birth of a child with ambiguous genitalia often imparts great deal of apprehension and confusion to the involved families . diagnostic workup and timely designation of the gender to these patients
clitoromegaly refers to an abnormal enlargement of a female clitoris , thus masquerading as a male penis .
most of the cases of clitoromegaly in pediatric age group are attributed to hormonal etiologies with minority of cases affected by nonhormonal causes such as neoplastic infiltration .
although complete diagnostic workup of these patients consists of extensive hormonal and chromosomal assays , in practice , pelvic imaging constitutes a vital preliminary step in evaluation . because of unparalleled tissue characterization and multiplaner capabilities , pelvic magnetic resonance imaging ( mri ) not only adequately depicts the urogenital anatomy in the hormonal causes of female virilization but also aids in surgical planning .
moreover , amongst the nonhormonal etiologies , mri can also comprehensively delineate mass lesions infiltrating the clitoris . in this report , we present such a case of ambiguous genitalia in a female baby with congenital clitoromegaly , in which pelvic mri and mr neurography revealed the presence of extensive neurofibromatosis in the clitoris and lumbosacral regions .
a 7-year - old child presented to the outpatient department of endocrinology clinic of our hospital for evaluation of ambiguous genitalia and intersex state . on physical examination [ figure 1 ] , there was presence of multiple light to dark brown patches of pigmentations in the lower abdomen , perineal region , bilateral groins , and upper thighs .
the examination of genital region revealed a small penis that looked like an enlarged clitoris , with small scrotum that was separated and looked like labia .
based on the clinical examination , the child was presumed to be genetic male and referred for karyotyping and ultrasound of pelvis to look for undescended testes .
however , the patients karyotype came out to be 46xx and pelvic sonography revealed normal appearing uterus and bilateral ovaries .
endocrine evaluation was done that ruled out precocious puberty , congenital adrenal hyperplasia , and other hormonal causes of clitoromegaly .
lumbosacral plain radiographs were obtained which showed widened neural foraminae at the sacral vertebral level [ figure 2 ] .
mri was performed on a 1.5 t superconducting system ( magnetom avanto , seimens medical system , erlangen , germany ) .
the scan was performed in supine position after cushioning the legs with arms folded on the chest .
the sequences used were fse t2 sagittal , axial with fat saturation , and coronal with fat suppression , and se t1 coronal and axial with post contrast images .
postcontrast volume extrapolated breath - hold examination ( vibe ) axial and coronal images were also obtained with fat suppression .
pelvic mri ( sagittal t2 weighted images ( wi ) and coronal t1w sequences ) confirmed the presence of a uterus measuring approximately 5  1.5  1.5 cm ( appropriate for age ) with normally visualized vagina and bilateral ovaries .
t2w images showed homogenous lobulated mass lesions in bilateral sacral neural foraminae extending along bilateral lumbosacral plexus .
distal extent of these masses , however , could not be delineated on these images .
mr neurography [ figures 3 and 4 ] of lumbosacral and thigh regions was performed using three - dimensional ( 3d ) short tau inversion recovery sampling perfection with application - optimized contrasts using varying flip - angle evolutions ( stir - space ) , which revealed the presence of multiple , lobulated , homogenous mass lesions long the nerve roots of bilateral lumbosacral plexus , bilateral sacral neural foraminae , extending into right thigh along the femoral nerve and bilateral broad ligament . a similar signal intensity and enhancement pattern
was also noted within the hypertrophied clitoris and bilateral mass lesion measuring approximately 5  2  4 cm was seen involving clitoris and bilateral labial tissue .
a provisional diagnosis of neurofibromatosis-1 was given based on the mri picture of plexiform neurofibroma and presence of extensive cafe au lait spots .
the patient was referred to pediatric surgery department where excision of the clitoris mass was done with clitoroplasty .
multiple brown patches of pigmentations are seen in the lower abdomen , perineal region , bilateral groins , and upper thighs .
there was a lobular swelling in the right thigh along with ambiguous genitalia plain lateral radiograph of lumbosacral region shows widened sacral neural foramina ( arrow ) mr neurography : enlarged lobulated , serpentine , homogenous mass lesions are seen along the nerve roots of bilateral lumbosacral plexus , bilateral sacral neural foraminae , extending into bilateral thighs along femoral nerves which represent plexiformneurofibromas ( arrows ) .
note is also made of similar subcutaneous lesion in right medial thigh ( arrow ) mr neurography : hyperintense mass lesion is seen involving the clitoris ( arrow ) .
imaging forms an important step in the assessment of internal urogenital anatomy in a child with ambiguous external genitalia . ultrasound ( us ) still forms the first step in imaging of these patients for reasons beyond its widespread availability , primarily because complete screening of inguinal , perineal , renal , and adrenal regions can be performed quickly in the same examination .
notwithstanding the initial evaluation , mri has a dominant status as the problem solving tool , contributing to the accurate morphologic evaluation of mllerian duct structures , the gonads , and the development of the phallus .
a simple and elegant imaging algorithm has been suggested by chavhan et al . for evaluation of children with ambiguous genitalia .
palpable gonads confirmed as testes on us , along with absence of uterus and ovaries should be diagnosed as male pseudohermaphrodite .
however , presence of scrotal or abdominal testis along with demonstration of uterus on imaging , points toward the diagnosis of persistent mullerian duct syndrome , mixed gonadal dysgenesis or true hermaphroditism , depending on the absence of ovary , presence of extra streak gonad or an extra ovotestes , respectively .
absence of palpable gonad or intraabdominal testes , along with us demonstration of uterus and ovaries should be assigned as female pseudohermaphrodite . in cases where us fails to demonstrate ovary in setting of
well visualized uterus , mri should be performed to search for ovarian tissue before labelling the case as pure gonadal dysgenesis in which streak gonads are present instead .
clitoromegaly associated with female pseudohermaphroditism ( 46 , xx ) is defined as clitoral index ( length  width ) more than 15 mm in a neonate .
poorly delineated supporting structures on mri such as bulbospongiosus , transverse perinei muscles provide a clue to differentiate hypertrophied clitoris from a normal penis .
congenital enlargement of clitoris is most commonly caused by congenital adrenal hyperplasia or enzyme defect in pathways of steroid biosynthesis .
less frequently , various nonhormonal conditions such as neurofibromatosis , epidermoidcysts , hemangiomas , nevuslipomatous cutaneous superficialis are reported causes implicated in clitoromegaly .
isolated case reports of other lesions such as abscess , transitional cell carcinoma , melanoma , and lymphoma are also described in the literature . as was in our case , imaging is vital and often first to point out such diagnoses .
plexiform neurofibromas , in the setting of neurofibromatosis type i , are the most commonly reported neoplasm of clitoris , thus resulting into female pseudohermaphroditism . although conventional mr sequences have been traditionally considered as the gold standard for diagnosis of neurofibromatosis , recent advent of mr neurography has imparted improved confidence in diagnosis and in aiding surgical planning through its multiplaner capabilities , precise and complete lesion localization , elegant tissue characterization and absence of partial volume averaging compared to conventional sequences .
unidirectional motion probing gradient with higher diffusion moment ( b value > 800 s / mm ) is applied in anteroposterior direction in the axial plane as diffusion is more restricted across the nerve .
the authors have used 3d stir space ( sampling perfection with application optimized contrasts using varying flip angle evolutions ) in the index case , which is used in the imaging of nerve plexuses .
other sequences available for neuronal mr imaging are 3d spair space , 3d t2 space , and 3d ciss which are deployed in the evaluation of extremities , spinal cord ( mr myelography ) , and cranial nerves , respectively . as in the present case
, 3d images generated by mr neurography can elegantly demonstrate exact extent of the lesion with recognition of even subtle alterations in contour and thickness of the involved nerves .
besides differentiation from other mimicking vascular and lymphatic lesions , mr neurography can also display otherwise inconspicuous internal fascicular structure of the neural lesion , disruption of which indicates towards malignant peripheral nerve sheath tumors in nf1 .
recent literature also describes the use of diffusion tensor imaging as useful adjunct in mr neurography to interrogate microarchitecture of the nerves involved .
involvement of genitourinary system is rare in neurofibromatosis syndromes with reported prevalence of 0.65% , commonly involving urinary bladder and ureters .
genital involvement in neurofibromatosis is even more infrequently encountered , although reported more commonly in females with clitoromegaly being the most common .
however , sutphen et al . in his study over 236 families of neurofibromatosis-1 concluded that clitoris involvement in neurofibromatosis-1 might be more common than reported .
less than 40 cases of genital neurofibromatosis have been reported till date , with most common involvement of clitoris , labia majora , prepuce , and unilateral labia in that order .
genital involvement in males is commonly related to the involvement of penis and is mostly associated with concomitant genitourinary involvement
. concomitant involvement of external genital system and lumbosacral region is previously only once reported with the involvement of the left half of penis and left lumbosacral plexus in a male patient . to the best of our knowledge ,
the present case is the first to have concomitantly involved external genitalia and lumbosacral plexus in a female patient .
an important aspect of the index case was presence of neurogenic bladder , possibly owing to tumor infiltration of lumbosacral plexus . in the setting of neurofibromatosis , clinical and radiological features of bladder outlet obstruction
have been reported in a few isolated case reports in which urinary retention were either attributed to tumor infiltration of bladder neck and prostatic urethra or due to involvement of nerves supplying the bladder .
the differential consideration of neurofibromatosis as a possible cause of clitoromegaly may help avoid exhaustive and unnecessary investigations .
considering that neurofibromatosis is one of the most common causes when clitoromegaly is caused by tumor infiltration , imaging should always be performed to look for presence of any abnormal mass lesion in the common locations , especially when accompanied by cutaneous lesions .
our case report adds to the scant literature about the association of genital neurofibromatosis causing clitoromegaly , and highlights the crucial role of mri in assessment of both common and unpredictable etiologies leading to ambiguous genitalia .
the present case also describes the utility of mr neurography as a problem solving tool and a useful adjunct to the conventional mri in augmenting the diagnostic confidence in cases of neurofibromatosis .
 genitourinary involvement of neurofibromatosis is uncommon and genital neurofibromatosis is even rarer . 
 involvement of clitoris by neurofibroma can lead to clitoromegaly masquerading as a male penis . 
 we report such a case of ambiguous genitalia in a 7-year - old female child presenting with clitoromegaly since birth , in which magnetic resonance imaging ( mri ) revealed the presence of extensive neurofibromatosis in the clitoris and lumbosacral regions . 
 we emphasize the central role of mri in evaluation of hormonal and non - hormonal causes of ambiguous genitalia . 
 we further discuss the merits of including mr neurography in the imaging protocol for comprehensive delineation of neurofibromatosis . 
Introduction
Case Report
Discussion
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