weekly_question 16/5/2021

[Admin]

A three-month female presents to your office with bilateral inguinal hernias. While examining the child, you notice a mass in the right labia. Findings suggestive of androgen insensitivity syndrome include:

A bicornuate uterus

B ovary in the hernia sac

C empty hernia sac

D lack of a fallopian tube

E normal vagina

[Admin]

D

correct

Complete androgen insensitivity syndrome (CAIS) was formerly known as testicular feminization. There are three types of AIS, of which the complete type presents as a phenotypically normal female with some form of male gonad. A male gonad in a labial hernia is the most common presentation of this syndrome. It is found in 1% of infant females with bilateral inguinal hernias. The second most common presentation is in a teenager with failure to undergo menarche.

At the time of inguinal hernia repair in infants, some advocate examination of the fallopian tube and ovary to rule out CAIS. This can often be demonstrated during the hernia repair by pulling the sac up until a normal fallopian tube is seen. If this is unsuccessful, one should consider a rectal exam to attempt to palpate the uterus, or an examination of the vagina. This can be done with a Hegar dilator, with concern if the vaginal length is less then 3 cm. This is not a consistent finding, and so in the setting of clinical concern additional testing should be done. Options include vaginoscopy to confirm the presence of a cervix, laparoscopic exploration, and biopsy of the gonad. Additionally, an ultrasound and a karyotype can add in making the diagnosis.

Once the diagnosis is made, there is some debate about timing of gonadectomy. Increasingly, there is support to leave the gonads until after puberty for CAIS.

[Ahmed Rabie]

D

[Admin]

D

correct

Complete androgen insensitivity syndrome (CAIS) was formerly known as testicular feminization. There are three types of AIS, of which the complete type presents as a phenotypically normal female with some form of male gonad. A male gonad in a labial hernia is the most common presentation of this syndrome. It is found in 1% of infant females with bilateral inguinal hernias. The second most common presentation is in a teenager with failure to undergo menarche.

At the time of inguinal hernia repair in infants, some advocate examination of the fallopian tube and ovary to rule out CAIS. This can often be demonstrated during the hernia repair by pulling the sac up until a normal fallopian tube is seen. If this is unsuccessful, one should consider a rectal exam to attempt to palpate the uterus, or an examination of the vagina. This can be done with a Hegar dilator, with concern if the vaginal length is less then 3 cm. This is not a consistent finding, and so in the setting of clinical concern additional testing should be done. Options include vaginoscopy to confirm the presence of a cervix, laparoscopic exploration, and biopsy of the gonad. Additionally, an ultrasound and a karyotype can add in making the diagnosis.

Once the diagnosis is made, there is some debate about timing of gonadectomy. Increasingly, there is support to leave the gonads until after puberty for CAIS.