GDNF and Ureteric Bud Growth
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Questions and Answers

What is the most common cause of ambiguous genitalia in genetically female individuals?

  • Congenital adrenal hyperplasia (CAH) (correct)
  • Polycystic ovarian syndrome
  • Turner syndrome
  • Androgen insensitivity syndrome

    • What condition is characterized by the failure of one or both testes to descend?

  • Ectopic testis
  • Hypospadias
  • Varicocele
  • Cryptorchidism (correct)

    • What complications may arise if the connection between the abdominal cavity and the scrotal sac remains open?

  • Hydrocele formation
  • Direct inguinal hernia
  • Congenital indirect inguinal hernia (correct)
  • Ovarian torsion

    • What happens if there is irregular obliteration of the processus vaginalis?

    <p>Development of hydrocele</p> Signup and view all the answers

    Which hormone's excessive production leads to the masculinization of external genitalia in females?

    <p>Androstenedione</p> Signup and view all the answers

    What genetic condition is characterized by renal failure occurring in infancy or childhood?

    <p>Denys-Drash syndrome</p> Signup and view all the answers

    Which syndrome is associated with Wilms tumor and aniridia?

    <p>WAGR syndrome</p> Signup and view all the answers

    What is a common feature of autosomal dominant polycystic kidney disease?

    <p>Cysts form but renal failure typically does not occur until adulthood</p> Signup and view all the answers

    Which of the following disorders is recognized as a ciliopathy?

    <p>Bardet-Biedl syndrome</p> Signup and view all the answers

    What is a consequence of the failure of the collecting ducts to form in multicystic dysplastic kidney?

    <p>Severe malformation requiring early dialysis or transplantation</p> Signup and view all the answers

    What developmental abnormality is associated with renal dysplasias and agenesis?

    <p>Severe malformation of kidney structures</p> Signup and view all the answers

    Which factor is NOT typically associated with autosomal dominant conditions?

    <p>Greater degree of progression than recessive types</p> Signup and view all the answers

    Which protein malfunction is NOT involved in the ciliopathy disorders mentioned?

    <p>Nephron growth factors</p> Signup and view all the answers

    What is the primary function of GDNF produced by metanephric mesoderm?

    <p>Induction of ureteric bud branching and growth</p> Signup and view all the answers

    Which gene is associated with Townes-Brock syndrome and affects GDNF expression?

    <p>SALLI</p> Signup and view all the answers

    What are the expected presentations in a baby with bilateral renal agenesis?

    <p>Anuria, oligohydramnios, and hypoplastic lungs</p> Signup and view all the answers

    Which of the following conditions is caused by a mutation in the PAX2 gene?

    <p>Renal coloboma syndrome</p> Signup and view all the answers

    What is the incidence rate of bilateral renal agenesis in births?

    <p>1 in 10,000</p> Signup and view all the answers

    Which syndrome is characterized by mutations in the EYAI gene?

    <p>Branchiootorenal syndrome</p> Signup and view all the answers

    What condition is characterized by decreased volume of amniotic fluid?

    <p>Oligohydramnios</p> Signup and view all the answers

    Which gene is expressed by the mesenchyme to enable kidney tissue to respond to signaling?

    <p>WT1</p> Signup and view all the answers

    What structure is formed from the fused paramesonephric ducts?

    <p>Corpus and cervix of the uterus</p> Signup and view all the answers

    Which hormone is responsible for the degeneration of the paramesonephric ducts in males?

    <p>Anti-Müllerian hormone (AMH)</p> Signup and view all the answers

    At what point do the testes begin their descent during fetal development?

    <p>Middle of the second month</p> Signup and view all the answers

    What are the broad ligaments of the uterus derived from?

    <p>Broad transverse pelvic folds</p> Signup and view all the answers

    Which structure serves as the entry point to the inguinal canal for the testes?

    <p>Deep inguinal ring</p> Signup and view all the answers

    Which of the following correctly describes the uterine tube's position?

    <p>Lies in the upper border of the broad ligament</p> Signup and view all the answers

    What is the origin of the peritoneal layer that covers the testis?

    <p>Reflected fold of the processus vaginalis</p> Signup and view all the answers

    The mesonephric ducts elongate and become highly convoluted to form which of the following structures?

    <p>Ductus deferens</p> Signup and view all the answers

    What is the primary role of Anti-Müllerian hormone (AMH) in female development?

    <p>Inhibit the development of mesonephric ducts</p> Signup and view all the answers

    Which of the following ligaments is formed from the caudal attachment of the testis?

    <p>Caudal genital ligament</p> Signup and view all the answers

    What anatomical relationship allows the testes to pass through the abdominal wall?

    <p>Inguinal canal's length</p> Signup and view all the answers

    Which structure is associated with the region of the ducts beyond the seminal vesicles?

    <p>Ejaculatory duct</p> Signup and view all the answers

    Which structure provides a thick muscular coat surrounding the uterus?

    <p>Myometrium</p> Signup and view all the answers

    Which structure does NOT play a role in the descent of the testes?

    <p>Superficial inguinal ring</p> Signup and view all the answers

    What happens to the mesonephros during the descent of the testes?

    <p>It degenerates and loses attachment</p> Signup and view all the answers

    Where is the inguinal canal located in relation to the inguinal ligament?

    <p>Superiorly to the medial half of the ligament</p> Signup and view all the answers

    Study Notes

    Renal Development and Disorders

    • GDNF from metanephric mesoderm drives ureteric bud branching and growth.
    • Mutations affecting GDNF signaling can lead to renal agenesis.
    • Disorders linked to GDNF mutations include:
      • SALL1: Townes-Brocks syndrome.
      • PAX2: Renal coloboma syndrome.
      • EYA1: Branchiootorenal syndrome.
    • Bilateral renal agenesis occurs in approximately 1 in 10,000 births, often leading to renal failure.
    • Potter sequence manifests as:
      • Anuria (absence of urine).
      • Oligohydramnios (reduced amniotic fluid).
      • Hypoplastic lungs (underdeveloped lungs due to low amniotic fluid).

    Kidney Cancer and Genetic Syndromes

    • Kidney cancers in children typically emerge by age 5, may also appear earlier due to genetic mutations or microdeletions.
    • Wilms tumor and associated conditions:
      • WAGR syndrome: Includes Wilms tumor, aniridia, gonadoblastomas, and cognitive impairments.
      • Denys-Drash syndrome: Involves ambiguous genitalia and Wilms tumor.
    • Autosomal dominant polycystic kidney disease (ADPKD):
      • Cyst development across nephron segments, often asymptomatic until adulthood.
      • Incidence: roughly 1 in 500 births.

    Ciliopathies and Renal Malformations

    • Renal dysplasias and agenesis are severe malformations requiring dialysis or transplantation early in life.
    • Multicystic dysplastic kidney results from a failure of nephron development; collecting ducts do not form due to undifferentiated surrounding cells.

    Urogenital Structure Development

    • The mesonephric ducts evolve into male reproductive structures, while paramesonephric ducts develop into female reproductive organs.
    • Testis descent process involves:
      • Development in abdominal cavity, descending through inguinal canal.
      • Connection to abdominal wall via urogenital mesentery.
      • Gubernaculum aids descent into scrotum, usually completed by birth.
    • In males, Anti-Müllerian hormone (AMH) causes degeneration of the paramesonephric ducts.

    Congenital Anomalies and Androgen Exposure

    • Open processus vaginalis can lead to congenital indirect inguinal hernia; intestinal loops may descend into the scrotum.
    • Ambiguous genitalia is often due to congenital adrenal hyperplasia (CAH), a condition resulting from excessive androgen exposure.
    • CAH accounts for about 60% of all disorders of sexual development (DSDs), with affected individuals genetically female (46,XX) but displaying masculinization.

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    Related Documents

    Embryonic Development of the Urogenital System PDF

    Description

    Explore the role of GDNF produced by the metanephric mesoderm in ureteric bud branching and growth. Understand how mutations in genes regulating GDNF expression can impact this developmental process. This quiz delves into the intricacies of renal development and genetic regulation.

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