{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T13:17:59Z","timestamp":1793107079389,"version":"4.5.0"},"reference-count":80,"publisher":"Walter de Gruyter GmbH","issue":"9-10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2015,1,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>: Septo-optic dysplasia (SOD) is a rare condition with variable clinical pictures and spectrum of findings.<\/jats:p><jats:p>: To analyze the spectrum of findings, frequency and age of onset of hypothalamic-pituitary dysfunctions in children with SOD.<\/jats:p><jats:p>A retrospective electronic medical record (EMR) chart review was done for patients with SOD seen in a tertiary care center\u2019s pediatric endocrinology clinic between January 1, 2012, and March 31, 2014. The diagnostic criteria for SOD included presence of \u22652 of the following: (i) optic nerve hypoplasia, (ii) agenesis\/hypoplasia of septum pellucidum and\/or corpus callosum and (iii) hypothalamic-pituitary dysfunction.<\/jats:p><jats:p>Eighty patients fitting the diagnostic criteria of SOD were included in this study. The majority of patients (96%) had optic nerve hypoplasia on magnetic resonance imaging and were diagnosed due to visual issues including nystagmus (36%) or strabismus (13.8%). Hypothalamic-pituitary dysfunction was most common (51%) when optic nerve hypoplasia was present with (36%) or without (15%) dysgenesis of septum pellucidum and\/or corpus callosum compared to dysgenesis of septum pellucidum and\/or corpus callosum alone (4%). Hypothalamic-pituitary dysfunction was noted in 55% of patients, and most (86%) were diagnosed \u22642 years of age. Central hypothyroidism and growth hormone deficiency were most common followed by secondary\/tertiary adrenal insufficiency and diabetes insipidus.<\/jats:p><jats:p>: The risk of hypothalamic-pituitary dysfunction in SOD is highest \u22642 years of age and when both optic nerve hypoplasia and dysgenesis of septum pellucidum\/corpus callosum are present, suggesting a need for more frequent follow-up and screening tests for hypothalamic-pituitary dysfunction in these patients.<\/jats:p>","DOI":"10.1515\/jpem-2015-0008","type":"journal-article","created":{"date-parts":[[2015,4,16]],"date-time":"2015-04-16T13:35:05Z","timestamp":1429191305000},"source":"Crossref","is-referenced-by-count":42,"title":["Spectrum of clinical presentations and endocrinological findings of patients with septo-optic dysplasia: a retrospective study"],"prefix":"10.1515","volume":"28","author":[{"given":"Ayse Pinar","family":"Cemeroglu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tarin","family":"Coulas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lora","family":"Kleis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","reference":[{"key":"ref11","first-page":"77","article-title":"Studies on malformation of cranio - encephalic sutures III Agenesis of the septum pellucidum with malformation of the optic tract","author":"De Morsier","year":"1956","journal-title":"Schweiz Arch Neurol Psychiatr"},{"key":"ref721","first-page":"116","article-title":"Mutations within Sox SOX are associated with abnormalities in the hypothalamo - pituitary - gonadal axis in mice and humans","author":"Kelberman","year":"2006","journal-title":"J Clin Invest"},{"key":"ref681","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1515\/JPEM.2005.18.5.471","article-title":"MD Maternal age in patients with septo - optic dysplasia","volume":"18","author":"Murray","year":"2005","journal-title":"J Pediatr Endocrinol"},{"key":"ref121","first-page":"215","article-title":"Muster Arginine and clonidine stimulation tests for growth hormone deficiency revisited - - do we really need so many samples","volume":"22","author":"Zangen","year":"2009","journal-title":"J Pediatr Endocrinol Metab"},{"key":"ref931","doi-asserted-by":"crossref","first-page":"748","DOI":"10.1016\/S0022-3476(78)80142-5","article-title":"Sexual precocity in association with septo - optic dysplasia and hypothalamic hypopituitarism","author":"Huseman","year":"1978","journal-title":"J Pediatr"},{"key":"ref261","first-page":"69","article-title":"MS Hypothesis septo - optic dysplasia is a vascular disruption sequence","author":"Lubinsky","year":"1997","journal-title":"Am J Med Genet"},{"key":"ref61","first-page":"162","article-title":"Elster AB ER Maternal age re septo optic dysplasia","author":"McAnarney","year":"1979","journal-title":"J Pediatr"},{"key":"ref461","first-page":"143","article-title":"SH SH Puberty in the syndrome of septo - optic dysplasia","author":"Hanna","year":"1989","journal-title":"Am J Dis Child"},{"key":"ref381","first-page":"34","article-title":"optic dysplasia complex a heterogeneous malformation syndrome","author":"Polizzi","year":"2006","journal-title":"Pediatr Neurol"},{"key":"ref311","first-page":"189","article-title":"- optic dysplasia in combination with a pigmented skin lesion : a case report with nosological discussion","author":"De Smedt","year":"2000","journal-title":"Eur"},{"key":"ref221","first-page":"1","article-title":"MT - optic dysplasia and other midline defects : the role of transcription factors beyond","volume":"25","author":"McCabe","year":"2011","journal-title":"Pract Res Clin Endocrinol Metab"},{"key":"ref871","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1136\/adc.70.1.51","article-title":"Diabetes insipidus with impaired osmotic regulation in septo - optic dysplasia and agenesis of the corpus callosum","volume":"70","author":"Masera","year":"1994","journal-title":"Arch Dis Child"},{"key":"ref91","first-page":"158","article-title":"dysfunction morbidity and mortality with congenital midline malformation of the cerebrum","author":"Cameron","year":"1999","journal-title":"Pituitary Eur J Pediatr"},{"key":"ref501","first-page":"295","article-title":"optic dysplasia pituitary dwarfism","author":"Hoyt","year":"1970","journal-title":"Lancet"},{"key":"ref771","first-page":"131","article-title":"IM - optic dysplasia with digital anomalies a recurrent pattern syndrome","author":"Harrison","year":"2004","journal-title":"Am J Med Genet"},{"key":"ref431","article-title":"Cerebral midline developmental anomalies neuroradiographic and ophthalmological features","volume":"15","author":"Antonini","year":"2002","journal-title":"endocrine J Pediatr Endocrinol Metab"},{"key":"ref791","first-page":"189","article-title":"- optic dysplasia in combination with a pigmented skin lesion : a case report with nosological discussion","author":"De Smedt","year":"2000","journal-title":"Eur"},{"key":"ref331","first-page":"146","article-title":"new autosomal recessive syndrome of ocular colobomas ichthyosis brain malformations and endocrine abnormalities in an inbred Emirati family","author":"Gazali","year":"2008","journal-title":"Am J Med Genet"},{"key":"ref391","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1136\/adc.70.1.51","article-title":"Diabetes insipidus with impaired osmotic regulation in septo - optic dysplasia and agenesis of the corpus callosum","volume":"70","author":"Masera","year":"1994","journal-title":"Arch Dis Child"},{"key":"ref691","first-page":"78","article-title":"- optic dysplasia : antenatal risk factors and clinical features in a regional study","author":"Atapattu","year":"2012","journal-title":"Horm Res Paediatr"},{"key":"ref321","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1111\/j.1444-0938.2008.00296.x","article-title":"Monocular nystagmus with sectoral optic nerve hypoplasia in a patient with septo - optic dysplasia","author":"Anderson","year":"2009","journal-title":"Clin Exp Optom"},{"key":"ref191","first-page":"167","article-title":"Stirn Refining clinical phenotypes in septo - optic dysplasia based on MRI findings","author":"Riedl","year":"2008","journal-title":"Eur J Pediatr"},{"key":"ref201","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1515\/JPEM.2005.18.5.471","article-title":"MD Maternal age in patients with septo - optic dysplasia","volume":"18","author":"Murray","year":"2005","journal-title":"J Pediatr Endocrinol"},{"key":"ref481","first-page":"61","article-title":"Congenital absence of the septum pellucidum","volume":"69","author":"Reeves","year":"1941"},{"key":"ref621","doi-asserted-by":"crossref","first-page":"325","DOI":"10.4158\/EP11146.OR","article-title":"Similar clinical features among patients with severe adult growth hormone deficiency diagnosed with insulin tolerance test or arginine or glucagon stimulation tests","volume":"18","author":"Toogood","year":"2012","journal-title":"Endocr Pract"},{"key":"ref291","first-page":"131","article-title":"IM - optic dysplasia with digital anomalies a recurrent pattern syndrome","author":"Harrison","year":"2004","journal-title":"Am J Med Genet"},{"key":"ref661","first-page":"95","article-title":"Maternal factors in septo - optic dysplasia","author":"Purdy","year":"1979","journal-title":"J Pediatr"},{"key":"ref651","first-page":"53","article-title":"Children with septo - optic dysplasia how to improve and sharpen the diagnosis","author":"Hellstr\u00f6m","year":"2000","journal-title":"Horm Res"},{"key":"ref671","first-page":"167","article-title":"Stirn Refining clinical phenotypes in septo - optic dysplasia based on MRI findings","author":"Riedl","year":"2008","journal-title":"Eur J Pediatr"},{"key":"ref81","article-title":"Bin AN The syndrome of septo - optic dysplasia in Saudi children","volume":"25","author":"Abbas","year":"2004","journal-title":"Saudi Med J"},{"key":"ref611","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1046\/j.1365-2265.2002.01591.x","article-title":"velocity and - assessment in the diagnosis of childhood onset GH insufficiency : do we still need a second GH stimulation test","author":"Cianfarani","year":"2002","journal-title":"Clin Endocrinol"},{"key":"ref941","first-page":"143","article-title":"SH SH Puberty in the syndrome of septo - optic dysplasia","author":"Hanna","year":"1989","journal-title":"Am J Dis Child"},{"key":"ref361","first-page":"233","article-title":"Syndrome of septo - optic - pituitary dysplasia : the clinical spectrum","volume":"8","author":"Morishima","year":"1986","journal-title":"Brain"},{"key":"ref301","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1038\/ejhg.2009.125","article-title":"MT optic dysplasia","volume":"18","author":"Webb","year":"2010","journal-title":"Eur J Hum Genet"},{"key":"ref641","first-page":"2015","article-title":"Holoprosencephaly a survey of the entity with embryology and fetal imaging","author":"Winter","journal-title":"AM Radiographics"},{"key":"ref451","doi-asserted-by":"crossref","first-page":"748","DOI":"10.1016\/S0022-3476(78)80142-5","article-title":"Sexual precocity in association with septo - optic dysplasia and hypothalamic hypopituitarism","author":"Huseman","year":"1978","journal-title":"J Pediatr"},{"key":"ref801","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1111\/j.1444-0938.2008.00296.x","article-title":"Monocular nystagmus with sectoral optic nerve hypoplasia in a patient with septo - optic dysplasia","author":"Anderson","year":"2009","journal-title":"Clin Exp Optom"},{"key":"ref851","first-page":"148","article-title":"Endocrinological and auxological abnormalities in young children with optic nerve hypoplasia : a prospective study","author":"Ahmad","year":"2006","journal-title":"J Pediatr"},{"key":"ref21","first-page":"295","article-title":"optic dysplasia pituitary dwarfism","author":"Hoyt","year":"1970","journal-title":"Lancet"},{"key":"ref701","first-page":"1","article-title":"MT - optic dysplasia and other midline defects : the role of transcription factors beyond","volume":"25","author":"McCabe","year":"2011","journal-title":"Pract Res Clin Endocrinol Metab"},{"key":"ref171","first-page":"53","article-title":"Children with septo - optic dysplasia how to improve and sharpen the diagnosis","author":"Hellstr\u00f6m","year":"2000","journal-title":"Horm Res"},{"key":"ref231","first-page":"73","article-title":"de SOX plays a critical role in the pituitary forebrain and eye during human embryonic development","author":"Kelberman","year":"2008","journal-title":"J Clin Endocrinol Metab"},{"key":"ref411","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1159\/000245932","article-title":"de Growth without growth hormone and similar dysmorphic features in three patients with sporadic combined pituitary hormone deficiencies","author":"Yablonski","year":"2009","journal-title":"Vries Horm Res"},{"key":"ref31","first-page":"171","article-title":"optic dysplasia MR imaging","author":"Barkovich","year":"1989","journal-title":"Radiology"},{"key":"ref131","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1046\/j.1365-2265.2002.01591.x","article-title":"velocity and - assessment in the diagnosis of childhood onset GH insufficiency : do we still need a second GH stimulation test","author":"Cianfarani","year":"2002","journal-title":"Clin Endocrinol"},{"key":"ref181","first-page":"95","article-title":"Maternal factors in septo - optic dysplasia","author":"Purdy","year":"1979","journal-title":"J Pediatr"},{"key":"ref891","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1159\/000245932","article-title":"de Growth without growth hormone and similar dysmorphic features in three patients with sporadic combined pituitary hormone deficiencies","author":"Yablonski","year":"2009","journal-title":"Vries Horm Res"},{"key":"ref881","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1515\/JPEM.1998.11.1.69","article-title":"CH ME TA Normal growth in a patient with septo - optic dysplasia despite both growth hormone and deficiency","volume":"11","author":"Bereket","year":"1998","journal-title":"J Pediatr Endocrinol Metab"},{"key":"ref151","first-page":"53","article-title":"Comparison of low - dose and high - dose cosyntropin stimulation testing in children","author":"Cemeroglu","year":"2011","journal-title":"Pediatr Int"},{"key":"ref731","first-page":"125","article-title":"CA - optic dysplasia and amniotic bands : further evidence for a vascular pathogenesis","volume":"12","author":"Stevens","year":"2004","journal-title":"Am J Med Genet"},{"key":"ref371","first-page":"148","article-title":"Endocrinological and auxological abnormalities in young children with optic nerve hypoplasia : a prospective study","author":"Ahmad","year":"2006","journal-title":"J Pediatr"},{"key":"ref561","article-title":"Bin AN The syndrome of septo - optic dysplasia in Saudi children","volume":"25","author":"Abbas","year":"2004","journal-title":"Saudi Med J"},{"key":"ref71","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1007\/BF01953934","article-title":"disorders in septo - optic dysplasia syndrome evaluation and follow up of patients","volume":"18","author":"Willnow","year":"1996","journal-title":"Endocrine Eur J Pediatr"},{"key":"ref211","first-page":"78","article-title":"- optic dysplasia : antenatal risk factors and clinical features in a regional study","author":"Atapattu","year":"2012","journal-title":"Horm Res Paediatr"},{"key":"ref711","first-page":"73","article-title":"de SOX plays a critical role in the pituitary forebrain and eye during human embryonic development","author":"Kelberman","year":"2008","journal-title":"J Clin Endocrinol Metab"},{"key":"ref841","first-page":"233","article-title":"Syndrome of septo - optic - pituitary dysplasia : the clinical spectrum","volume":"8","author":"Morishima","year":"1986","journal-title":"Brain"},{"key":"ref141","doi-asserted-by":"crossref","first-page":"325","DOI":"10.4158\/EP11146.OR","article-title":"Similar clinical features among patients with severe adult growth hormone deficiency diagnosed with insulin tolerance test or arginine or glucagon stimulation tests","volume":"18","author":"Toogood","year":"2012","journal-title":"Endocr Pract"},{"key":"ref571","first-page":"158","article-title":"dysfunction morbidity and mortality with congenital midline malformation of the cerebrum","author":"Cameron","year":"1999","journal-title":"Pituitary Eur J Pediatr"},{"key":"ref741","first-page":"69","article-title":"MS Hypothesis septo - optic dysplasia is a vascular disruption sequence","author":"Lubinsky","year":"1997","journal-title":"Am J Med Genet"},{"key":"ref161","first-page":"2015","article-title":"Holoprosencephaly a survey of the entity with embryology and fetal imaging","author":"Winter","journal-title":"AM Radiographics"},{"key":"ref601","first-page":"215","article-title":"Muster Arginine and clonidine stimulation tests for growth hormone deficiency revisited - - do we really need so many samples","volume":"22","author":"Zangen","year":"2009","journal-title":"J Pediatr Endocrinol Metab"},{"key":"ref251","first-page":"125","article-title":"CA - optic dysplasia and amniotic bands : further evidence for a vascular pathogenesis","volume":"12","author":"Stevens","year":"2004","journal-title":"Am J Med Genet"},{"key":"ref341","article-title":"Optic nerve hypoplasia in children : association with anomalies of the endocrine","volume":"102","author":"Skarf","year":"1984","journal-title":"Arch"},{"key":"ref111","doi-asserted-by":"crossref","DOI":"10.1515\/jpem-2013-0162","article-title":"AN Diagnosis of septo - optic dysplasia in a neonate with hypernatremia hypoglycemia and persistent hypothermia","volume":"26","author":"Berger","year":"2013","journal-title":"J Pediatr Endocrinol Metab"},{"key":"ref591","doi-asserted-by":"crossref","DOI":"10.1515\/jpem-2013-0162","article-title":"AN Diagnosis of septo - optic dysplasia in a neonate with hypernatremia hypoglycemia and persistent hypothermia","volume":"26","author":"Berger","year":"2013","journal-title":"J Pediatr Endocrinol Metab"},{"key":"ref581","first-page":"78","article-title":"Optic nerve hypoplasia syndrome a of the epidemiology and clinical associations Treat Options","volume":"15","author":"Garcia","year":"2013","journal-title":"review Curr"},{"key":"ref781","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1038\/ejhg.2009.125","article-title":"MT optic dysplasia","volume":"18","author":"Webb","year":"2010","journal-title":"Eur J Hum Genet"},{"key":"ref541","first-page":"162","article-title":"Elster AB ER Maternal age re septo optic dysplasia","author":"McAnarney","year":"1979","journal-title":"J Pediatr"},{"key":"ref401","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1515\/JPEM.1998.11.1.69","article-title":"CH ME TA Normal growth in a patient with septo - optic dysplasia despite both growth hormone and deficiency","volume":"11","author":"Bereket","year":"1998","journal-title":"J Pediatr Endocrinol Metab"},{"key":"ref101","first-page":"78","article-title":"Optic nerve hypoplasia syndrome a of the epidemiology and clinical associations Treat Options","volume":"15","author":"Garcia","year":"2013","journal-title":"review Curr"},{"key":"ref491","first-page":"77","article-title":"Studies on malformation of cranio - encephalic sutures III Agenesis of the septum pellucidum with malformation of the optic tract","author":"De Morsier","year":"1956","journal-title":"Schweiz Arch Neurol Psychiatr"},{"key":"ref631","first-page":"53","article-title":"Comparison of low - dose and high - dose cosyntropin stimulation testing in children","author":"Cemeroglu","year":"2011","journal-title":"Pediatr Int"},{"key":"ref861","first-page":"34","article-title":"optic dysplasia complex a heterogeneous malformation syndrome","author":"Polizzi","year":"2006","journal-title":"Pediatr Neurol"},{"key":"ref01","first-page":"61","article-title":"Congenital absence of the septum pellucidum","volume":"69","author":"Reeves","year":"1941"},{"key":"ref811","first-page":"146","article-title":"new autosomal recessive syndrome of ocular colobomas ichthyosis brain malformations and endocrine abnormalities in an inbred Emirati family","author":"Gazali","year":"2008","journal-title":"Am J Med Genet"},{"key":"ref241","first-page":"116","article-title":"Mutations within Sox SOX are associated with abnormalities in the hypothalamo - pituitary - gonadal axis in mice and humans","author":"Kelberman","year":"2006","journal-title":"J Clin Invest"},{"key":"ref511","first-page":"171","article-title":"optic dysplasia MR imaging","author":"Barkovich","year":"1989","journal-title":"Radiology"},{"key":"ref551","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1007\/BF01953934","article-title":"disorders in septo - optic dysplasia syndrome evaluation and follow up of patients","volume":"18","author":"Willnow","year":"1996","journal-title":"Endocrine Eur J Pediatr"},{"key":"ref911","article-title":"Cerebral midline developmental anomalies neuroradiographic and ophthalmological features","volume":"15","author":"Antonini","year":"2002","journal-title":"endocrine J Pediatr Endocrinol Metab"},{"key":"ref821","article-title":"Optic nerve hypoplasia in children : association with anomalies of the endocrine","volume":"102","author":"Skarf","year":"1984","journal-title":"Arch"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2015-0008\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,22]],"date-time":"2021-04-22T01:38:54Z","timestamp":1619055534000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2015-0008\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,1,1]]},"references-count":80,"journal-issue":{"issue":"9-10"},"URL":"https:\/\/doi.org\/10.1515\/jpem-2015-0008","relation":{},"ISSN":["2191-0251","0334-018X"],"issn-type":[{"value":"2191-0251","type":"electronic"},{"value":"0334-018X","type":"print"}],"subject":[],"published":{"date-parts":[[2015,1,1]]}}}