An interesting case of Rathke's cleft cyst presenting as bilateral cryptorchidism
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 (<3rd percentile), upper to lower segment ratio is 0.9 [], 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. His vitals and systemic examination were normal.\nInvestigations revealed a hemoglobin of 13.6 g% (11-15), total lymphocyte count of 5,600/mm3 (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 μg/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 and ], 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.\nChild 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. His intra- and postoperative period was uneventful. 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 (IM) 1,000 IU twice a week). This enabled gonadal descent into the scrotum 3 months after the completion of therapy.