THE MANAGEMENT OF AGENESIS OF THE PHALLUS

(1)

(Received January 9; revision accepted for publication June 10, 1970.)

Presented at the Thirty-sixth Annual Meeting of the American Academy of Pediatrics, October 22, 1967, Washington, D.C.

ADDRESS FOR REPRINTS: (H.H.Y., II ) Department of Urology, Massachusetts General Hospital, Fruit

Street, Boston, Massachusetts 02114.

PEDIATRICS, Vol. 47, No. 1, Part I, January 1971

81 THE

MANAGEMENT

OF

AGENESIS

OF THE

PHALLUS

Hugh H. Young, II, M.D., A.T.K. Cockett, M.D., Robert Stoller, M.D.,

Franklin L. Ashley, M.D., and Willard E. Goodwin, M.D.

From the U.C.L.A. School of Medicine, Los Angeles, and Harbor General Hospital, Torrance, California

ABSTRACT. Personal experience with four cases

of complete agenesis of the phallus are recorded.

The principal question is whether to raise the

new-born infant as a boy or a girl. The answer was

de-duced from the major psychological and social

problems encountered in raising two of these

pa-tients as boys. In one of these cases multiple,

pre-violls attempts at plastic construction of a phallus

had been coniplete cosmetic failures, and the

pa-tient suffered from extreme psychological trauma.

A cosmetic and psychological improvement was

obtained by covering the existing pedicle flap with

scrotal skill.

Both the psychological and surgical consider-ations have led us to raise two newborn infants with agenesis of the phallus as girls. The testicles were placed in the inguinal region so that the

en-docrine relationships of childhood were not

dis-turbed. The scrotum was preserved for later use in

construction of a vagina. From an unusual case of

transexualism, we found that it is possible to obtain

a completely normal female appearance by giving

estrogens to a normal male at puberty.

Feminiza-tion will be achieved in a similar manner in these

patients with agenesis of the phallus. Following

construction of a vagina, these children will be

completely normal, female sexual partners, except that they will not be able to reproduce. Further-more, these children will go through childhood and adolescence with a more acceptable appearance as

a girl than they could as a boy.

We place great emphasis on a rapid decision on sex assignment within a day or so after the child’s

birth. After that the legal problems of sex change and the social problems of ambiguity among

rela-tives and friends are compounded. Pediatrics, 47:

81, 1971, PHALLUS, ACENESIS, INTERSEx,

PHALLO-PLASTY.

C

OMPLETE agenesis of the phallus is an

extremely rare condition. The

esti-mated incidence is one in 50,000 births.1

Review of the world’s literature in 1960 by

Richant and Beninschke2 revealed only 27

instances. W. W. Scott noted reports of

three other instances and presented two of

his own.3 There have been many instances

of other closely related malformations,

some of which should be classified as

“con-cealed penis” in which the corpora

caven-nosa are small and not obvious on

inspec-tion. In our patients, as far as we can

determine, no significant corpora were

pres-ent. In recent years, four patients with

agen-esis of the phallus have been seen at our

institutions. Two were olden children, and

two were newborn infants.

There are two obvious possibilities in the

management of such a patient; he can be

reared as a male or as a female. The choice

depends on two considerations, the

psycho-logical factors and the surgical factors. Both

of these have many fine points, and each

case presents special problems.

Case I

CASE REPORTS

Stoller has described the first one of this group

of patients with agenesis of the phallus.’ His

pa-tient was born with bilateral testes and a bifid

scrotum which resembled labia majora and labia minora, and he had a perineal urethra. There was no penis and no evidence of any structure devel-oped from the genital tubercle. He was reared as a boy from the start. He had severe right hydrone-phrosis with urinary infection in the first 3 months of life, and a nephrectomy was performed at the age of 10 months. In spite of the obstacles that ex-tensive surgery poses to normal development, and probably because he had an intelligent mother and

(2)

A

Fic. 2. Case II. The pedicle has been denuded and

buried beneath scrotal skin.

82

AGENESIS OF PHALLUS

Fic. 1. Case II. Agenesis of phallus with pedicle of

abdominal skin serving as prosthetic phallus, with

poor cosmetic result.

developed into a relatively well adjusted little boy.

It was obvious from extensive psychological analy-sis that, in every way, the boy was and wanted

to

be a male. This was even exaggerated by his knowledge later on that he was deficient of the

normal male equipment. He already knew he was a

boy by that time.

Because of his urologic problems, he had to wear a catheter for some time. He was quite proud of his catheter and would show it off to strangers at times. Despite his imperfect appearance and other handicaps, he has adjusted as well as one could expect.

Case II

A boy born in 1948 with agenesis of the phallus

first

came

under

our care

in 1962. Several plastic

operations were done elsewhere in the first few

years of life to construct a skin pedicle for a

phal-lus (Fig. 1). An attempt at formation of a urethra was made, but this scarred and subsequently had to be removed. His artificial pedicled skin tube “phallus” was described by a urologist, before it was revised, as a “monstrosity of unearthly appear-ance.”4

At age 15, he came under psychiatric care and related a fantasy life which, in times of stress, spilled over into real life in a paranoid manner. “I

am the grandson of God, and maybe I am the Mes-siah,” he said. Further analysis of the psychiatric

features of this case have been reported by Stoller.4 At age 7 he played with neighborhood boys in

homosexual games, one of which was called “the pull,” a test of pain endurance. There was mutual

masturbation and intercourse. Play was devised to prove that his penis was as good as the others’.

Thus, there were complex games that he developed

involving knives as phallic symbols to augment his

gender identity.

In this instance, the appearance was markedly improved by burying the denuded pedicle in the scrotum

(

Fig. 2

)

, and then at a second stage

resur-recting it, covered with scrotal skin

(

Fig. 3).” With this cosmetic improvement, the boy has im-proved psychologically. The urethra still opens in the perineum, just in front of the anus and behind the rudimentary perineal skin tag, as is usual in

these cases. No

attempt

will be made to create an

urethra in the new phallus. This case demonstrates some of the difficulties associated with trying

to

create a phallus. The multiple, unsatisfactory sur-gery made him an emotional cripple.

Case Ill

An infant was born on December 12, 1966, at Harbor General Hospital to a 34-year-old Latin American woman who had had two previous nor-mal childbirths. She denies knowledge of any com-plications, illness, or ingestion of any medicines other than vitamins during pregnancy.

(3)

Fic. 5. Case III. Urethral meatus hidden between

perineal skin tag and anus.

Fic. 6. Case III. Aortogram via umbilical artery shows only a solitary enlarged right kidney with

multiple renal arteries.

(54 AGENESIS OF PHALLUS

a vagina can l)e constructed later. Although

they will not be able to reproduce, these

patients will be able to engage in sexual

in-tereourse as a normal, female partner. It is

unlikely that, were they reared as males,

they could reproduce or perform sexual

functions normally.

A surgical consideration not encountered

in

sex-change operations is the problem of

mamtaining a normally functioning urinary

tract with the construction of the vagina. If

one places the new vagina between the

rec-tum and the urethra, then it is important to

determine that the sphincters are separate,

as we believe they are in our patients.

There is evidence that similar cases of

agenesis of the phallus may have adequate

urinary function after the urethra is

I)rougllt forward from the anal verge to the

normal position anterior to the vagina.

The scrotum should be preserved

be-cause it is useful later for the construction

of a vagina and vulva. At most one should

tack down the scrotum deep in the midline

with a suture or two so that there will be a

midline cleft. Without testicles the scrotum

does shrink and will assume an acceptable

appearance.

If it were found better to raise the child

as a male from the outset, we would now

plan construction of a penis after puberty

utilizing scrotal skin to cover a pedicle flap

as we did in Case II. The Silastic prosthesis

designed and used so successfully by

Pear-man8 would be implanted to provide

po-tency. Lastly, the urethra could be brought to the tip of the penis.

DISCUSSION

In the latter two cases that we managed

from the beginning, it was decided that

they should be brought up as girls. They

can appear essentially normal while

grow-ing up as girls. This would not be true if

they were reared as boys, and the first two

cases demonstrated the importance of this

point. Adjustment was difficult, at best, for

Cases I and II, and could be satisfactory

only in Case I where the family support

(4)

_)

3. Case II. Cosmetic improvement with pedicle covered by scrotal skin.

SURGICAL

MANAGEMENT

Very little surgery is required at first.

From experience with sex change

opera-tions and other special cases, we know that

Fic.

ARTICLES 83

tag. However, the child did void three times in the

first 24 hours. Closer inspection revealed the

ureth-ral orifice just anterior to the anus and behind the

skin tag

(

Fig. 5

)

. No anomalies of the anus, lower

extremities, or other areas were noted. Biiccal smear and karyotype were both male. The intrave-nous urogram revealed only one large right kidney

with no evidence of obstruction. A renal scan and

an aortogram performed via the umbilical artery

demonstrated only the solitary kidney with

multi-ple renal arteries

(

Fig. 6). Blood urea nitrogen

was 10 mg/100 ml.

It has been decided that the patient should be

raised as a girl. Dealing with the infant’s parents

was a delicate matter. They could not understand

English, and the mother was at times hysterical.

Their priest had to be consulted to find out if a change of sex was acceptable. His answer was that whatever the parents wanted was satisfactory.

A lower abdominal exploration was performed.

Testicular biopsies revealed normal, infant, male

gonads. In order to allow the scrotum to shrink,

the testicles were tacked up in the region of the inguinal canals. The scrotum did decrease in size to a shriveled little structure that looked almost fe-male in several months.

Case IV

A fourth patient was transferred to Harbor Gen-eral Hospital on the second day following birth

be-cause of multiple congenital anomalies

(

Fig. 7).

He was born prematurely and weighed only 3 lb,

731 oz. There was agenesis of the penis, bilateral clubbed feet, and the type III imperforate anus. An intravenous urogram visualized the pelviocaly-ceal systems poorly on each side, but the BUN was normal. A cvstogram was essentially normal.

The urethra was located in approximately the

same position as in Case III (Fig. 8). The orifice appeared to be separate and anterior to the anal

sphincter. There was a penineal skin tag, as in Case III, between the urethra and the scrotum. In this

infant, as in the others, one could not palpate

cor-pora cavernosa and there was no evidence of any

tissue developed from the genital tubercle. The go-nads were in the scrotum. The testes and epidi-dymis felt normal.

A difficult problem arose if the infant were to be reared as a girl because the parents had been in-formed that it was a boy. They had selected the

father’s name for the infant and found it very hard

to change. In conference it was decided to raise

this child as a girl. Had the conference been held

before the parents were informed of the child’s sex, there would have been less confusion.

On the infant’s third day of life an exploration

and colostomy were performed. Later the testes

(5)

Fic. 7. Case IV. Multiple congenital anomalies, with agenesis of phallus.

bilateral clubbed feet, and type III imperforate antis.

-11”

I

.-..

_

Ftc. 8. Case IV. Urethral meatus in typical location posterior to perineal skin tag as in case III.

Iniperforat’ aniic.

ARTICLES 85

\Vc kiio fi’oiii an unusual case that the

nornial feniale body contour can be

devel-oped in a genetic male by giving estrogens

starting around the age of puberty. This

case was described in an article entitled

“Pubertal Feminization in a Genetic Male.”9

A 19-year-old male patient was first seen

with a full female body and normal,

full-sized adult male genitalia. The body

con-tour had been female, with well developed

breasts since PIllerty

(

Fig. 9

)

,

and it was

thought, erroneously, that she had a very

rare hornioiml disease. The patient desired

and had a sex change operation at age 20

and has continued to function well as a

fe-male for 6 years. Only recently she

dis-closed that she had been a biologically

nor-mal male had been taking estrogens

since the age of 13, when she began filching

a stip1 from her niother. She had fooled

her doctors into believing that she was the

victim of an endocninologic disorder.

The results of estrogen therapy in this

case are consistent with our measurements

of plasma testosterone in men treated with

estrogens for adenocarcinoma of the

pros-tate. Testosterone levels are reduced to

be-low the average normal female levels in all

instances by giving 5 mg of diethylstil-bes-trol

(

Stilbesterol

)

daily without doing

orchi-(‘ctomv.’

\Ve feel that it is not necessary to

per-form orchiectomy early in life in patients

with agenesis of the phallus. To do so may

disturb the endocrine relationships of

child-hood. Ravitch found it practical in one

in-stance to perform orchiectomy.1’ He feels

that the child could then be considered a

little girl with less deceit. Certainly, if the

patient cannot be followed closely, early

or-chiectomy would be advisable to avoid the

possibility of pubertal virilization. The

pa-tient will need to have a vagina

con-structed, and the orchiectomy can be done

(6)

______

- ---_____________

‘ 9. A 19-year-old male with feminization from oral estrogens.

86 AGENESIS OF PHALLUS

An early, final decision regarding the

child’s sex must be reached. If this can be

done before the parents are aware of the

problem and they are presented with a

united decision, whatever it is, there will be

greater acceptance. Our decisions

regard-ing Cases III and IV were made at

interde-partmental conferences attended by

urolo-gists, pediatricians, endocninologists,

ge-neticists, psychiatrists, and other interested

people. Genetic studies may be important

but should not delay the decision, because

these cases are fairly typical. There is little

chance of this condition being confused

with hypospadias or something else.

The importance of early sex assignment,

within a few days if possible, cannot be

overemphasized. First, this is important for

the parents’ sake; they need to be oriented

properly, and they need to be able to

an-swer the questions of the rest of the family

and friends. In addition, the birth records

and other documents can be corrected more

simply at this time, and the child can be

given a name to conform to the sex.

Per-haps more important, though not quite as

urgent, the assignment should be made

early to avoid confusion in the development

of the child’s core gender identity. Core

gender identity is the feeling, “deep down,”

by a person that he or she is a certain sex.

This may be totally apart from the feeling

that he is on is not masculine or feminine.’2

The basic sense of being male is present

and permanent from earliest life, and the

penis and other external genitalia are not

essential to this sense of maleness.

Children may begin acting as members of

their own sex when they first become aware

of themselves, and this may be manifest at

less than a year of age. The forces that

cre-ate gender identity are at work long before

this, and one must not change a child’s sex

without good reason after this process has

begun. The child’s confidence in his gender

identity will stem from his parents. Hence,

the importance of the early unified position.

With many physicians involved in making

this decision, the parents can get the

im-pression of mass confusion. We have

learned from experience now that one

phys-ician should be assigned to do all the

talk-ing to the parents regarding the child, and

they should be able to consult him in the

future. It is obvious that careful follow-up,

(7)

ARTICLES 87

treatment will be necessary later. Also, the

parents should have a psychiatrist to

con-sult as needed.

We feel that infants born with agenesis

of the phallus should be raised as females

because the problems seem to be fewer and

more easily manageable. Throughout early

life they may be made to appear more like

a girl. They are less subject to the close

scrutiny of their genitalia by their peers as

a girl, both in early childhood and later in

locker rooms and public rest rooms. They

can pass more easily for a normal girl than

any male with a surgically constructed

phallus can pass for a normal boy.

REFERENCES

1. Campbell, M. F. : Urology, Vol. II. Philadel-phia: W. B. Saunders Company, pp.

1714-1715, 1963.

2. Richart, R., and Benirschke, K.: Penile

agene-sis. Arch. Path., 70:252, 1960.

3. Scott, W. W. : Congenital absence of the penis. Urol. Dig., 7:21, 1968.

4. Stoller, R.

J.

: The sense of maleness. Psychoa-nal. Quart., 34:207, 1965.

5. Goodwin, W. E., and Thilen, N. M. : Plastic

reconstruction of penile skin : Implantation

of penis into scrotum. J.A.M.A., 144:384, 1950.

6. Goodwin, W. E., and Scott, W. W. : Phallo-plasty.

J.

Urol., 68:903, 1952.

7. Gillies, H., and Harrison, R.

J.

: Congenital ab-sence of penis, with embryological

consider-ations. Brit.

J.

Plast. Surg., 1:8, 1948.

8. Pearman, R. 0. : Treatment of organic

impo-tence by implantation of a penile prosthesis.

J.

Urol., 97:716, 1967.

9. Schwabe, A. D., Solomon, D. H., Stoller, R.

J.,

and Bumham,

J.

P. : Pubertal feminization in

a genetic

male

with testicular atrophy and

normal urinary gonadotropin.

J.

Clin.

En-doer., 22:839, 1962.

10. Young, H. H., II, and Kent,

J.

R. : Plasma

tes-tosterone levels in patients with prostatic carcinoma before and after treatment.

J.

Urol., 99:788, 1968.

11. Ravitch, M. M. : Personal communication.

(8)

1971;47;81

Pediatrics

Goodwin

Hugh H. Young II, A. T.K. Cockett, Robert Stoller, Franklin L. Ashley and Willard E.