Endocrine Status in Patients with Optic Nerve Hypoplasia: Relationship to Midline Central Nervous System Abnormalities and Appearance of the Hypothalamic-Pituitary Axis on Magnetic Resonance Imaging

Journal of Clinical Endocrinology and Metabolism

Volumn 88, Issue 11, 2003, Pages 5281-5286

  Birkebaek N H ^a,b   Patel, L ^b,e   Wright, N B ^c   Grigg, J R ^d   Sinha, S ^b   Hall, C M ^b   Price, D A ^b   Lloyd, I C ^d   Clayton, P E ^b  

^a AARHUS UNIVERSITY HOSPITAL   (Denmark)

^b Central Manchester   (United Kingdom)

^c ALDER HEY CHILDREN S HOSPITAL   (United Kingdom)

^d Manchester Children's Univ H   (United Kingdom)

^e BOOTH HALL CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

HYPOPHYSIS HORMONE;

ADENOHYPOPHYSIS; CENTRAL NERVOUS SYSTEM DISEASE; CHILD; CONTROLLED STUDY; ENDOCRINE DISEASE; ENDOCRINE FUNCTION; FEMALE; HEALTH STATUS; HORMONE DEFICIENCY; HUMAN; HYPOTHALAMUS HYPOPHYSIS ADRENAL SYSTEM; INFANT; INFUNDIBULUM; MAJOR CLINICAL STUDY; MALE; NEUROHYPOPHYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIC NERVE HYPOPLASIA; PHENOTYPE; PRECOCIOUS PUBERTY; PRIORITY JOURNAL; REVIEW; SEPTUM PELLUCIDUM;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; HYPOTHALAMO-HYPOPHYSEAL SYSTEM; INFANT; MAGNETIC RESONANCE IMAGING; MALE; OPTIC NERVE; PITUITARY DISEASES; PITUITARY GLAND; PREDICTIVE VALUE OF TESTS; RISK FACTORS; SEPTUM PELLUCIDUM;

EID: 0345305655     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2003-030527     Document Type: Review

References (30)

1. Acers TE 1981 Optic nerve hypoplasia: septo-optic-pituitary dysplasia syndrome. Trans Am Ophthalmol Soc 79:425-457
2. Arslanian SA, Rothfus WE, Foley Jr TP, Becker DJ 1984 Hormonal, metabolic, and neuroradiologic abnormalities associated with septo-optic dysplasia. Acta Endocrinol (Copenh) 107:282-288
3. Brodsky MC, Glasier CM 1993 Optic nerve hypoplasia. Clinical significance of associated central nervous system abnormalities on magnetic resonance imaging. Arch Ophthalmol 111:66-74
4. De Morsier G 1956 Etudes sur les dysraphies cranio-encephaligues, III: agenesie du septum lucidum avec malformation du tractus optique. La dysplasie septo-optique. Schweiz Arch Neurol Neurochir Psychiatr 77:267-292
5. Hoyt WF, Kaplan SL, Grumbach MM, Glaser JS 1970 Septo-optic dysplasia and pituitary dwarfism. Lancet 1:893-894
6. Siatkowski RM, Sanchez JC, Andrade R, Alvarez A 1997 The clinical, neuroradiographic, and endocrinologic profile of patients with bilateral optic nerve hypoplasia. Ophthalmology 104:493-496
7. Stanhope R, Preece MA, Brook CGD 1984 Hypoplastic optic nerves and pituitary dysfunction. Arch Dis Child 59:111-114
8. Zeki SM, Hollman AS, Dutton GN 1992 Neuroradiological features of patients with optic nerve hypoplasia. J Pediatr Ophthalmol Strabismus 29:107-112
9. Brodsky M, Conte FA, Taylor D, Hoyt CS, Mrak RE 1997 Sudden death in septo-optic dysplasia. Arch Ophthalmol 115:66-70
10. Cameron FJ, Khadikar VV, Stanhope R 1999 Pituitary dysfunction, morbidity and mortality with congenital midline malformation of the cerebrum. Eur J Pediatr 158:97-102
11. Gilbert JD, Scott G, Boyard RW 2001 Septo-optic dysplasia and unexpected adult death-autopsy approach. J Forensic Sci 46:913-915
12. Traggiai C, Stanhope R 2002 Endocrinopathies associated with midline cerebral and cranial malformations. J Pediatr 140:252-255
13. Hellström A, Wiklund LM, Svensson E, Albertsson-Wiklund K, Strömland K 1999 Optic nerve hypoplasia with isolated tortuosity of the retinal veins. Arch Ophthalmol 117:880-884
14. Huseman CA, Kelch RP, Hopwood NJ, Zipf WB 1978 Sexual precocity in association with septo-optic dysplasia and hypothalamic hypopituitarism. J Pediatr 92:748-753
15. Hellström A, Wiklund LM, Svensson E 1999 The clinical and morphological spectrum of optic nerve hypoplasia. J AAPOS 3:212-220
16. Philips PH, Spear C, Brodsky MC 2001 Magnetic resonance diagnosis of congenital hypopituitarism in children with optic nerve hypoplasia. J AAPOS 5:275-280
17. Tillmann V, Tang VWM, Price DA, Hughes DG, Wright NB, Clayton PE 2000 Magnetic resonance imaging of the hypothalamic-pituitary axis in the diagnosis of growth hormone deficiency. J Pediatr Endocrinol Metab 13:1577-1583
18. Argyropoulou M, Perignon F, Brunelle F, Brauner R, Rappaport R 1991 Height of normal pituitary as a function of age evaluated by magnetic resonance imaging in children. Pediatr Radiol 21:247-249
19. Costin G, Murphree AL 1985 Hypothalamic-pituitary function in children with optic nerve hypoplasia. Am J Dis Child 139:249-254
20. Sorkin JA, Davis PC, Meacham LR, Parks JS, Drack AV, Lambert SR 1996 Optic nerve hypoplasia: absence of posterior pituitary bright signal on magnetic resonance imaging correlates with diabetes insipidus. Am J Ophthalmol 122:717-723
21. Kelly WM, Kucharczyk W, Kucharczyk J, Kjos B, Peck WW, Norman D, Newton TH 1988 Posterior pituitary ectopia: an MR feature of pituitary dwarfism. Am J Neuroradiol 9:453-460
22. Abernethy LJ, Qunibi MA, Smith CS 1997 Normal MR appearances of the posterior pituitary in central diabetes insipidus associated with septo-optic dysplasia. Pediatr Radiol 27:45-47
23. Masera N, Grant DB, Stanhope R, Preece MA 1994 Diabetes insipidus with impaired osmotic regulation in septo-optic dysplasia and agenesis of the corpus callosum. Arch Dis Child 70:51-53
24. Nanduri VR, Stanhope R 1999 Why is the retention of gonadotrophin secretion common in children with panhypopituitarism due to septo-optic dysplasia. Eur J Endocrinol 140:48-50
25. Roessmann U, Velasco MI, Small EJ, Hori A 1987 Neuropathology of "septooptic dysplasia" (de Morsier syndrome) with immunohistochemical studies of the hypothalamus and pituitary gland. J Neuropathol Exp Neurol 46:597-608
26. Hellström A, Aronsson M, Axelson C, Kyllerman M, Kopp S, Steffenburg S, Stromland K, Westphal O, Wiklund L, Albertsson-Wikland K 2000 Children with septo-optic dysplasia - how to improve and sharpen the diagnosis. Horm Res 53:19-25
27. Hellstrom A 1999 Optic nerve morphology may reveal adverse events during prenatal and perinatal life - digital image analysis. Surv Ophthalmol 44(Suppl 1):S63-S73
28. Coulter CL, Leech RW, Schaefer BB, Scheithauer BW, Brumback RA 1993 Midline cerebral dysgenesis, dysfunction of the hypothalamic-pituitary axis, and fetal alcohol effects. Arch Neurol 50:771-775
29. Stromland K, Pinazo-Duran MD 2002 Ophthalmic involvement in the fetal alcohol syndrome:clinical and animal model studies. Alcohol Alcohol 37:2-8
30. Tornqvist K, Ericsson A, Källén B 2002 Optic nerve hypoplasia: risk factors and epidemiology. Acta Ophthalmol Scand 80:300-304