{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,4]],"date-time":"2026-07-04T06:59:18Z","timestamp":1783148358264,"version":"3.54.6"},"reference-count":30,"publisher":"The Endocrine Society","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2003,11,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We here: 1) describe the phenotypic spectrum, including magnetic resonance imaging (MRI) appearances of the pituitary stalk and anterior and posterior pituitary [H-P (hypothalamic-pituitary) axis], in children with optic nerve hypoplasia (ONH) with or without an abnormal septum pellucidum (SP); and 2) define endocrine dysfunction according to the MRI findings. Medical records of 55 children with ONH who had been assessed by ophthalmology and endocrine services were reviewed. All had MRI of the brain and H-P axis.<\/jats:p><jats:p>Forty-nine percent of the ONH patients had an abnormal SP on MRI, and 64% had a H-P axis abnormality. Twenty-seven patients (49%) had endocrine dysfunction, and 23 of these had H-P axis abnormality. The frequency of endocrinopathy was higher in patients with an abnormal SP (56%) than a normal SP (39%). Patients were divided into four groups based on SP and H-P axis appearance: 1) both normal; 2) abnormal SP and normal H-P axis; 3) normal SP and abnormal H-P axis; and 4) both abnormal. The frequency of multiple pituitary hormone deficiency was highest (56%) in group 4, lower (35%) in group 3, and even lower (22%) in group 2. Precocious puberty was most common in group 2. None of the patients in group 1 had endocrine dysfunction. Thus, SP and H-P axis appearances on MRI can be used to predict the likely spectrum of endocrinopathy.<\/jats:p>","DOI":"10.1210\/jc.2003-030527","type":"journal-article","created":{"date-parts":[[2003,11,6]],"date-time":"2003-11-06T13:11:05Z","timestamp":1068124265000},"page":"5281-5286","source":"Crossref","is-referenced-by-count":92,"title":["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"],"prefix":"10.1210","volume":"88","author":[{"given":"N. H.","family":"Birkeb\u00e6k","sequence":"first","affiliation":[{"name":"Department of Paediatrics (N.H.B.), Aarhus University Hospital at Skejby, Denmark DK-8200;"},{"name":"Department of Paediatric Endocrinology (N.H.B., L.P., S.S., C.M.H., D.A.P., P.E.C.), Central Manchester and Manchester Children\u2019s University Hospitals, Manchester, United Kingdom M27 1HA;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Patel","sequence":"additional","affiliation":[{"name":"Department of Paediatric Endocrinology (N.H.B., L.P., S.S., C.M.H., D.A.P., P.E.C.), Central Manchester and Manchester Children\u2019s University Hospitals, Manchester, United Kingdom M27 1HA;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N. B.","family":"Wright","sequence":"additional","affiliation":[{"name":"Department of Paediatric Radiology (N.B.W.), Alder Hey Children\u2019s Hospital, Liverpool, United Kingdom L12 2AP;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. R.","family":"Grigg","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology (J.R.G., I.C.L.), Central Manchester and Manchester Children\u2019s University Hospitals, Manchester, United Kingdom M13 0JH"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Sinha","sequence":"additional","affiliation":[{"name":"Department of Paediatric Endocrinology (N.H.B., L.P., S.S., C.M.H., D.A.P., P.E.C.), Central Manchester and Manchester Children\u2019s University Hospitals, Manchester, United Kingdom M27 1HA;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C. M.","family":"Hall","sequence":"additional","affiliation":[{"name":"Department of Paediatric Endocrinology (N.H.B., L.P., S.S., C.M.H., D.A.P., P.E.C.), Central Manchester and Manchester Children\u2019s University Hospitals, Manchester, United Kingdom M27 1HA;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. A.","family":"Price","sequence":"additional","affiliation":[{"name":"Department of Paediatric Endocrinology (N.H.B., L.P., S.S., C.M.H., D.A.P., P.E.C.), Central Manchester and Manchester Children\u2019s University Hospitals, Manchester, United Kingdom M27 1HA;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I. C.","family":"Lloyd","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology (J.R.G., I.C.L.), Central Manchester and Manchester Children\u2019s University Hospitals, Manchester, United Kingdom M13 0JH"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P. E.","family":"Clayton","sequence":"additional","affiliation":[{"name":"Department of Paediatric Endocrinology (N.H.B., L.P., S.S., C.M.H., D.A.P., P.E.C.), Central Manchester and Manchester Children\u2019s University Hospitals, Manchester, United Kingdom M27 1HA;"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","reference":[{"key":"2020071613350282500_R1","first-page":"425","article-title":"Optic nerve hypoplasia: septo-optic-pituitary dysplasia syndrome.","volume":"79","author":"Acers","year":"1981","journal-title":"Trans Am Ophthalmol Soc"},{"key":"2020071613350282500_R2","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1530\/acta.0.1070282","article-title":"Hormonal, metabolic, and neuroradiologic abnormalities associated with septo-optic dysplasia.","volume":"107","author":"Arslanian","year":"1984","journal-title":"Acta Endocrinol (Copenh)"},{"key":"2020071613350282500_R3","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1001\/archopht.1993.01090010070029","article-title":"Optic nerve hypoplasia. 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