MON-060 - Missed Diagnosis of Congenital Panhypopituitarism and Septo-Optic Dysplasia Until 3Rd Decade of Life

Background: Septo-optic dysplasia (SOD) is a rare congenital malformation seen in 1 of 10,000 births involving optic nerve hypoplasia, hypothalamic/pituitary dysfunction, and midline brain defects. Abnormalities of the hypothalamic–pituitary axis due to SOD can cause congenital hypopituitarism, which is marked by deficient anterior pituitary hormones, with or without diabetes insipidus. Newborns with SOD can have hypoglycemic seizures, apnea, hypotonia, or prolonged jaundice. Diagnosis of SOD is mainly in childhood and requires hormonal evaluation and high-resolution MRI to identify neurologic structural defects. We report a rare case of undiagnosed panhypopituitarism from SOD and delayed sufficient treatments until adulthood. Clinical

Case: A 33-year-old female presented to adult endocrinology clinic for evaluation of primary amenorrhea. She had a history of right eye congenital vision loss, Hashimoto’s Thyroiditis hypothyroidism diagnosed as a child, and recent onset of seizures. Her mother reported the patient's prior diagnosis and treatment of growth hormone deficiency by pediatric endocrinology at age 15, but denied diagnosis of adrenal insufficiency, or pituitary masses or defects. On initial presentation, the patient appeared sluggish, her mother provided full HPI of no prior menses (even with a 2-year treatment of OCP and hCG in the past), and absent secondary sexual characteristic development. Comprehensive work up performed showed hypogonadotropic hypogonadism, central hypothyroidism, growth hormone deficiency and adrenal insufficiency. MRI Brain revealed hypoplastic anterior half of corpus callosum and abnormal foreshortened genu, concerning for SOD. Pelvic US showed hypoplastic uterus with no identified ovaries. She was diagnosed with panhypopituitarism due to SOD. She was continued on levothyroxine, and started on hydrocortisone and OCP treatment. At subsequent follow-up visits, the patient appeared lively with active engagement in the visit, reporting breakthrough bleeding. She was scheduled for inpatient seizure evaluation for pseudoseizures that may have been misdiagnosed in the setting of her hypopituitarism.

Conclusion: Patients with multiple endocrinopathies and visual deficit as a child and teen should be evaluated for congenital hypopituitarism with a comprehensive work up including labs and brain imaging. Identifying and promptly replacing deficient hormones is crucial for growth, reproductive organ development, daily function, and preventing fatality from adrenal crisis. While our patient with delayed diagnosis of panhypopituitarism of SOD had no adrenal crisis, she survived to age 33 with severe adrenal insufficiency of markedly low cortisol levels. Delayed cortisol replacement affected her daily functioning with poor performance at school and work and may have led to misdiagnosis and unnecessary treatment of seizures.

*Unless otherwise noted, all abstracts presented at ENDO must not be released to the press or the public until the date and time of presentation. For oral presentations, the abstracts are embargoed until the session begins. The Endocrine Society reserves the right to lift the embargo on specific abstracts that are selected for promotion prior to or during ENDO.*