SUN-288 Severe Growth Hormone Deficiency in a 13-Year-Old Girl with Congenital Eye Anomalies, Secondary to Transsphenoidal Encephalocele

Background: Transphenoidal encephaloceles are very rare with estimated incidence of 1 in 700,000 live births. They can be associated with pituitary hormonal deficiencies, facial midline defects or eye anomalies. Lack of feeding problems, respiratory difficulties and/or characteristic facies can lead to delayed diagnosis to adolescence or adulthood. Clinical Case: a 13 year old female was referred for evaluation of short stature. She had history of left microophthalmia, congenital coloboma, persistent hyperplastic primary vitreous (PHPV), and subsequent enucleation. She had no other congenital anomalies. She described some discomfort of left eye prosthesis. No headache or nasal symptoms. She maintained height around 2%tile (Z= -2.09) until the age of 6 yrs with subsequent slowing to less than 1%tile (Z= -2.49). She slowed down further (Z= -2.66) over the last year despite showing pubertal changes including breast and pubic hair development. Weight was around 27% tile (Z= - 0.61) until the age of 10 yrs with subsequent acceleration up to 54%tile (Z= 0.10) at time of presentation, despite healthy diet and scheduled physical activities. On physical exam, she was overweight (BMI 91%tile, Z= 1.25), positive left eye prosthesis, no other congenital anomalies, and Tanner stage III breasts/pubic hair. Bone age was normal at 13 years 6 months. IGF-1 level was low for pubertal stage at 183 ng/ml with normal IGFBP-3 of 4.61 mg/l. Other pituitary hormonal studies were completely normal. Peak growth hormone level was only 1.3 ng/ml on Arginine-Glucagon tolerance test. Brain MRI showed considerable deformity of sella turcica with encephalocele extending through the inferior and anterior aspects into the nasopharyngeal region. Pituitary gland was flattened and deformed by the encephalocele. Pituitary stalk was partially visualized, with inferior coursing of optic chiasm and optic nerves. Conclusions: Pituitary hormonal deficiencies including growth hormone have been described rarely in association with transphenoidal encephaloceles and congenital eye anomalies, typically “morning glory” anomaly of optic disc. Transphenoidal encephalocele and subsequent pituitary dysfunction should be considered early when a child with any eye congenital anomaly presents with short stature/growth failure, even without other midline/facial abnormalities or symptoms.