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Title: Extra-Pituitary Birth Defects May Predict Diagnosis of Congenital Hypopituitarism in a Short Child. Author: Dutta P, Gupta P, Singh P, Modi M, Srinivasan A, Mukherjee S, Rai A, Saini H, Sukhija JS, Bansal R, Bhansali A, Mukherjee KK. Journal: J Assoc Physicians India; 2015 Aug; 63(8):28-36. PubMed ID: 27604433. Abstract: 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 in children with congenital hypopituitarism and to evaluate whether it can serve as a clue to diagnose this condition. PATIENTS AND METHODS: Retrospective analysis of hospital record of patients of short stature due to various etiology from which patients with congenital hypopituitarism with age ≥18 years were recruited for the analysis. Clinical, hormonal, radiological and ocular electrophysiological studies were done in all patients and all EPBD were noted. RESULTS: Twenty seven patients (79%) had multiple pituitary hormone deficiency (MPHD) of which growth hormone was universal followed by gonadotropin (62%), TSH (59%), ACTH (44%) and prolactin (12%). Nineteen patients (56%) had multiple EPBD in various combinations. Twenty three ocular abnormalities were present in 12 patients (35%). Nine patients (26%) had other associated EPBD along with ocular abnormalities while 3 had ocular abnormalities without any other associated birth defect. Skeletal defects were present in 10 patients (29.5%). On the contrary, 5 patients in the EPBD group had total 15 visual defects. The most common abnormality of the visual system were abnormal visual evoke response (VER, 18%), followed by strabismus (15%), visual acuity (VA, 12%), electroretinogram (ERG) and electrooculogram (EOG) 8% each and visual field defect 6%. There was a trend towards early age at presentation with EPBD. CONCLUSIONS: Presence of EPBD in a short child is a sensitive marker to diagnose congenital hypopituitarism. Subtle abnormalities of visual pathway without absent septum pellucidum or midline brain defects were common.[Abstract] [Full Text] [Related] [New Search]