Answer:
Female pseudohermaphroditism due to congenital adrenal hyperplasia(CAH)
Findings:
Bilateral adrenal hyperplasia with cerebriform appearance seen with preservation of corticomedullary differentiation. Bilateral testis not visualized. Uterus and bilateral ovaries were well seen. The ostium of vagina opens into the proximal urethra through a common channel ( urogenital sinus). There is a prostate like structure seen surrounding the proximal urethra ( seminal vesicles not present). However, the external genitalia has penile morphology. Labial fusion gives rise to scrotal structure.
Discussion:
The causes of female pseudohermaphroditism include CAH and transplacental androgen exposure.CAH is the most common cause of ambiguous genitalia. Most cases are secondary to 21-hydroxylase deficiency. Adrenal glands with a limb over 20 mm long and 4 mm wide and with normal corticomedullary differentiation are suggestive of CAH. MR images in these patients shows masculinized external genitalia with normal ovaries, fallopian tubes and a normal uterus. The extent to which masculinization of the external genitalia occurs in the female pseudohermaphrodite with congenital adrenal hyperplasia is variable. The usual patient with this condition shows some clitoral enlargement with chordee, a urethra and vagina opening into a urogenital sinus which has its external aperture at the base of the clitoris, and some degree of corrugation and fusion of the labia majora simulating a scrotum. Several cases with the urethra coursing partially or entirely through the phallus have been reported. The most extreme degree of masculinization is represented by the development of the phallus into a penile structure with the urethra pursuing a normal course and opening at the tip of the glans and with fusion of the labia to resemble a scrotal structure. Patients with this configuration of the external genitalia resemble cryptorchid males with macrogenitosomia praecox due to congenital adrenal hyperplasia.
References:
1. Imaging of Ambiguous Genitalia: Classification and Diagnostic Approach- Radiographics November-December 2008
2. Female Pseudohermaphroditism with Penile Urethra Report of an Unusual Case of Congenital Adrenal Hyperplasia, Archives of pediatric and adolescent medicine.
Female pseudohermaphroditism due to congenital adrenal hyperplasia(CAH)
Findings:
Bilateral adrenal hyperplasia with cerebriform appearance seen with preservation of corticomedullary differentiation. Bilateral testis not visualized. Uterus and bilateral ovaries were well seen. The ostium of vagina opens into the proximal urethra through a common channel ( urogenital sinus). There is a prostate like structure seen surrounding the proximal urethra ( seminal vesicles not present). However, the external genitalia has penile morphology. Labial fusion gives rise to scrotal structure.
Discussion:
The causes of female pseudohermaphroditism include CAH and transplacental androgen exposure.CAH is the most common cause of ambiguous genitalia. Most cases are secondary to 21-hydroxylase deficiency. Adrenal glands with a limb over 20 mm long and 4 mm wide and with normal corticomedullary differentiation are suggestive of CAH. MR images in these patients shows masculinized external genitalia with normal ovaries, fallopian tubes and a normal uterus. The extent to which masculinization of the external genitalia occurs in the female pseudohermaphrodite with congenital adrenal hyperplasia is variable. The usual patient with this condition shows some clitoral enlargement with chordee, a urethra and vagina opening into a urogenital sinus which has its external aperture at the base of the clitoris, and some degree of corrugation and fusion of the labia majora simulating a scrotum. Several cases with the urethra coursing partially or entirely through the phallus have been reported. The most extreme degree of masculinization is represented by the development of the phallus into a penile structure with the urethra pursuing a normal course and opening at the tip of the glans and with fusion of the labia to resemble a scrotal structure. Patients with this configuration of the external genitalia resemble cryptorchid males with macrogenitosomia praecox due to congenital adrenal hyperplasia.
References:
1. Imaging of Ambiguous Genitalia: Classification and Diagnostic Approach- Radiographics November-December 2008
2. Female Pseudohermaphroditism with Penile Urethra Report of an Unusual Case of Congenital Adrenal Hyperplasia, Archives of pediatric and adolescent medicine.