Penile Agenesis: A Report of Six Cases
By Irene L. Oesch, A. Pinter, and P.G. Ransley
London, England and Pecs, Hungary
9 Agenesis of the penis is an extremely rare anomaly,
occurring only once in 30 million births. This low incidence
is responsible for the limited experience with this anomaly.
There are only about 70 published cases, most reports
being of one or two patients. This complex malformation
requires urgent assessment at birth for several reasons:
Female sex assignment is required early. Gonadectomy
should be performed in the first few days of life to prevent
male gender sex marking from the testosterone surge
occurring between the tenth and the 60th day of life. Early
gonadectomy and genital reconstruction helps the family to
accept the child's altered gender and to reduce psychologi-
cal problems.
9 1987 by Grune & S t r a t t o n . Inc.
INDEX WORDS: Aphallia; genital reconstruction.
H E R E ARE T W O major groups of patients with
T penile agenesis, those with congenital anomalies
incompatible with life, and those with penile agenesis
as the only malformation. Associated anomalies occur
in a spectrum, including severe defects in the develop-
ment of the caudal axis, ~ genitourinary malforma-
tions, 2-7 and anomalies of the gastrointestinal tract. 5
MATERIALS AND METHODS
Six children with penile agenesis were treated between 1959 and
1984. Five patients were seen at the Hospital for Sick Children,
London, and the sixth was treated in Hungary. These cases illustrate
the different problems that can be encountered in this rare anom-
aly.
CASE REPORTS
Case 1
J.N. was born at term in 1974, the second twin of an uncompli-
cated pregnancy. At day one of life he was admitted having no penis
and no visible urethral meatus, but the scrotum was normally
formed. The chromosomes were 46 XY. Kidneys were not detectable
on further investigations and the baby died at age 7 days. Autopsy
revealed a normal testis in the left scrotum and a small intra-
abdominal right testis. The penis was absent, a clitoris-size nubbin of
erectile tissue was identified retropubically. The whole urinary tract
(kidneys, ureters, bladder, and urethra) was absent (Fig 1).
Case 2
L.T. was born in 1977, the pregnancy was complicated by
oligohydramnion. Birth weight was 2.8 kg. Absent penis was noted,
From the Hospital for Sick Children, London and the Depart-
ment o f Pediatric Surgery, Pbcs, Hungary.
Address reprint requests to Irene L. Oesch, MD, Ober~zrztin,
Chirurgische Universit?zts-Kinderklinik, Inselspital 3010, Bern,
Switzerland.
9 1987 by Grune & Stratton, Inc.
0022-3468/87/220~0022503.00/0
172
the scrotum appeared normal, and urine was discharged from the
rectum. Chromosomes were 46 XY. The parents agreed after 1 week
to further investigations and interventions. Cystoscopy revealed a
Y-duplication of the urethra. At age 2 weeks the gonads were
removed and histology showed fragments of primitive testes. Subse-
quent operations included excision of the rectourethral fistula,
scrotal inlay urethroplasty, and bladder neck reconstruction with
urethral reimplantation. The girl is 9 years old and dry on intermit-
tent catheterization.
Case 3
L.S., weighing 3.2 kg, was born in 1984 following a full-term
pregnancy complicated by the mother taking Tegretol (carbamaze-
pine) for previous epileptic fits. Absence of the penis in an otherwise
healthy baby was immediately recognized. On admission two gonads
were palpable in the scrotum and the urine was discharged from the
rectum. Endoscopy showed a Y-duplication of the urethra opening at
the anal verge. Chromosomes were 46 XY. At age 10 days, bilateral
gonadectomy was performed. Histology showed normal testicular
tissue on the left side and connective tissue on the right side. A
vesicostomy was done and the urethra transposed to the perineum.
The girl is 21/2 years old and showing signs of normal continence
development.
Case 4
J.B. was born in 1972 following a full-term pregnancy. There was
no phallus present and urine was passed from a urethral opening
behind a skin tag. Chromosomes were 46 XY. The scrotum appeared
empty. At age 3 months the epididymis and structures with no
testicular tissue on histology were removed from the groin. A
cutdown on the urethra in the midline and vulvoplasty were
performed simultaneously. The girl is continent for urine. During
puberty she showed severe behavior problems.
Case 5
J.F. was born in 1955 with an absent penis. The patient was 46
XY and raised as a male. Numerous operations to construct a penis
and a urethra from skin flaps and tube pedicled grafts were carried
out. Outlet obstruction by the perineal urethral meatus led to left
hydroureter and left hydronephrosis necessitating left reimplanta-
tion at age 9 years. The final result was not very satisfactory
cosmetically and functionally, but long-term follow-up is not avail-
able.
Case 6
A.P. was born after an uncomplicated pregnancy at term.
Absence of penis was noted. The scrotum appeared normal with two
gonads palpable in it. Chromosomal analysis showed 46 XY. Urine
was discharged from the rectum and hyperchloremic acidosis devel-
oped within days. A cystography was carried out by suprapubic
bladder puncture with pooling of the contrast material in the
rectosigmoid. At age 3 weeks the urethral meatus was transposed to
the perineum (Fig 2). At age 8 months the patient underwent
bilateral orchidectomy and the scrotum was preserved for future
vaginoplasty. Today the girl is fully continent for urine.
A s u m m a r y of the cases is shown in Table 1.
Journalof PediatricSurgery,Vol 22, No 2 (February), 1987: pp 172-174
PENILE AGENESIS: REPORT OF SIX CASES 173

~~ethral ning

S
A B
Fig 2. (A) The preoperative situation of case 6. The urethra
opened inside the rectum. Disconnection of the urethra and
perineal transposition is usually a straightforward procedure (B).

Fig 1. Autopsy specimen of a baby with aphallia (case 1) and
absence of the whole urinary tract.
DISCUSSION
Although the features of aphallia should be evident
at birth, diagnosis is often surprisingly delayed. Many
cases, even of these reported in the recent literature,
are not recognized immediately but only after months 2
or even years. 6 The patients with no other malforma-
tion and with a normally developed scrotum seem
especially prone to escape early diagnosis. There is no
reason, however, for not establishing the diagnosis and
initiating treatment early, and any delay can only
exacerbate the difficult management of these patients.
Diagnosis of an aphallic patient at birth dictates
female gender assignment with early gonadectomy as
the treatment of choice. It cannot be overemphasized
that gonadectomy should be performed before the
postnatal testosterone surge takes place. The aphallic
infant behaves like an otherwise normal male baby
having a normal testicular androgen response to

Table 1. Summary of Cases

Case No. Chromosomes Testes Kidneys/Urethra Operations Outcome

Case 1 Twin Right intra-abdominal, Absent urinary tract -- Died age 7 d
(J.N.) 46 XY left in scrotum
Case 2 46 XY Right and left in scro- Y-duplication of urethra Gonadectomy Raised as female, conti-
(L.T.) turn. Histology: Excision rectourethral fistula nent on intermittent
"fragments of primi- and scrotal inlay urethro- catheterization
tire testes" plasty
Bladder neck reconstruction
and reimplantation
Case 3 46 XY Right and left in scro- Y-duplication of urethra Gonadectomy Raised as female, await-
(L.S.) turn. Histology: "'left Vesicostomy ing continence (21/2yr)
normal, right con- Anterior transposition of ure-
nective tissue" thra
Case 4 46 XY Scrotum empty, go~ Urethra behind skin tag Gonadectomy Raised as female, conti-
(J.G.) nads in groin. His- Vulvoplasty nent for urine
tology: "no obvious Cutdown on urethra in mid-
testicular tissue, line
epididymis present"
Case 5 46 XY Right and left in scro- Urethra between scrotal Multiple reconstructive pro- Raised as male
(J.F.) turn folds, developed left cedures: reconstruction of
hydronephrosis urethra and penis with
tube pedicle graft
Case 6 46 XY Right and left in scro- Y-duplication of urethra, Urethra mobilized and trans- Raised as female, conti-
(A.P.) turn hyperchloremic acido- posed nent for urine
sis Gonadectomy
174
human chorionic gonadotropine (HCG). 3 Behavioral
problems and male psychological orientation in late
childhood were seen in the patients where gonadectom-
ies had been performed after 3 months of age.
The situation in aphallia requiring early orchidec-
tomy is totally unlike that of 46 XY male pseudoher-
maphrodites who are commonly assigned as female
following detailed investigations. In such cases there is
always a major defect in the testosterone synthesis-
receptor pathway and testosterone imprinting does not
seem to occur to the same extent as in the case of pure
penile agenesis.
It is difficult to be dogmatic regarding the gender
assignment of the occasional case presenting in later
childhood. However, we feel that in view of the severe
psychological problems encountered in some of our
cases, should the situation arise, it is probably appro-
priate to pursue male reconstruction designed to
receive a penile prosthesis. The only patient in our
series who was raised as male underwent many proce-
dures for genitourinary reconstruction including tube
pedicled grafts to create a penis without a very satis-
factory result (case 5), but modern techniques may be
more successful.
In the patients raised as females, genitourinary
reconstruction is performed by correction of the ure-
thral anomaly followed by vaginoplasty. If the urethral
REFERENCES
1. Berry SA, Johnson DE, Thompson TR: Agenesis of penis,
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2. Breda G: A case of complete agenesis of the penis with rectal
ectopia of the urethra. Chirital 25:328-333.6, 1973
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cases of penile agenesis. J Urol 126:556-557, 1981
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ology and management. Urology 1:226, 1973
OESCH, PINTER, AND RANSLEY
opening is between the scrotal folds, a simple cutback
of the urethral opening may be all that is required
(case 4). The most common form of urethral anomaly
is the Y-duplication of the urethra, opening at the anal
verge (cases 2 and 3) or inside the rectum (case 6).
These patients may develop symptoms similar to
patients with an ureterosigmoidostomy, and one child
(case 6) developed hyperchloremic acidosis.
The disconnection of the urethra from the anal canal
and its transposition to the perineum is quite straight-
forward and may be performed without difficulty. The
operation may be combined with a scrotal inlay ure-
throplasty, or, if additional urethral length is required,
with a free bladder mucosa graft. In our patients,
vaginoplasty was delayed or postponed until puberty.
Current opinion is that it may be preferable to perform
this earlier. Estrogen replacement therapy needs to be
instituted at puberty.
One third of the reported patients with penile agene-
sis show additional anomalies, and one child in our
series (case 1) had a complete absence of the entire
urinary tract. In the remaining patients, awareness of
the diagnosis and of the need to react promptly should
help to reduce the psychological and behavioral prob-
lems experienced by these children and prevent the
need for late sex-change procedures, and associated
psychological and behavioral problems.
5. Pavone L, Sciacca F, Gruttadauria G, et al: Agenesis of the
penis and penile urethra with anorectal atresia and type II esopha-
geal atresia. Ann Pediatr (Paris) 29:588-590, 1982
6. Pohlandt F, Kiihn H, Teller W, et al: Penile agenesis. Female
sex reassignment and psychotherapeutic management of parents.
Dtsch Med Wochenschr 99:2166-2171, 1974
7. Roth JK Jr, Marshall RH, Angel JR, et al: Congenital absence
of penis. 557. Urology 17:579 583, 1981