Extra-Pituitary Birth Defects May Predict Diagnosis of Congenital Hypopituitarism in a Short Child.

摘要: BACKGROUND Extra-pituitary birth defect (EPBD) in children with congenital hypopituitarism is largely unknown. OBJECTIVE The study aims to evaluate the incidence and pattern of EPBD whether it can serve as a clue diagnose this condition. PATIENTS AND METHODS Retrospective analysis hospital record patients short stature due various etiology from which age ≥18 years were recruited for analysis. Clinical, hormonal, radiological ocular electrophysiological studies done all noted. RESULTS Twenty seven (79%) had multiple pituitary hormone deficiency (MPHD) growth was universal followed by gonadotropin (62%), TSH (59%), ACTH (44%) prolactin (12%). Nineteen (56%) combinations. three abnormalities present 12 (35%). Nine (26%) other associated along while 3 without any defect. Skeletal defects 10 (29.5%). On contrary, 5 group total 15 visual defects. most common abnormality system abnormal evoke response (VER, 18%), strabismus (15%), acuity (VA, 12%), electroretinogram (ERG) electrooculogram (EOG) 8% each field 6%. There trend towards early at presentation EPBD. CONCLUSIONS Presence child sensitive marker hypopituitarism. Subtle pathway absent septum pellucidum or midline brain common.