ESPE Abstracts

Background: Septo-optic dysplasia (SOD) is characterized by two or more features of the triad: optic nerve (ON) hypoplasia, middle brain defects and pituitaty deficiencies. Pituitary Stalk Interruption Syndrome (PSIS) presents as a lack of a visible pituitary stalk and/ or no eutopic posterior lobe hypersignal in the shallow sella turcica. Both conditions usually result in hypopituitarism. The diagnosis is based on clinical signs and MRI findings; only small number of patients have molecular diagnosis. We describe a patient with SOD and PSIS symptoms’ co-existence.

Presentation: The girl was born at term from non-consanguineous parents. Prolonged neonatal jaundice; congenital nistagmus were seen. Neonatal brain US described the ON hypoplasia and septum pellucidum cyst. The early history was remarkable for hypoglycemia, febrile seazures with anticonvulsants taking. The patient was followed by ophthalmologist, neurologist. Her first visit to paediatric endocrinologist was at the age of 6 5/12 for weight excess, tall stature, the history of hypoglycemia. Her height and weight were more +3SDS. An elevated TSH, low FT4; cortisol and ACTH in low reference were detected. The hypopituitarism was suspected; the family was called urgently for treatment. However, the patient escaped from the follow-up and arrived to our Center after 4 years. At the age 10 5/12 she was tall, obese, taking 37,5 mg of L-T4 (Previous dose of 50 mg was reduced due to low TSH; from mother’s note, the child became more active after that). The girl assisted specialized school for children with eyes disabilities. The lab demonstrated low cortisol and ACTH; with hydrocortisone prescription and L-T4 dose adjustment. Pituitary MRI found small anterior pituitary, thin pituitary stalk, the absence of septum pellucidum, ON and chiasma hypoplasia; the hyperintensive focus in the third ventricle which may present an ectopic posterior pituitary. After she reached 10y., her GV decreased, low IGF-1 level was found. She entered spontaneous puberty but sex steroid replacement was needed after age of 15. At 15 6/12 due to excessive weight gain, muscle weakness GH in metabolic dose was given with patient improvement. Currently she is under HRT in transition to adult endocrinologist in our Center; no adrenal crises known.

Conclusion: Our case demonstrated late diagnosis of hypopituitarism in a child with simultaneous features of SOD and PSIS. Making diagnosis early in life should be a great challenge as patients with hypopituitarism require life-long follow-up due to evolution of pituitary deficiencies and risk of endocrine emergencies.