Pediatric Oncall- Abnormal Genitalia in Newborns

Dr. Vivek M. Rege
Pediatric Surgeon & Pediatric Urologist
B J Wadia Hospital For Children, Hurkisondas Hospital, Wockhardt Hospital, Mumbai

This is a condition that gives a lot of tension and confusion to the parents and this starts soon after birth of the child. The cause is the external genitals of the child are in between a male and female. This condition is called Intersex.

A newborn has external genitals which are a mixture of male and female, and the parents are most interested in knowing whether their child is a boy or a girl. In these cases due to ambiguity of the external genitals, even the doctor is at a loss to pronounce the sex of the child. In some children the problem is more complex, at birth the child looks typically like a male or a female, but after a few years other anomalies crop up when it is realized that things are not as simple and the internal genitals are of the opposite sex.

This is a very complicated subject and without going into too many details, suffice it to say that numerous investigations are necessary. The investigations vary from combinations of blood tests, radiological tests, and operative procedures with microscopic examination to come to a final diagnosis. The art and science of this subject is firstly to determine the actual sex of the child and then reconstruct the external genitals to match the sex. This may not always be possible and the confusion recurs. Hence, to make it simple, the decision has to be made on what this child should be brought up as - a male or a female? This will depend on a number of factors some of which I shall try to explain in the next few lines.

The first important aspect of this condition is knowing what is the chromosomal sex of the child. Normal females have a XX sex Chromosome, and normal males have a XY sex Chromosome. There are a few such children who have abnormal sex chromosome like a XO or a XXY and others. This complicates matter and hence this test by itself cannot be fully relied on.

Another factor is the type and quality of external genitals the child is born with. A normal boy must have a penis, scrotum, testes within the scrotum. In a girl, there is a clitoris, a urethral opening and a vaginal opening surrounded by two pairs of labia or lips on each side. No gonad is felt on the outside. In children with intersex there may be a penis like structure but the urethral opening may be like a girl, there may be structures that are midway between a scrotum and labia, male looking child with the testes not seen or felt in the scrotal or labial folds. In short, a quick look gives the impression of a boy but detailed examination belies the truth, and in others it may be vice versa.

A third factor is the internal genitals of the child. In a boy, there will be prostate gland surrounding the initial part of the urethra after the bladder; seminal vesicles behind the prostate and the vas deferens on each side opening into the urethra ( tubes bringing the sperms from the testis to the urethra). In contrast, a female will have a uterus just behind the bladder, with a Fallopian tube on each side of the uterus and an ovary at the end of the tube. In children with intersex, externally though appears like boy, this child may have a uterus inside or the other way around - looking like a girl externally, but will have no uterus or ovaries inside.

There are other factors to be considered before deciding on a course of therapy - like age at which the child is brought to the doctor first, and also the psychology of the family and the individual. A final decision is taken after a thorough discussion between the doctor and the parents of the child as to what should be the sex of rearing. In an older child the wishes of the parents and the child are to be taken into consideration.

In order to know the inside information, investigations need to be done, like :
Biochemical - blood levels of various hormones in the body of the child, response to administration on the blood levels of the hormones.
Radiological - Sonography of the abdomen to look for internal genitals like the uterus, ovaries, tubes etc.

Sinogram putting contrast through the urinary meatus inside to look for the presence of a common channel with uterus and the urethra being joined and other anomalies of the vagina.

Laparoscopy - to visualize what is inside in terms of the genitalia like the uterus, Fallopian tubes, ovaries , or abdominal undescended testes etc. In patients with a doubtful gonad, a biopsy or a piece of the gonad is taken and sent for a microscopic examination to look for features of a testis or an ovary.

Therapy consists of 3 components :

External genitals - these must be constructed to look like those of the decided sex of rearing - in a boy a good penis and 2 testis within a srotum; and in girl, a vaginal orifice, a urethral orifice and labia on each side.

Internal genital therapy - internal genitalia that are of the opposite sex than that of rearing must be removed permanently. In case of a boy, the uterus, tubes and ovaries (if present) must be removed; in case of a girl, the abdominal testes, the vas and the seminal vesicles must be removed.

Hormonal supplementation must be continued for a long time depending on the sex of rearing. These are given as injections to keep ideal levels of the hormone corresponding to the sex of rearing.