Robert A Foster1. 1. Department of Pathobiology, Ontario Veterinary College, University of Guelph, Guelph, Ontario, N1G 2W1, Canada.
Abstract
PRACTICAL RELEVANCE: Any congenital or developmental abnormality of any part of the male or female reproductive tract is a 'disorder of sexual development' (DSD). The tricolored male cat phenotype, cryptorchidism, gonadal hypoplasia and incidental abnormalities such as cystic remnants or embryonic ducts are well-known feline DSDs. CLINICAL CHALLENGES: Full characterization of DSDs requires sex chromosome determination and identification of genes related to development of the gonads, internal tubular genitalia and external genitalia. Fortunately, affected cats are seen sporadically and the clinical effects are usually minimal. CLASSIFICATION: The classification nomenclature has changed. In place of intersex, hermaphrodite, pseudohermaphrodite and sex reversal, the newer standard classification, based on sex chromosomes, designates sex chromosome DSD when there is an abnormality in the sex chromosomes, and XX (female) and XY (male) DSDs where there is not. Identification of the gonadal type (testes, ovaries, ovotestes or gonadal dysgenesis) and documentation of the internal and external genital components completes the classification. EVIDENCE BASE: The original basis of the DSD classification was a consensus reached in humans. It was quickly accepted in veterinary pathology, courtesy of its logic and ease of application, and it has subsequently begun to appear in peer-reviewed papers and clinical reviews. This article reviewing the various disorders in cats is based on application of the classification and draws on the feline peer-reviewed literature encompassing chromosome analysis and definition of reproductive abnormalities, syndromes and diseases.
PRACTICAL RELEVANCE: Any congenital or developmental abnormality of any part of the male or female reproductive tract is a 'disorder of sexual development' (DSD). The tricolored male cat phenotype, cryptorchidism, gonadal hypoplasia and incidental abnormalities such as cystic remnants or embryonic ducts are well-known feline DSDs. CLINICAL CHALLENGES: Full characterization of DSDs requires sex chromosome determination and identification of genes related to development of the gonads, internal tubular genitalia and external genitalia. Fortunately, affected cats are seen sporadically and the clinical effects are usually minimal. CLASSIFICATION: The classification nomenclature has changed. In place of intersex, hermaphrodite, pseudohermaphrodite and sex reversal, the newer standard classification, based on sex chromosomes, designates sex chromosome DSD when there is an abnormality in the sex chromosomes, and XX (female) and XY (male) DSDs where there is not. Identification of the gonadal type (testes, ovaries, ovotestes or gonadal dysgenesis) and documentation of the internal and external genital components completes the classification. EVIDENCE BASE: The original basis of the DSD classification was a consensus reached in humans. It was quickly accepted in veterinary pathology, courtesy of its logic and ease of application, and it has subsequently begun to appear in peer-reviewed papers and clinical reviews. This article reviewing the various disorders in cats is based on application of the classification and draws on the feline peer-reviewed literature encompassing chromosome analysis and definition of reproductive abnormalities, syndromes and diseases.
Entities:
Keywords:
Disorder; ambiguity; anomalies; development; intersex; sexual
A disorder of sexual development (DSD) in human medicine is any abnormality, anomaly,
ambiguity or lesion that occurs because of a failure of development of the female or
male reproductive systems. This terminology replaces the terms intersex,
hermaphrodite, pseudo hermaphrodite and sex reversal,[1-4] and is increasingly being used
in veterinary medicine and science.The original purpose of the DSD terminology in humans was to ensure consistency and
to avoid the stigma of genital ambiguity and gender assignment in babies born with
disorders of the external reproductive system. The classification allowed for all
abnormalities of the reproductive tract to be categorized and defined in full. In
this review, the broader approach is used to include all disorders, not just
external sexual phenotypic ambiguity. Thus DSDs vary from major anomalies that
affect fertility or clinical wellbeing to incidental and minor changes to
structures.‘Intersex’ conditions were always defined by sex chromosome type and arrangement,
gonadal type and phenotype; this continues. In clinical veterinary medicine and
science, access to sex chromosome analysis and gene identification is limited to
research settings, so syndromes are often defined by gonadal and phenotypic sex
only. The stigma and gender issues of humans are not a factor in cats.Terms such as sex reversal, male feminization and persistent Müllerian duct syndrome
are now only used in veterinary medicine and science when referring to historically
defined clinical syndromes and will eventually be phased out.The classification of DSDs into sex chromosomal, gonadal and phenotypic categories is
now specific, accurate and more descriptive. It avoids the variation in the
definitions of what constitutes intersex, hermaphroditism and pseudohermaphroditism.
The classification begins with identifying the sex chromosomes and their make-up,
such as XX, XY, X, or XXY. There are many different genes and gene products involved
in normal sexual development in both males and females. SRY is the
gene that is the sex-determining region of the Y chromosome which results in the
development of a male, and R-spondin1 (RSPO1) is an early gene in
the development of a female. The convention in the scientific literature and adopted
in this review is to use italics and uppercase for the gene with a human homologue;
upper case and no italics is used for the protein product. SRY is the protein
product of SRY and RSP01 is the product of RSPO1.
Many publications now include the presence or absence of SRY in the
classification, and eventually RSPO1 could be a routine contributor
to the classification.The identification of individual disorders (summary box 1) does not usually allow the
exact classification to be determined (summary box 2). A single individual disorder
may occur with multiple classifications; for example, testicular hypoplasia is seen
variously in cases of sex chromosome, XX and XY DSDs.As yet, no veterinary diagnostic laboratory provides chromosomal analysis or gene
and/or protein identification for sexual development. When the various genes and
protein products are identified and molecular tests become available, the
classification system will expand to incorporate the genomics of sexual
development.There are many reviews, textbook chapters and conference proceedings devoted to
feline DSDs.[5-9] This article reviews the
current state of knowledge and outlines a diagnostic approach when disorders are
identified clinically either based on external genital development or changes
observed at ovariohysterec-tomy or castration (see summary box 1).
Clinical signs and lesions of disorders of sexual development (DSDs)
The pathogenesis of any disease has three major components: 1) cause, 2) mechanisms
and 3) lesions and/or clinical findings. A clinician identifies clinical findings
and/or lesions of DSDs by evaluating the external genitalia during a physical
examination, and the gonads and other components of the internal genitalia at
neutering. To fully characterize a DSD, chromosomal and genomic information is
required. The lack of access to such tests greatly restricts this part and thus this
review will not include all of the differentiation genes that are known in cats.
Gonadal and phenotypic components, including internal tubular genitalia, can be
defined, however. This requires careful histopathological evaluation (and sometimes
the expertise of a dedicated reproductive pathologist).Fortunately, cats affected with DSDs are seen sporadically and the clinical effects
are usually minimal (compared, say, with psychological effects in humans). Curiosity
is often the major reason for attempting to fully define a disorder. The following
discussion attempts to work backwards from the lesion or clinical findings to try to
identify the underlying DSD. As with many diseases, there is a disconnect between
what is seen clinically and the eventual classification or specific cause. Where
there are direct correlations between the lesion or observation and the mechanisms
and causes, these will be highlighted. A summary of the normal embryonic structures,
their origin and the adult counterparts is provided in Table 1 for reference.
Table 1
Normal embryonic structures, their origin, adult counterparts, and
controlling gene and hormone
Genes and factors involved in sex determination are in parentheses.
SRY inhibits female sexual development at multiple
sites
Normal embryonic structures, their origin, adult counterparts, and
controlling gene and hormoneAsterisk indicates regressionGenes and factors involved in sex determination are in parentheses.
SRY inhibits female sexual development at multiple
sites
Tricolored male cat
Any male cat with three colors in the haircoat must have at least two X
chromosomes; thus almost all have a sex chromosome DSD. The majority will have
XXY trisomy, or will be a mosaic or chimera (see later discussion of ‘Sex
chromosome disorders of sexual development’ for definitions). Some have other
poly-poidy. Their gonads can be testes or ovotestes and are usually hypoplastic.
The external genitalia can be male, ambiguous with male and female components,
and/or hypospadias may be present. Cryptorchidism is also common. These cats are
rarely fertile.
Hypospadias
Cats with hypospadias have an opening of the urethra on the ventral surface of
the penis. They typically also have a bifid scrotum - a divided scrotal sac,
with the penis and its ventral opening between the scrota (Figure 1). Most cats with hypospadias
have a sex chromosome DSD.
Figure 1
Cat with hypospadias and ambiguous genitalia.
Courtesy of Jonathan Mitelman
Cat with hypospadias and ambiguous genitalia.Courtesy of Jonathan MitelmanA cat with ambiguous external genitalia including penis and vulva could have a
sex chromosome DSD or, less commonly, an XX (female) chromosome or XY (male)
chromosome DSD.
Female external genitalia but internal testes
Most cats with a female phenotype including female genitalia, but with internal
testes or ovotestes, are classified as having an XY testicular DSD. There is no
testosterone production and no androgen receptor.
Anorchia, monorchia, cryptorchidism, testicular aplasia and
hypoplasia
Anorchia, monorchia and cryptorchidism are terms that mean no testes, one testis
or hidden testes, respectively. Cryptorchidism is the most common reproductive
disease in the male cat; it is an XY chromosomal DSD. The terms anorchia and
monorchia are often used incorrectly in clinical veterinary practice, and may
convey a misleading message to clients. The hidden testis (or testes) or their
remains are almost always found outside of the scrotum and either in the
inguinal canal or within the abdomen. A specific diagnosis to indicate the
cause, made after careful his-tological examination, is agenesis (testes did not
begin development), aplasia (did not grow), extreme hypoplasia (too small to
indentify at surgery) or post-necrotic atrophy (testis became necrotic and
scarred). Affected cats commonly have an XY testicular DSD.Failure to find one or both testes in the scrotum presents a clinical challenge.
If the results of hormone testing or the presence of penile spines indicate
functional testicular tissue, the first condition to exclude is cryptorchidism.
Surgery to remove the retained structure will hopefully reveal a testis and
epididymis (Figure 2);
this can usually be confirmed by histological examination. The main
possibilities if a testis is absent from the scrotum are:
Figure 2
In cats with abdominal cryptorchidism, the retained testis is often found
near the bladder.
Courtesy of Susan Little
✜ Previous surgical removal✜ Previous testicular necrosis✜ Testicular agenesis, aplasia or extreme hypoplasiaShould there be testicular hypoplasia or aplasia, and an epididymis present in a
cat that is not tricolored, this probably represents an XY testicular DSD.In cats with abdominal cryptorchidism, the retained testis is often found
near the bladder.
Courtesy of Susan Little
Ovarian hypoplasia or aplasia
Female cats lacking an ovary or ovaries, or with ovaries that are smaller than
normal, are a very rare finding and not fully described in the literature. Most
are classified as having XX gonadal dysgenesis or an XX ovarian DSD; gonadal
dysgenesis is where the gonad is too primitive to determine its type.
Ovarian/periovarian cysts or cysts near the uterus
There are a variety of retained embryonic ducts or tubules, and these may expand
and develop into cysts within or near the ovary or uterus. Cysts are derived
from either the parameso-nephric (future female) or mesonephric (future male)
ducts. These form from an embryonic duct that is an invagination of the celom,
or the mesonephric (male) tubules that derive from the mesonephros. Such cysts
are often an incidental finding and this is an XX ovarian DSD.
Segmental absence of the uterus
Phenotypically female cats with a partial absence of the uterus, diagnosed as
segmental aplasia, are classified as having an XX ovarian DSD (Figure 3).
Figure 3
Reproductive tract of a cat with segmental aplasia of a uterine horn.
Although one uterine horn may be hypoplastic or missing, the ipsilateral
ovary is almost always present.
In this case, the left uterine horn (L) is replaced by a solid
cord of smooth muscle and vascularised loose connective tissue. Arrows
denote corpora lutea within the ovaries. One site of placentation is
prominent (P). Reproduced, with permission, from Brookshire et
al (2017)
Reproductive tract of a cat with segmental aplasia of a uterine horn.
Although one uterine horn may be hypoplastic or missing, the ipsilateral
ovary is almost always present.
In this case, the left uterine horn (L) is replaced by a solid
cord of smooth muscle and vascularised loose connective tissue. Arrows
denote corpora lutea within the ovaries. One site of placentation is
prominent (P). Reproduced, with permission, from Brookshire et
al (2017)
Classification of disorders of sexual development (DSDs)
The classification of DSDs begins with the sex chromosome composition. A normal cat
has 38 chromosomes per cell; these 38 represent 19 matching pairs, 19 from each
parent. A cell with 38 normal chromosomes is ‘diploid’. Those cats with an abnormal
composition of sex chromosomes have a sex chromosome DSD. Gonadal type is not part
of the sex chromosome DSD classification.Those animals with a congenital abnormality of the reproductive system and with a
normal XX (female) or XY (male) chromosome complement have an XX DSD or XY DSD,
respectively. Testing for SRY is most commonly reported in the
literature; so, if available, the SRY status is included.
Accordingly, there are XX SRY-positive, XX SRY-negative, XY
SRY-positive and XY SRY-negative DSDs.The next part of the classification concerns gonadal type. The main possibilities are
testes, ovaries, ovotestes and gonadal dysgenesis. This determination is established
histologically and accurate classification may require the input of a reproductive
pathologist (see summary box 2).As alluded to earlier, the sex chromosome composition and/or gonadal type cannot
always be predicted by the clinical signs or lesions. Similar clinical findings can
occur with a variety of chromosome and gonadal types. Thus the information in
summary boxes 1 and 2 may not always align with the actual lesions or changes
present.
Sex chromosome disorders of sexual development
There are many sex chromosomal disorders identified in cats (see summary box 1)
and the most studied and well known is the tortoise-shell/tricolor/calico male
cat with DSD. Because the locus responsible for orange (or red) coat color
(O/o locus) is located on the X chromosome, normal male
cats (XY SRY-positive) can be either orange or not orange. A
male cat with a tricolored coat almost certainly has two X chromosomes and an
SRY; most are XXY.There are many case reports of cats with sex chromosome abnormalities. The
seminal paper - focusing on male tortoiseshell and calico cats - was published
by Centerwall and Benirschke almost 50 years ago.
Cats with abnormal numbers or arrangements of sex chromosomes are
variously aneuploid, poly-ploid, mosaics or chimeras.✜ Aneuploidy refers to an abnormal number of chromosomes. Aneuploid
cats typically have one X chromosome only, thus have monosomy (analogous to
Turner syndrome in humans),[11,12] or alternatively XXY
trisomy (analogous to Kleinfelter syndrome in humans).[5,13-18] Animals with X monosomy
have ambiguous genitalia. Cats with XXY trisomy are usually tricolor males that
often have cryptorchidism and/or testicular hypoplasia.✜ Polyploidy describes two paired sets of the same chromosomes. This
includes cats that are XXXY.[5,14,16] These cats are usually
male tricolored and many have testicular hypoplasia.✜ Mosaicism is when there are two or more genetically different sets
of cells, and 38,XX and 38,XY is the usual type.
Other combinations include X/XY,
XY/XXY and X/XX/XY/ XXY.
Cats are usually tricolor male with cryptorchidism and persistent
paramesonephric ducts (uterus).✜ Chimerism is when there are chromosomes from different individuals
in one individual, with chromosomes being acquired from two zygotes. Feline
chimeras are typically 38,XY/ 38,XY.[5,18,20] They are usually tricolor
male cats.
XX disorders of sexual development
Cats with an XX DSD can have ovaries, testes, ovotestes or gonadal dysgenesis.
These disorders are categorized as XX ovarian, XX testicular, XX ovotesticular
or XX gonadal dysgenesis DSDs, respectively. It is easy to miss the ovarian
component of an ovotestis and reproductive pathologists make a concerted effort
to identify ovarian tissue, especially if a DSD is suspected. Among XX DSDs, the
most common are XX ovarian DSDs, and the lesions are aplasia, hypoplasia,
segmental aplasia, embryonic duct and tubule remnants and duplications.
XX ovarian DSD and female phenotype
Cats with a normal diploid chromosomal complement and normal ovaries can have
a wide variety of congenital abnormalities of their reproductive system.
Some examples are described below.✜ Cystic rete ovarii develop when the rete ovarii, primitive
tubules derived from the remnants of mesonephric (future male) tubules of
the early embryo, and which are located in the hilus of the ovary, become
distended with fluid. The result is an ovary expanded by one or more cysts.
Rete cysts, which are thin-walled epithelial structures that displace
ovarian tissue peripherally, can be up to 2.5 cm in diameter.✜ Mesonephric tubule cysts are incidental findings. Mesonephric
tubules arise close to the ovary from the mesonephros (or transient second
kidney; see Table
1) and give rise to cysts near the ovary, typically adjacent to
the ovarian hilus and close to the rete ovarii.✜ Mesonephric and paramesonephric duct cysts develop from
remnants of these ducts. Paramesonephric (future female) and mesonephric
(future male) ducts arise from division of a tube that develops on each side
of the retroperitoneum. In normal females, the mesonephric duct regresses
and disappears. In males, the paramesonephric duct regresses and disappears
when anti-Müllerian hormone is produced by primitive sustentacular (Sertoli)
cells in the embryonic testis. In females, remnants and their cysts of the
mesonephric and paramesonephric ducts may occur along the pathway of the
paramesonephric duct, which becomes the uterine tube, uterus and cranial
portion of the vagina. Mesonephric duct remnants in the vagina, known in
humans as Gartner’s ducts, are reported in cats.✜ Paramesonephric duct cysts and uterine duplication describes a
structure or cyst with an endometrium that is found beside the uterine tube,
uterus or cranial vagina. These structures and cysts are typically located
at the mesometrial attachment of the uterus. Seldom is there complete
uterine duplication.[21,22] Just like cysts of
mesonephric tubules, these are usually incidental findings.✜ Segmental aplasia of the paramesonephric duct is very common.
A segment of the paramesonephric duct (future uterine tube, uterus or
cranial vagina) fails to develop, the cause of which has not been
established. The affected portion of the uterus is missing but the
mesometrium remains. The missing portion is often one uterine horn (Figure 3),[10,21,24-26] but
there are reports of failure of the cervix and cranial vagina to
form.[21,27,28] Any remaining uterus craniad to the missing portion
will be dilated and filled with fluid or inspissated contents.
XX ovarian DSD and male phenotype
Cats with an XX sex chromosome complement, ovaries and female tubular
genitalia, but a male phenotype with a penis, prepuce and scrotum, are
exceedingly rare.
They are only identified when laparotomy for removal of a cryptorchid
testis results in the discovery of ovaries and female internal genitalia.
The cause is deficiency of one of the enzymes responsible for cortisol
formation, which leads to excessive testosterone production and congenital
adrenal hyperplasia.
XX testicular DSD
For a cat to have an XX sex chromosome type and a testis and/or male tubular
genitalia and evidence of male phenotype there must be an
SRY gene or another gene that produces a product
similar to SRY. There are two reports of phenotypic male cats, each with a
penis and scrotum but with XX sex chromosomes. One was tricolored and XX
SRY-negative (Figure 4),
and the other was XX and SRY-positive.
Figure 4
(a) Tortoiseshell cat documented as having an XX testicular
(SRY-negative) DSD - the only such case
reported to date. The cat had hypoplastic testes and a normal penis (b).
Images courtesy of Stefano Romagnoli
(a) Tortoiseshell cat documented as having an XX testicular
(SRY-negative) DSD - the only such case
reported to date. The cat had hypoplastic testes and a normal penis (b).Images courtesy of Stefano Romagnoli
XX ovotesticular DSD
XX ovotesticular DSD has not, to date, been reported in cats.
XX gonadal dysgenesis DSD
Dysgenesis refers to altered development of the gonads, such that the
structures are not identifiable as testis or ovary, yet there are gonadal
components present (eg, sex cords, interstitial endocrine cells or stroma).
Some of these structures are visible at surgery; others are not, but are
microscopic. (Agenesis is when there is no development of any part of the
gonad - this requires careful histological evaluation to confirm, and is so
rare it is not given a separate category here.)Cats with an XX chromosomal complement and no visible gonads on surgical
exploration are exceedingly rare. Often reproductive pathologists are called
upon to identify this abnormality, particularly when gonadal tissue appears
either to be missing or minimal at ovariohysterectomy. Cats with these
abnormalities are phenotypically normal females but have an immature uterus
and vagina. They fail to cycle.
XY disorders of sexual development
Cats with an XY DSD can have testes, ovaries, ovotestes or gonadal dysgenesis.
These disorders are categorized as XY testicular, XY ovarian, XY ovotesticular
or XY gonadal dys-genesis DSDs, respectively. Just as for XX DSDs, it is easy to
miss the ovarian component of an ovotestis and reproductive pathol-ogists make a
concerted effort to identify ovarian tissue, especially if a DSD is suspected.
Among XY DSDs, the most common lesions are aplasia, hypoplasia, segmental
aplasia, embryonic duct and tubule remnants and duplications.
XY testicular DSD
Normal tubular genitalia and normal scrotum✜ Congenital phimosis and obstruction or partial obstruction of
the preputial orifice or tip of the penis has been reported, and surgical
correction described.
In a prepubertal animal it may be difficult to determine whether
phimosis, which is normal at this age due to the presence of the
balanopreputial fold (see accompanying review on the tom in this series), is
a congenital condition or if it will resolve as it typically does at
puberty.✜ Diphallia (a double penis) is a rare disorder and there is one
report in a cat.✜ Persistent penile frenulum - retention of the attachment of
the penis and prepuce - is a rarely reported disorder.✜ Testicular hypoplasia and aplasia (the latter referring to no
testis present) can be challenging to distinguish, particularly in cases of
extreme hypoplasia or even degeneration or necrosis. This requires a
diligent search for any testicular tissue; to be thorough, all parts of the
surgically removed tissue are examined histologically, preferably by a
reproductive pathologist.✜ Testicular hypoplasia, where the testis does not develop to
its normal size at the expected time of puberty, is always accompanied by
failure of the epididymis to acquire its normal size too. Most cases of
hypoplasia are the result of cryptorchidism, but in the context of an XY
testicular DSD, the testes have descended normally
and thus hypoplasia is a primary condition.
While hypoplasia is almost always observed as a failure of the
prepubertal testis to enlarge to its normal size at puberty, there may be
cases where even the prepubertal testis is smaller than normal.Hypoplasia is best diagnosed clinically by identifying that the testis has
not increased to its normal size at puberty. However, testicular size is
seldom monitored in cats and so the presence of a small testis could
indicate either hypoplasia (a potentially genetic or heritable condition -
at least in other species) or atrophy (an acquired condition that results
from degeneration of the seminiferous tubules).Hypoplasia is variable in its degree. In production animals,
testicular volume or scrotal circumference is measured and a certain size is
deemed to be the minimum acceptable. Testes smaller than the minimum size at
puberty usually have some degree of hypoplasia - in some, there are only
mild changes but, in others, they are extreme. The literature suggests that
many cats with testicular hypoplasia have chromosomal anomalies (see above
discussion of ‘Sex chromosome disorders of sexual development’), so this
must be excluded by sex chromosome analysis.All retained testes are hypoplastic because internal temperatures are higher
than in the scrotum. There is variation in the degree of hypoplasia in
cryptorchid testes; at its extreme, there may be just a microscopic amount
of testicular tissue present.✜ Spermatic granuloma of the epididymal head is a rare XY DSD.
Testicular fluid from the seminiferous tubules enters the tubules of the
mediastinum testis, and then the rete testis, which becomes the efferent
ductules. In turn, the efferent ductules, which are derived from the
mesonephric tubules, connect to the single tube which is the epididymal duct
(derived from the mesonephric duct). When one or more of the efferent
ductules are blind-ending and do not connect with the epididymal duct,
cystic dilation of efferent ductules, and sometimes also the rete testes,
occurs. This results in obstruction of outflow of rete testis fluid and an
increase in pressure. Either cystic distension of the rete testis occurs or,
after puberty, spermiostasis, spermatocele and then spermatic granulomas
develop.[22,23] These are all rare findings.✜ Aplasia and segmental aplasia of the mesonephric duct refers
to absence of part of the mesonephric duct, which gives rise to the
epididymis and deferent duct. Usually the tail of the epididymis is missing.
Reports in cats are scant: there is one documented case of a cat with a sex
chromosome DSD that was XXY.✜ Persistent paramesonephric ducts describe failure of the
paramesonephric (female) ducts to regress. These ducts, as discussed, give
rise to the uterine tube, uterus and cranial vagina in females. This anomaly
is the result of a deficiency in anti-Müllerian hormone or a lack of the
hormone receptor. In dogs there is a well-recognized syndrome known as
persistent Müllerian duct syndrome (named before the Müllerian duct was
renamed the para-mesonephric duct). An identical syndrome occurs in cats.
The persistent paramesonephric (Müllerian) duct can be found parallel to the
deferent duct and beside the epididymis. It is possible for pyometra to
develop in these persistent paramesonephric ducts.Normal tubular genitalia and external genitalia lacking scrotal testes✜ Cryptorchidism (retained, undescended or ‘hidden’ testicle[s])
is the most common abnormality of the feline male reproductive tract.
In two studies cryptorchidism was reported to affect between 1.3 and
1.7% of male cats.[33,34] In one of the studies,
there was no predisposition for abdominal vs inguinal cryptorchidism
and, in the other, an increased likelihood of the inguinal form.
Left and right unilateral cryptorchidism occurred with equal
prevalence. Most cases of cryptorchidism are in XY testicular males.
Cryptorchidism is also a feature of sex chromosome DSDs.Normally, the testes are within the scrotum at or soon after birth. Before
puberty, the retained testis is identical to the descended testis in every
way except for location. With the onset of puberty, there is no
spermatogenesis in cryptorchid testes, so the histological appearance is
identical to that of a prepubertal testis. In a postpubertal cat,
cryptorchid testes are hypoplastic.✜ Any congenital or developmental abnormality of any part of the
male or female reproductive tract is a disorder of sexual
development (DSD).✜ Full characterization requires sex chromosome determination,
identification of genes related to development of the gonads,
and evaluation of both the internal tubular genitalia and
external genitalia.✜ The standard classification based on sex chromosomes is sex
chromosome DSD when there is an abnormality in the sex
chromosomes, and XX DSD and XY DSD when there is not.✜ Identification of the gonadal type (testes, ovaries, ovotestes
or gonadal dysgenesis) and listing of the internal and external
genital components completes the classification.✜ Cryptorchidism and incidental abnormalities such as cystic
remnants of embryonic ducts are common DSDs.Normal tubular genitalia and external genitalia, and an additional testis✜ Polyorchidism (more than two testes) is reported only rarely
in cats. There are single reports documenting three
and four
testes in individual cats. In both animals, the testes each had their
own epididymis and deferent ducts that fused to form one duct.Male or female tubular genitalia and hypospadias or ambiguous external
genitaliaMale cats with hypospadias and/or a vulva and vagina are reported. (Previous
terminology for those with a female phenotype and external genitalia was
male feminization syndrome.) Many have a sex chromosome DSD. Some have
normal male sex chromosomes
and, where examined, are also
SRY-positive.[38-42] They may have a
failure of expression of the androgen receptor.
The testes are usually cryptorchid or, if scrotal, are hypoplastic.
XY ovotesticular DSD
There is one report of a phenotypically male cat with penis and scrotum, and
ovotestes in the location of the ovaries. This cat had both male and female
tubular genitalia. It was 38,XY, SRY-positive.
XY ovarian DSD
This type of DSD is not well described in cats in the literature.
XY gonadal dysgenesis DSD
This type of DSD is not well described in cats in the literature.
Authors: Lisa De Lorenzi; Barbara Banco; Carlo Previderè; Stefania Bonacina; Stefano Romagnoli; Valeria Grieco; Pietro Parma Journal: Sex Dev Date: 2017-08-26 Impact factor: 1.824
Authors: M Batista-Arteaga; M Santana; A Espinosa-de-los-Monteros; S Déniz; D Alamo; P Herráez Journal: Reprod Domest Anim Date: 2011-11-22 Impact factor: 2.005
Authors: V N Meyers-Wallen; J D Wilson; J E Griffin; S Fisher; P H Moorhead; M H Goldschmidt; M E Haskins; D F Patterson Journal: J Am Vet Med Assoc Date: 1989-09-01 Impact factor: 1.936