Keywords
Hernia uteri inguinalis - magnetic resonance imaging - ovotesticular disorder of sexual
differentiation - true hermaphrodite
Introduction
Neonate with ambiguous genitalia can cause great apprehension for the family as well
as for healthcare providers. Timely and appropriate gender assignment is necessary
for healthy physical and psychologic development of these children. Work-up is best
accomplished with a coordinated medical team that includes a pediatric endocrinologist,
geneticist, urologist, and radiologist to ensure timely diagnosis and proper management.
Imaging plays an important role in accurately demonstrating the anatomy and possible
effects on other organs.[1]
Disorder of sexual differentiation (DSD) is defined as a condition in which chromosomal
sex is inconsistent with phenotypic sex, or in which the phenotype is not classifiable
as either male or female, and the estimated prevalence is about 0.018% (i.e., one
in 5555 persons).[2],[3]
Hernia uterine inguinale is a rare condition and an even more uncommon cause of loin
pain, instead presenting as an asymptomatic palpable groin mass early in life. This
has been rarely reported in the literature associated with true hermaphrodite or ovotesticular
disorder of sexual differentiation (OT-DSD) with only three cases being reported worldwide
thus far, including our case. It is most often seen in a phenotypically normal male
infant having both testes and uterine tissue present. Abdominal and pelvic imaging
is useful in the diagnosis of this condition because it may aid in identifying patients
with coexisting Müllerian malformations.
Case History
A 20-year-old phenotypic male presented with left inguinal swelling and pain since
1 month. He had a past surgical history of repair of hypospadias 10 years back. On
examination, sparse facial hair was noted. Axillary and pubic hair (Tanner stage 4)
was noted. Phallus length was 3.5 cm [Figure 1]B. Bilateral gynecomastia [Figure 1]A with left indirect inguinal hernia was noted. Left testis was not identified.
Figure 1 (A and B): (A) Phenotypic male patient with bilateral gynecomastia. (B) Small phallus with scrotum
Abdomen and inguino-scrotal ultrasound revealed solitary small testis in the right
scrotal sac with an approximate volume of 3 cm3
[Figure 2]A, solitary normal-sized ovary in the left scrotal sac with an approximate volume
of 6 cm3
[Figure 2]B, and left indirect inguinal hernia with suspicious uterus and fallopian tube in
the hernia sac [Figure 2]C.
Figure 2 (A-C): (A) Grey scale ultrasound image shows small testis in the right scrotal sac. (B)
Grey scale ultrasound image shows normal sized ovary with follicles in the left scrotal
sac. (C) Grey scale ultrasound image shows left inguinal hernia sac with non-functioning
uterus within it
On biochemical examination, testosterone (156 ng/dl) and dehydroepiandrosterone sulfate
(79 μg/dl) levels were below normal range; however, follicle stimulating hormone,
luteinizing hormone, progesterone, prolactin, and thyroid hormones were within normal
range.
Karyotyping showed 46XX [Figure 3] and fluorescence in situ hybridization was negative for sex determining region-Y (SRY) gene [Figure 4]. Patient was subjected to magnetic resonance imaging (MRI) pelvis, which demonstrated
solitary testis in the right scrotal sac [Figure 5]A with inguinal hernia on the left side with herniation of ovary and nonfunctioning
uterus [Figure 5]B. Prostate could not be definitely identified. Contralateral testis and ovary were
not identified.
Figure 3: Double X chromosomes with absent Y chromosome suggestive of genotypic female)
Figure 4: Fish shows two X with absent SRY gene
Figure 5 (A and B): (A) Coronal T2 weighted MRI pelvis shows testis in the right scrotal sac. (B) Coronal
T2 weighted MRI pelvis shows left inguinal hernia with left ovary and non-functioning
uterus
On operation, the left inguinal sac contained small uterus, ovary, and fallopian tube,
which was excised. The histopathology confirmed the same [Figure 6]A,[Figure 6]B,[Figure 6]C. Psychiatric counseling was done and decided to raise the patient as a male. Testis
was retained.
Figure 6 (A-C): (A) HPE shows ovarian follicle. (B) HPE of uterus shows endometrium with adenomyosis.
(C) HPE shows fallopian tube
Discussion
OT-DSD is a congenital anomaly characterized by the presence of both ovary and testis
tissues. Genotypic sex is determined by chromosomes. For phenotypic sex development,
these chromosomes activate some pathways and hormones. In the presence of SRY gene,
differentiation into male phenotype begins. Absence or inactivation of SRY gene causes
the development of the female phenotype.[4] Fetus has both Müllerian and Wolffian ducts until the sixth week of gestation. In
early gestational period (<7 weeks), embryological developmental defect influences
both Wolffian and Müllerian ducts.[5] Testicular testosterone production promotes the growth of Wolffian duct. Anti-Müllerian
hormone (AMH) is secreted by sertoli cells. AMH is responsible for regression of Müllerian
duct between 8 and 10 weeks of gestation. Any abnormality during gonadal development
and differentiation of male or female phenotype can result in DSD. Either of the Müllerian
duct remnants, such as the uterus, fallopian tube, and cervix, is also seen in patients
with OT-DSD.[5]
In 2006, a task force sponsored by the European Society for Pediatric Endocrinology
and the Lawson Wilkins Pediatric Endocrine Society proposed a new nomenclature and
classification system as well as new management recommendations for DSD.[6] These disorders were further subdivided into 46XY DSD (disorders of gonadal or testicular
development and impaired androgen synthesis or action), 46XX DSD (disorders of gonadal
or ovarian development and androgen excess), and chromosomal DSD (numeric sex chromosome
anomalies). There is some overlap between these three subgroups.
This new terminology has replaced the older terms hermaphroditism and pseudohermaphroditism
and emphasizes the genetic origin of the disorders.[3] In the presence of the penis, hypospadias is commonly seen. If testis is present,
it is usually undescended. Due to undescended testes, infertility is a common problem
but ovulation or spermatogenesis can occur. In delayed diagnosis of OT-DSD, there
is also a high risk of malignancy in the ectopic gonads.[7],[8] Therefore, surgery is necessary in the treatment of OT-DSD. Ocal G has prepared
a diagnostic algorithm of 46XX DSD for new classification [7]
[Figure 7].
Figure 7: Diagnostic algorithm of 46XX DSD
The imaging modalities can be used for preoperative evaluation of anatomy. Ultrasound
(US), computed tomography (CT), or MRI can be performed. US is cost-effective, dynamic,
noninvasive, and easily available and can differentiate the echotexture of ovaries
and testis definitively. It can be used as primary imaging modality, especially with
different approaches (transabdominal, endoluminal, and transperineal). Transperineal
US can be performed using conventional and high-resolution linear probe positioned
directly above the anus, and may capture images of the anal canal, rectum, puborectalis
muscle, vagina, uterus, urethra, and urinary bladder. CT has a limited role in evaluation
of DSD due to poor soft tissue resolution of pelvis.
MRI helps to characterize the abnormal pelvic anatomy. MRI examination should be reserved
for cases in which DSD is suspected but US failed to identify the gonads, or when
proper differentiation between clitoral hypertrophy and micropenis is required for
proper precorrective surgery assessment.[9] MRI multiplanar investigation with high-contrast resolution provides excellent soft
tissue characterization. The other advantage of MRI is lack of radiation exposure.
“Hernia uteri inguinalis” is rarely seen in DSD with only three cases being reported
worldwide thus far, including our case. Two other cases are reported by Venkataram
et al.[10] and Ceylan et al.[11] Infants and children born with DSD pose a diagnostic and therapeutic challenge to
the clinicians and radiology plays a very important role in management.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms.
In the form the patient(s) has/have given his/her/their consent for his/her/their
images and other clinical information to be reported in the journal. The patients
understand that their names and initials will not be published and due efforts will
be made to conceal their identity, but anonymity cannot be guaranteed.
