NOTE
Internal Medicine
Polled Intersex Syndrome with Urethral Atresia in a Goat
Shinichi YOKOTA1), Aya MATSUU1)*, Takehito MORITA2), Takeshi TSUKA3), Mitsugu HISHINUMA4),
Saburo MINAMI5) and Yoshiaki HIKASA1)
Departments of 1)Veterinary Internal Medicine, 2)Veterinary Pathology, 3)Veterinary Diagnostic Imaging, 4)Veterinary Theriogenology
and 5)Veterinary Surgery, Faculty of Agriculture, Tottori University, 4–101 Koyama-Minami, Tottori 680–8553, Japan
(Received 18 February 2011/Accepted 24 May 2011/Published online in J-STAGE 7 June 2011)
ABSTRACT. A 5-day-old hornless goat was referred with dysuria since birth. The scrotum was absent, and a small penis-like structure was
seen below the perineal raphe. On the laparotomy, the testicles were found near the inguinal ring- and attached to a uterus-like structure.
On histological analysis, the uterus-like structure was blind-end. Germ cells were absent in the testis. The karyotype of this goat was
60, XX and the SRY gene was absent. The goat was homozygous for a DNA deletion responsible for the Polled Intersex Syndrome
(PIS). To the authors’ knowledge, this is the first report as the clinical case of the PIS–/– goat with urethral atresia.
KEY WORDS: dysuria, hermaphroditism, intersex, PIS, urethral atresia.
J. Vet. Med. Sci. 73(10): 1355–1357, 2011
A 5-day-old hornless mongrel goat, a breed between
Shiba goat and Tokara goat, was presented to our faciliy
with dysuria since birth. The goat was anorexic and debilitated. A fluid-filled bladder was palpable. The testicles
were present in each inguinal canal, the scrotum was absent,
and a small penis-like structure was seen below the perineal
raphe (Fig. 1A). Since it was impossible to pass a catheter
through the penile tip, a bladder catheter was inserted
through the abdominal wall.
Urine taken from catheter was positive for protein and
occult blood, and cytological analysis showed the presence
of bacilli. All blood count values were normal, but serum
biochemical tests indicated high levels of potassium (7.4
mmol/l), blood urea nitrogen (44.6 mg/dl), and alkaline
phosphatase (742 IU/l). Abdominal ultrasonography
revealed slight dilatation of the renal pelvis, and intravenous
urography revealed a normal urinary tract from the kidneys
to the bladder. The goat was diagnosed with urinary tract
infection and mild post-renal azotemia. Fluoroquinolones
and Cephem antibiotics were prescribed for the urinary tract
infection, and intravenous fluid therapy was started for postrenal azotemia; the bladder catheter was maintained. The
general health of the goat improved, and urethrostomy and
castration were performed at 14 days after birth.
The goat was positioned in dorsal recumbency, the testicles were moved from inguinal region to abdominal cavity.
After an incision in the apical part of the bladder, we
attempted to pass the catheter, which was inserted from the
bladder into the urethral orifice; however we could not do so
because urethral orifice was closed at the distal-most position. Hence, a permanent external urethral opening was created, and a urethral catheter was placed. While performing
castration, the testicles were found near the inguinal ringand attached to a uterus-like structure, which ran parallel to
* CORRESPONDENCE TO: MATSUU, A., Department of Veterinary
Internal Medicine, Faculty of Agriculture, Tottori University, 4–
101 Koyama-Minami, Tottori 680–8553, Japan.
e-mail: [email protected]
the ductus deferens. No ovarian structures were noted in the
abdomen. For pathological examination, several structures
connected with the testicles were extracted (Fig. 1B). The
postoperative recovery was good. The urinary catheter was
removed 9 days after laparotomy, and the goat was discharged after more than 14 days.
Histopathological examination showed normal ductus
deferens and epididymis. The wall of the uterus-like structure was found, and the endometrial glands were absent
(Fig. 1C). This uterus-like structure which was assumed to
be the Müllerian duct was blind-end near the testis.
Although Sertoli cells and Leydig cells were detected in the
testis, germ cells were absent (Fig. 1D).
For karyotyping, chromosome preparations were
obtained from a peripheral blood lymphocyte culture and
stained with Giemsa. Cytogenetic evaluation revealed a
normal female chromosome complement, 60, XX. For
polymerase chain reaction (PCR) of the sex-determining
region Y (SRY), genomic DNA was isolated from the blood
samples of the goat and its parents as positive and negative
controls. The primers and PCR conditions were identical to
that mentioned in a previous report [7]. The PCR product
was then separated by agarose gel electrophoresis, stained
with ethidium bromide, and photographed in ultraviolet
light. SRY (a 660-bp fragment) was not amplified (Fig.
2A), and 60, XX pseudohermaphroditism lacking Y chromosome was concluded.
Using the blood samples used for SRY analysis, PCR was
performed to amplify DelE, a part of the region deleted in
Polled Intersex Syndrome (PIS) [9]. The primers and PCR
conditions were the same as that mentioned in a previous
report [7]. Additionally, β-globin (a 113-bp fragment) was
also amplified as an internal control, according to previous
report [6]. DelE was not detected in the affected goat,
whereas the expected 147-bp DNA fragment was obtained
in the parents (Fig. 2B). PIS in goats manifests as male
pseudohermaphroditism; it occurs in hornless XX females
and is caused by the homozygous deletion of the PIS gene
1356
S. YOKOTA ET AL.
Fig. 1. The external appearance and anatomical and histological features of the PIS–/– goat. (A) The urethral
orifice (thick arrow) located near the anus (white arrow), flanked by 2 folds representing the scrotum (thin
arrows). (B) The male internal genitalia represented by ductus deferens (d), epididymis (e), testis (t), and
pampiniform plexus (p). The uterus-like structure (u), which was considered as Müllerian duct is seen, connected to the testis. No ovarian structures are present. (C) The Uterus-like structure (right) is adjacent to the
ductus deferens (left), and is blind-end near the testis. Bar=500 m. (D) Histological section of the testis
showing Sertoli cells and Leydig cells. Germ cells are absent. Bar=100 m.
Fig. 2. Results of the PCR analysis for SRY and DelE in the PIS–/– goat. (A) Ultraviolet photograph
of 1.5% agarose electrophoresis gel showing the amplification products for SRY. Lane M: molecular-size marker. Lane 1: Positive control goat sample (from the male parent of the PIS–/– goat)
showing the 660-bp SRY band. Lane 2: Negative control goat sample (from the female parent of the
PIS–/– goat). Lane 3: The PIS–/– goat showing no SRY amplification. (B) Ultraviolet photograph
of 1.5% agarose electrophoresis gel showing the amplification products for -globin (Lanes 1, 2,
and 3; internal controls) and DelE (Lanes 4, 5, and 6). Lane M: molecular-size marker. Lanes 1, 2,
and 3: All samples of positive control, negative control, and PIS–/– goat showing the amplification
of the 113-bp band, which was presumed to be -globin. Lanes 4 and 5: The sample from male and
female parent of the PIS–/– goat showing the 147-bp band. Lane 6: DelE was not detected in the
PIS–/– goat. The goat was thus homozygous for DNA deletion causing PIS.
(including the DelE sequence) located at Chr1q43 [1, 13].
From the results, the goat was considered homozygous for
DNA deletion, which led to PIS.
Since reproductive disorders due to intersexuality are a
serious concern for dairy breeders, there are many reports on
genital organs abnormalities in goat hermaphrodites [5, 10,
11]. Despite the close association of the development of the
genital tract and the urinary systems, there are only few
reports on the urinary system of intersex goats and most of
these report cases of penile urethral diverticulum, concomi-
POLLED INTERSEX SYNDROME IN A GOAT
tant with urethral dilation, ectopic testis, aplasia of the genitalia, and hermaphroditism without any genetic diagnosis
[3, 4]. To the authors’ knowledge, this is the first report as
the clinical case of the PIS–/– goat with urethral stricture.
The genitalia of PIS–/– goats were classified typically as
follows: the masculine phenotypes characterized by a penis,
ductus deferens, epididymis, pampiniform plexus, and no
Müller derivatives, and feminine phenotypes characterized
by an enlarged clitoris, Wolffian structures, and Müllerian
derivatives [11, 14]. It is suggested that the present case
goat is a middle phenotype between a male and a female
type, because both bilateral Müllerian ducts and male genitalia were present. Although the cause remains unknown, it
is notable that the present case exemplifies PIS in a goat
with both Müllerian derivatives and masculine genitalia.
We performed castration and urethrostomy in a 14-dayold kid goat. To date, the kid is in good condition. According to previous reports [2, 11, 14], PIS–/– goat foetuses
showed genital ambiguity as early as 45 days post-reconstruction, when the testicles were descending. Leydig cells
appear to be active in a 3-month-old PIS affected goat,
secreting testosterone at an early age. An adult PIS–/– goat
diagnosed with advanced Leydig cell tumor probably
became hyperandrogenism [7]. Although the mortality of
PIS goats remains obscure, the risk of testicular tumors may
increase. Early diagnosis and castration in PIS goats may
improve the prognosis.
The present case was a mongrel between Shiba and
Tokara, which are generally recognized as original Japanese
endemic breeds without their horn. It is also estimated that
these pure native goats decreased by the introduction of Japanese Saanen which was established by breeding with some
European breeds [8, 12]. Therefore, the PIS deletion
detected in our case had a potential to be inherited through
the reproduction. However, a possibility that the PIS deletion of the case goat was occured independently at the same
locus in European goats could not be completely denied.
Further investigation is necessary to identify the gene-carrier goats in Japan.
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