Related Experiment Video
Updated: Apr 24, 2026
06:05
Assessing Urinary Tract Junction Obstruction Defects by Methylene Blue Dye Injection
Published on: October 12, 2017
15.3K
Bladder exstrophy-epispadias complex and triple-X syndrome: incidental finding or causality?
Paul Ramaekers1, Bart Loeys, Catharina von Lowtzow
1Department of Gynaecology & Obstetrics, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium; Department of Gynaecology & Obstetrics, Ghent University Hospital, Ghent, Belgium.
Birth Defects Research. Part A, Clinical and Molecular Teratology
|September 10, 2014
Summary
Bladder exstrophy and Triple-X syndrome (47,XXX) may be linked. This report details two cases, suggesting a potential causal relationship requiring further investigation.
Area of Science:
- Genetics
- Developmental Biology
- Medical Diagnostics
Background:
- Bladder exstrophy is a rare congenital malformation.
- Triple-X syndrome (47,XXX) is the most common sex chromosome aneuploidy in females, often asymptomatic.
- Prenatal diagnosis of Triple-X syndrome is typically incidental.
Observation:
- This study reports two cases associating bladder exstrophy with Triple-X syndrome.
- One case involved a fetus, and the other an adult patient.
- Previous literature includes two similar case reports.
Findings:
- The co-occurrence of bladder exstrophy and Triple-X syndrome suggests a potential link.
- The observed association warrants consideration of causality between these conditions.
Implications:
- Investigating a potential gene dosage effect may elucidate the underlying mechanism.
- This association could impact genetic counseling and diagnostic approaches for both conditions.
Related Concept Videos
01:43Sex-linked Disorders
93.4K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
93.4K
01:19Anatomy of the Genitourinary System II: Bladder and Urethra
3.5K
The lower urinary system consists of the urinary bladder and urethra, which are essential in storing and expelling urine from the body. Together with the internal and external sphincters, these structures work together to regulate urination effectively.Anatomy of the BladderThe urinary bladder is a muscular, stretchable organ behind the pubic bone and in front of the rectum. In females, the bladder is positioned anterior to the vagina and inferior to the uterus, while in males, it is located...
3.5K
01:23Urinary Bladder
4.6K
The urinary bladder is a hollow, muscular sac that temporarily stores urine before it is expelled from the body. It can hold approximately 600 mL of urine prior to micturition. The bladder is retroperitoneal and located behind the pubic symphysis in the pelvic floor.
In males, the bladder is situated in front of the rectum, while in females, it is positioned anterior to the vagina and uterus. The bladder floor contains an inverted triangular area called the trigone, defined by the two ureteric...
In males, the bladder is situated in front of the rectum, while in females, it is positioned anterior to the vagina and uterus. The bladder floor contains an inverted triangular area called the trigone, defined by the two ureteric...
4.6K
01:19X-linked Traits
45.4K
In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
45.4K
01:19X-linked Traits
6.3K
6.3K
01:20Disorders of the Urinary System
2.1K
The urinary system is responsible for eliminating waste and excess fluids from the body. However, disorders of the urinary system can arise due to various reasons like infections, stress, age, congenital abnormalities, and lifestyle.
Urinary tract infections (UTIs) are one of the most common urinary system disorders. They are caused by bacteria that enter the urethra and can spread to the bladder resulting in cystitis. Pyelonephritis is the result of a UTI that has ascended to the level of the...
Urinary tract infections (UTIs) are one of the most common urinary system disorders. They are caused by bacteria that enter the urethra and can spread to the bladder resulting in cystitis. Pyelonephritis is the result of a UTI that has ascended to the level of the...
2.1K