cryptorchidism , defined as the absence of at least one testis in the scrotum , is a frequent condition in the pediatric population .
it affects up to 9% of full - term newborns and up to 1.5% of 1-year - old boys .
the most common location for an undescended testicle is just outside the external ring ( suprascrotal ) , followed by the inguinal canal followed by the abdomen .
cryptorchidism occurs more commonly among patients with congenital disorders of testosterone secretion or action , secondary hypogonadism , testosterone biosynthetic defects , or insensitivity syndromes , abdominal wall defects , neural tube defects , cerebral palsy , and various genetic syndromes ( e.g. , trisomy 18 , trisomy 13 , noonan syndrome , prader - willi syndrome , and laurence - moon - biedl syndrome ) .
rathke cleft cysts ( rccs ) are benign , epithelium - lined sellar and suprasellar cysts believed to originate from remnants of the rathke pouch lying between the pars anterior and the pars intermedia of the pituitary gland .
they are usually asymptomatic and are discovered incidentally , when radiographic or necropsy findings are reviewed .
symptomatic rccs are uncommon , but cysts can enlarge and cause symptoms secondary to compression of the pituitary gland , pituitary stalk , optic chiasm , or hypothalamus .
atypical presentations for rcc include abscess formation within the cyst , aseptic meningitis or entirely suprasellar rcc .
distinction among these remains a difficult preoperative problem , because the symptoms , signs , and biochemical and radiographic features of these lesions can mimic each other .
here , we report a rare case of entirely suprasellar rathke 's cleft cyst ( rcc ) in a 4.5-year old child causing hypopituitarism , who presented to us with bilateral cryptorchidism .
although till date , a few cases of symptomatic rccs have been reported in world literature , the condition continues to remain largely unknown to practicing clinicians .
the current report intends to draw attention towards hypopituitarism as one of the etiology of cryptorchidism . to the best of our knowledge ,
this is the first case of entirely suprasellar rcc presenting in a child with cryptorchidism to be reported from world literature .
a 4.5-year - old boy presented to the pediatric surgery department with bilateral undescended testes for which surgery was planned . upon evaluation for short stature at the department of endocrinology , he was found to be born to nonconsanguineous parents , at full term by normal vaginal delivery ; there was no history of prolonged labor or birth asphyxia and his birth weight was 2.5 kg .
mother noticed bilateral undescended testes at the time of delivery , but was reassured by the doctor that testes would descend subsequently .
there was no history of seizures or prolonged jaundice in the neonatal period , but his motor and mental milestones were delayed .
he remained shorter than his peers and his sister who is 2 years younger is taller than him .
there was no history of chronic systemic disease , hypothyroidism , or features suggestive of raised intracranial pressure . on examination ,
his height is 84 cm ( <3 percentile ) , upper to lower segment ratio is 0.9 [ figure 1 ] , standard deviation score was 4 , weight was 13 kg , and head circumference was 51 cm .
he had frontal bossing , doll - like facies , central obesity , micropenis with stretched penile length of 2 cm , and both gonads were palpable in suprascrotal area with a poorly developed empty scrotal sac .
investigations revealed a hemoglobin of 13.6 g% ( 11 - 15 ) , total lymphocyte count of 5,600/mm ( 4 - 11,000 ) , erythrocyte sedimentation rate of 15 ( 5 - 20 ) , random blood sugar of 94 mg% ( 90 - 130 ) , creatinine 0.8 mg / dl ( 0.6 - 1.5 ) , free thyroxine ( t4)-0.9 ng / ml ( 0.93 - 1.7 ) , thyroid stimulating hormone ( tsh)-7.27 miu / ml ( 0.3 - 5.5 ) , bone age-1 year , basal cortisol-13.76 g / dl ( 8 - 20 ) , follicle stimulating hormone ( fsh)-0.63 miu / dl ( 1.5 - 10.2 ) , luteinizing hormone ( lh)-0.1 miu / dl ( 1.9 - 12 ) , testosterone basal 0.025 ng / ml ( 3 - 6.5 ) , stimulated testosterone with human chorionic gonadotropin ( hcg ) was 0.68 ng / ml ( suggestive of normally functioning testes ) , and insulin - like growth factor 1 ( igf-1 ) was undetectable .
radiological evaluation revealed bilateral suprascrotal testes in ultrasound abdomen , a 3.8  3.6 cm suprasellar cystic lesion with compressed pituitary gland in magnetic resonance imaging ( mri ) brain [ figures 2 and 3 ] , which was hypointense on t1 and hyperintense on t2 images suggestive of cystic craniopharyngioma or rathke 's cyst .
child did not cooperate for an accurate visual field examination , but grossly he had some degree of visual impairment in left eye .
urine output and fluid input both were approximately 1 l. magnetic resonance imaging ( mri ) sagittal section is showing suprasellar rathke 's cleft cyst ( rcc ) with normal compressed pituitary mri coronal section is showing suprasellar rcc child was subsequently treated with levothyroxine replacement in view of secondary hypothyroidism .
after 4 weeks ( with the normalization of t4 levels ) , he underwent right frontotemporal orbitozygomatic craniotomy , marsupialization of suprasellar cyst along with biopsy .
biopsy revealed a single - cell layered , cuboidal epithelium , suggesting a rathke 's cleft cyst .
so the final diagnosis was rathke 's cleft cyst with hypopituitarism . at 6 and 12
weeks after surgery , child was reevaluated for pituitary function , which revealed persistent secondary hypothyroidism and low igf-1 levels suggestive of growth hormone deficiency .
levothyroxine was reinstituted followed by initiation of growth hormone replacement along with 5 week hcg therapy ( intramuscular ( i m ) 1,000 iu twice a week ) .
rccs are usually located in an intrasellar or combined intra- and suprasellar location , between the pars anterior and the pars intermedia of the pituitary gland ; they are assumed to be benign remnants of the craniopharyngeal duct , which is part of rathke 's pouch .
the pars tuberalis of the pituitary gland which lies above the diaphragma sellae , is also derived from rathke 's pouch , and is the site of origin of entirely suprasellar rccs .
majority of the rcc are asymptomatic . if the normal involution of rathke 's pouch fails to occur , the resulting rcc may increase in size by accumulation of cyst fluid and compress the surrounding structures with ensuing headache , visual problems , and hypopituitarism .
entirely suprasellar symptomatic rccs with normal sella turcica are exceptionally rare and very few case reports are available in world literature .
further , rcc presenting at such a young age with hypopituitarism has not been reported till date .
testicular descent occurs in two phases , comprising of transabdominal and inguinoscrotal descent , which occur approximately during the first and last thirds of gestation , respectively .
key anatomical events to release the testis from its urogenital ridge location and to guide the free gonad into the scrotum are the degeneration of the craniosuspensory ligament and a thickening of the gubernaculum .
androgens play a role in both these processes , particularly with respect to enabling the testis to traverse the inguinal canal in the final phase of descent .
the thickening of the gubernaculum , a process crucial for anchoring the testis to the inguinal region is controlled by insulin - like 3 peptide ( insl3 ) and its g protein coupled receptor ( great ) . in turn , this insl3 is controlled by hcg and lh .
even though surgical management is the cornerstone of treatment for cryptorchidism , medical treatment can be effective in the above mentioned endocrine disorders and it is prudent to give a trial before resorting to orchiopexy .
available agents are gonadotropin releasing hormone ( gnrh ) or hcg injections that produce a significant rise in local testosterone levels ; thereby facilitating testicular descent .
commonly used agent is hcg and there are many protocols for the use of hcg .
one such protocol is the administration of 1,000 - 2,500 iu two times per week intramuscularly for 4 - 5 weeks .
whatever protocol is used , the likelihood of success is greatest in the most distal true undescended testicles .
complete success was defined as full descent of the testicle into the scrotum and needs assessment between 8 weeks and 6 months after the completion of treatment .
these studies have reported temporary virilizing side effects , including increased penile length , erections , and testicular enlargement associated with hormonal treatment .
rcc causing a pressure effect on pituitary with subsequent inhibitory effect on the release of fsh , lh , growth hormone ( gh ) , and tsh led to the hypogonadism ( perhaps , the rcc was causing this pressure effect from the intrauterine period itself and hence resulted in cryptorchidism ) along with hyposomatotropism and hypothyroidism .
we also propose that because of its chronic compressive effect with consequent ischemic and pressure necrosis , all cell lineages were affected irreversibly as evidenced by no recovery of pituitary function in the post - surgical reevaluation .
after hcg therapy , gonads descended into the scrotum and the patient is on long - term follow - up with replacement of levothyroxine and growth hormone .
in conclusion , rccs are usually intrasellar or combined intra- and suprasellar , can rarely occur in an entirely suprasellar location with intact diaphragm and intact sella turcica , but a presentation as in our case , with features of hypopituitarism at such a young age , is distinctly uncommon . in the evaluation of cryptorchidism
one should explore the possibility of central causes in the etiology , as this may respond to medical therapy , thereby obviating the need for unnecessary surgical intervention .
 rathke 's cleft cyst ( rcc ) are benign , epithelium - lined sellar and suprasellar cysts believed to originate from remnants of the rathke pouch . here , we report a rare case of entirely suprasellar rcc in a 4.5-year - old child causing hypopituitarism , who presented to us with bilateral cryptorchidism . subsequently we discuss the distinct rarity of entirely suprasellar rcc presenting in this fashion and the relevant literature is also discussed . 