MANAGEMENT AND REPORT OF A CASE OF INTERSEX. By N. JOHN WILDE, D.D.S., M.D., JUAN J. TUR, M.D. and FRED W. BIEKER, M.D.

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1 MANAGEMENT AND REPORT OF A CASE OF INTERSEX By N. JOHN WILDE, D.D.S., M.D., JUAN J. TUR, M.D. and FRED W. BIEKER, M.D. Fresno, California, U.S.A. DURING man's embryological development, the analogues of both male and female are present. In most instances one sex predominates in continuing development and the other components disappear or become a vestigial structure. Occasionally, recession does not occur and hermaphrodites or pseudohermaphrodites may be the result. A true hermaphrodite has both male and female gonads with ambisexual development of the sex organs. (A pseudohermaphrodite has either male or female gonads but external genitalia with varying degrees of male or female differentiation.) The incidence of true hermaphrodism is rare and will not be considered in this paper. Pseudohermaphrodism is more common and for simplicity will be divided into two main categories : (I) the adrenogenital syndrome ; (2) the intersexes. In the first group, a recessive genetic defect in the enzymes required for production of cortisol by the adrenal results in excess production of ACTH (Wilkens et al., I95O ; Moore et al., 1962). This stimulates the adrenal to produce steroids with resultant excess gonadotropins. In the female this causes masculine phallic exaggeration of the clitoris and in the male development of premature male secondary sexual characteristics. This disease occurs primarily in the female and may be associated with incomplete breakthrough of the vaginal opening and fusion of the labia. The diagnosis is relatively simple for the urinary I7-ketosteroids are markedly elevated (2 to 5 reg./day, whereas a normal 24-hour urine sample has 0" 5 reg./day). Treatment is medical consisting of small doses of cortisone which blocks the excess production of ACTH. In some instances, a partial clitorectomy may be necessary. In others, correction of labial fusion and an incomplete vaginal opening will have to be done. Under this programme, these children develop into normal fertile females (Gross and Meeker, 1955; Wilkens et al., 1955). This group does not represent any great problem and physically and psychologically take their place in society without difficulty. They must, however, be differentiated from the second group as early in life as possible for the adrenogenital syndrome may be associated with a deficiency of mineral corticoids and concomitant electrolyte disturbances. Obviously, any operative intervention, such as exploratory laparotomy, may be met with disaster secondary to adrenal failure. In the second category the intersexes are grouped into male and female pseudohermaphrodites without adrenal abnormalities. These individuals may present a profound problem in diagnosis and management. Diagnosis depends upon careful examination of the external genitalia, determination of the 24-hour output of urinary I7-ketosteroids, sexual chromatin pattern, urological evaluation, and frequently exploratory laparotomy (Moore and Barr, 1955; Kiefer et al., 1959). The diagnosis and management of such a problem is outlined in the following case : This infant was first seen in August 1956 at 2 weeks of age. There was a phalliclike appendage larger than a clitoris but which, under no circumstances, could be passed off as a penis (Fig. I). There was no prepuce and the skin present more nearly represented a clitoral hood. There did not appear to be a corpus cavernosum and the head of this appendage merged into the body without the presence of a coronal sulcus. 341

2 342 BRITISH JOURNAL OF PLASTIC SURGERY There was a marked chordee. The urethra opened in the perineum near the ventral aspect of the phallus. There was no vaginal opening and there appeared to be a A Fig. a.--retrograde pyelograms performed following the intravenous pyelograms. These indicate a normal urinary tract excluding other anomalies that may occur. FIG. 2 rudimentary cleft scrotum. In both inguinal areas, small masses could be palpated which were thought to be testes. Urinary I7-ketosteroids were determined and found to be within normal limits. Intravenous pyelograms and cystograms were also normal (Fig. 2). Buccal smear cytology revealed a male chromosomal pattern (Figs. 3 and 4).

3 MANAGEMENT AND REPORT OF CASE OF INTERSEX 343 Biopsy of the inguinal masses was interpreted as immature but normal testicular tissue. Exploratory laparotomy was performed and was completely negative. No internal female organs of any kind were present. We thus had an infant with male chromosomal pattern and gonads, but with indeterminate external genitalia. It was obvious that the tissue present could never be constructed into a functioning penis. Review of the literature revealed a number of cases similar to ours in which management was followed over a period of years (Gross and Meeker, I955 ; Wilkens i II FIG. 3 Male chromosomal pattern obtained by blood culture technique. X X ( >: 2,oao.) et al., I955 ; Jones and Wilkens, z96i ; Parsons, I964). It was concluded that infants of male gender with external genitalia similar to our patient, who were managed as males, had not made satisfactory psychic or social adjustments. However, those managed as females had made a relatively good adjustment, including marriage, in spite of the fact that they were of male gender. The most important factor in making a decision is that the rudimentary tissue of the external genitalia must dictate whether the child will be reared as a male or female, for it is from this that the permanent adult genitalia must be constructed. This takes precedence over the " true sex " as indicated by the chromosomal pattern and gonads. In our case, it was obvious that the tissue present could never be constructed into a penis and scrotum which would look even relatively normal, let alone function. Partial amputation of the phallic appendage and later construction of a vaginal-like cavity was quite feasible, however. Once a decision is reached, the management should begin immediately so that all the subtle psychological influences on the baby, such as referring to it as he, etc., can be avoided (Melicon and Uson, z964).

4 344 BRITISH JOURNAL OF PLASTIC SURGERY The above laboratory and surgical work-up had been carried out as soon as possible. The parents were now informed of our findings and concurred with the proposed plan. At several weeks of age, they changed the infant's name to the feminine gender. From that time on, at all times, even in their talks between themselves and in the privacy of their own home, they have always referred to their child as she, her, etc. Fie. 4 Female chromosomal pattern obtained by blood culture technique. ( 2,0000 We, of course, have done the same in all of our conversations with the parents and with the child. When she was I year of age, the testes were removed (Fig. 5) and a partial amputation of the phallus was performed to give the appearance of a clitoris. At the same time, the tissue which had resembled a cleft scrotum was revised and arranged in such a manner as to form as normal a clitoral hood and labia as possible. Following this surgery the child was followed at monthly intervals for a short time and then at yearly intervals until three years ago. During this time the mother expressed a great deal of satisfaction in the manner in which this child was growing and developing. She stated that following the surgery and the child's recovery, she no longer had to change diapers and bathe and dress the little girl in seclusion. On the other hand, when friends, neighbours, relatives and other children saw this little girl, there was nothing abnormal to be noted to their casual glance. At the time of our last examination three years ago, it was only after one had put the child in a lithotomy position and attempted to spread the labia to find the vaginal opening that one was aware that a deformity was present (Fig. 6). At that last appointment, the mother stated that the child was accepted as a girl by everyone and had the appearance of any 4-year-old girl who was seen in the neighbourhood.

5 MANAGEMENT AND REPORT OF CASE OF INTERSEX 345 At the present time, this child is 7½ years of age and is still accepted as a normal female by all of her acquaintances. We have talked with the mother but have not been able to prevail upon her to bring the child to our office for another examination and for further follow-up photographs. She has been advised by her pa~diatrician that everything possible should be done to keep from calling this child's attention to her condition, and then, when she is old enough to understand, the mother should one day sit down with the child and explain the entire matter to her. Whether this is the proper FIG. 5 FIG. 6 Fig. 5.--Microscopic appearance of testicular tissue revealing normal immature tubular structure. Fig. 6.--Post-operative appearance following removal of the phallus and revision of the scrotal tissue. procedure or not, from a psychiatric point of view, is debatable. We feel it is wrong. We have urged the family to seek psychiatric consultation. We have tried to explain to them that a" certain day " does not arrive when she will be able to do this. We have told her that long before she attempts her explanation, the girl will have realised she has a deformity, and such an explanation " out of the blue " as it were, will serve no purpose. Rather, it may put the parents in the position of not having been completely honest with the child in earlier years. It is our opinion that the proper approach would be to submit the child to such examinations as are deemed necessary to follow and evaluate her development. We do not feel that this would unnecessarily emphasise the child's defect. Rather, she would grow up with the gradual realisation of her condition, knowing that the parents, doctors, and others responsible for her care were interested, concerned, and would do everything possible to help her. As it is, she is going to realise gradually the presence of her defect anyway, and the parents' every attempt to ignore it and " cover it up " will actually serve to emphasise and distort its importance. This, we feel, will be to the detriment of the child.

6 346 BRITISH JOURNAL OF PLASTIC SURGERY At puberty this girl will be started on oestrogen therapy. Later, a vagina can be constructed if the parents are favourably disposed. As mentioned above, some individuals handled in this manner have such a satisfactory psychic adjustment that they have married. They cannot bear children, of course, but otherwise their sexual relationship with their mate has been acceptable. We would like to stress the need of as early a differential diagnosis as possible between the adrenogenic syndrome and the true intersex. We also stress the need for early assignment of sex as a most basic factor to prepare the child for a role in society for which he or she is compatible. This, in turn, is based on a thorough evaluation, including the chromosomal pattern, urological evaluation, exploratory laparotomy, and, most importantly, the anatomy of the external genitalia. It is the latter that actually takes precedence over the true sex. REFERENCES GRoss, R. E., and MEEKER, T. A. (I955). Pediatrics, x6, 3o3. JONES, H. W., and WILKENS, L. (I961). Amer. J. Obstet. Gynec., 82, KIEFER, J., BRONSTEIN, I. P., ROSENTHAL, I. M., and HYDE, I. S. (1959). Med." CHn. N. Amer., 43, I685. MELICOW, M. M., and USON, A. C. (I964). J. UroL, 9 I, 4o2. MOORE, J., FRANKLIN, R. R., WILLS, S. H., and CLAYTON, G. W. (1962). Amer. J. Obstet. Gynec., 83, ~I75. MOORE, K. L., and BARR, M. L. (1955). Lancet, 2, 57. PARSONS, L. (1964). Pedlar. Clin. N. Amer., Ix, 45. WILKENS, L., GRUMBACH, M. M., VAN WYHo J. J., SHEPPARD o T. H., and PAPADATOS, C. (I955). Pediatrics, x6, 287. WILKENS, L., LEWIS, R. A., KLEIN, R., and ROSENBERG, E. (195o). Bull. Johns Hopk. Hosp., 86, 249. Submitted for publication, July i965.