Presentation
Known case of ambiguous genitalia and had childhood history of diversion colostomy for imperforate anus. Now presented with delayed secondary sexual characteristics.
Patient Data
Diastases of the pubic bones and partial agenesis of the sacrum.
Urinary bladder exstrophy. Large calculus formation within the herniated part of urinary bladder, secondary to chronic stasis.
Absence of penile shaft and the scrotal sac with improper differentiation of pelvic organs.
Single left-sided testis within the left inguinal canal. Right testicle parenchyma is not separately visualized.
Rectum and anal canal are absent. Left sided colostomy formation.
Additional finding of contracted gallbladder with multiple calculi within its lumen.
Case Discussion
Individuals with an abnormal chromosomal, gonadal, and phenotypic sex composition, which results in variations in the development of the urogenital tract and reproductive system, are referred to as having disorders of sex development (DSDs) 1.
It is a spectrum of at least 50 congenital anomalies and depending on the situation, several treatments are available, such as hormone replacement therapy, counseling, and surgery.
This is the case of a male-looking patient who has had underdeveloped genital organs since birth with an associated imperforate anus. For the imperforate anus, the patient underwent diversion colostomy soon after birth and for underdeveloped genital organs, the patient's parents were counseled by the pediatrician about the gender assignment.
The patient presented to the urologist for any potential treatment for ambiguous genitalia. Considering The patient's serum testosterone level was 198 ng/dL and the CT findings confirm sexual development disorder with undescended left-sided testes and other anatomical abnormalities. The patient was referred to a psychologist for supportive management.
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