Glomerular capillaries
C) The collecting tubules
D) The major and minor calyxes
A) The nephron
B) Glomerular capillaries
C) The collecting tubules
D) The major and minor calyxes
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11
Mutations in particular genes can cause or increase the risk of specific congenital anomalies of the urogenital system.Which gene when mutated is most likely to be responsible for glomerulopathy associated with Denys-Drash syndrome?
A) CFTR
B) AMH RECEPTOR
C) WT1
D) 5α F.-REDUCTASE
E) PDK1
A) CFTR
B) AMH RECEPTOR
C) WT1
D) 5α F.-REDUCTASE
E) PDK1
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12
A 4-year-old child was diagnosed with nephroblastoma,a kidney tumor.Subsequent genetic analysis of the child showed the presence of a mutation in a gene known to be associated with the development of this tumor but having a required role in renal development.What gene is it?
A) WT1 (Wilms' tumor suppressor)
B) RET
C) AMH
D) SOX9
E) SHH
A) WT1 (Wilms' tumor suppressor)
B) RET
C) AMH
D) SOX9
E) SHH
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13
What effect would a loss of Shh expression within the urethral plate have on genital development?
A) Development of enlarged genital tubercle
B) Hypospadia
C) An increase in Hoxa13 and Hoxd3 expression in the genital tubercle
D) An increase in Fgf8 expression in the urethral plate
A) Development of enlarged genital tubercle
B) Hypospadia
C) An increase in Hoxa13 and Hoxd3 expression in the genital tubercle
D) An increase in Fgf8 expression in the urethral plate
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