Extra-Pituitary Birth Defects May Predict Diagnosis of Congenital Hypopituitarism in a Short Child.
Extra-pituitary birth defect (EPBD) in children with congenital hypopituitarism is largely unknown.



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.



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.



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.



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.
Department of Endocrinology.
Pinaki
P
Dutta
Department of Neurosurgery.
Prakamya
P
Gupta
Department of Radiodiagnosis.
Paramjeet
P
Singh
Department of Neurology.
Manish
M
Modi
Department of Pharmacology.
Anand
A
Srinivasan
Department of Endocrinology.
Soham
S
Mukherjee
Department of Neurosurgery.
Ashutosh
A
Rai
Department of Neurosurgery.
Himani
H
Saini
Department of Opthalmology.
Jaspreet Singh
JS
Sukhija
Department of Opthalmology.
Reema
R
Bansal
Department of Endocrinology.
Anil
A
Bhansali
Department of Neurosurgery, Post Graduate Institute of Medical Education and Research, Chandigarh.
Kanchan Kumar
KK
Mukherjee
D000328:Adult; D001720:Birth Injuries / Q000150:complications / Q000453:epidemiology; D004392:Dwarfism / Q000175:diagnosis / Q000453:epidemiology; D005124:Eye Abnormalities / Q000175:diagnosis; D005260:Female; D013006:Growth Hormone / Q000032:analysis; D006801:Humans; D007018:Hypopituitarism / Q000151:congenital / Q000175:diagnosis / Q000453:epidemiology / Q000209:etiology; D007194:India / Q000453:epidemiology; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D010902:Pituitary Gland / Q000000981:diagnostic imaging*; D010907:Pituitary Hormones / Q000032:analysis / Q000172:deficiency; D012189:Retrospective Studies; D012658:Sella Turcica / Q000000981:diagnostic imaging*; D025962:Septo-Optic Dysplasia / Q000175:diagnosis / Q000453:epidemiology; D013223:Statistics as Topic; D014057:Tomography, X-Ray Computed / Q000379:methods
D010907:Pituitary Hormones; D013006:Growth Hormone