Septo-Optic Dysplasia

A condition resulting from congenital malformations involving the brain. The syndrome of septo-optic dysplasia combines hypoplasia or agenesis of the SEPTUM PELLUCIDUM; CORPUS CALLOSUM and the OPTIC NERVE. The extent of the abnormalities can vary. Septo-optic dysplasia is often associated with abnormalities of the HYPOTHALAMUS and other diencephalic structures, and HYPOPITUITARISM.

Also Known As:

Networked: 77 relevant articles (0 outcomes, 3 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Pituitary Dwarfism
2.	Optic Nerve Hypoplasia
3.	Hypopituitarism (Sheehan's Syndrome)
4.	Combined Pituitary Hormone Deficiency
5.	Precocious Puberty

Experts

1.	Dattani, Mehul T: 8 articles (12/2020 - 12/2003)
2.	Kelberman, Daniel: 4 articles (12/2009 - 01/2007)
3.	Alatzoglou, Kyriaki S: 3 articles (12/2020 - 02/2011)
4.	Martinez-Barbera, Juan-Pedro: 2 articles (01/2022 - 12/2015)
5.	Gregory, Louise C: 2 articles (12/2020 - 12/2015)
6.	Gaston-Massuet, Carles: 2 articles (12/2015 - 11/2008)
7.	Geffner, Mitchell E: 2 articles (11/2011 - 05/2002)
8.	Dattani, M T: 2 articles (10/2010 - 08/2003)
9.	Krude, Heiko: 2 articles (02/2007 - 03/2002)
10.	Papadimitriou, Anastasios: 2 articles (02/2007 - 04/2003)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Septo-Optic Dysplasia:

1.	Growth Hormone (Somatotropin)IBA 05/01/2002 - "We analyzed data from 65 children with septo-optic dysplasia (SOD) referred for evaluation and followed in the National Cooperative Growth Study (NCGS) Substudy 8 and from 758 children treated with growth hormone (GH) and followed in the NCGS core study. " 12/29/2022 - "Growth hormone deficiency in a case of septo-optic-dysplasia due to SOX2 mutation: should we re-test patients during the transition period?" 10/01/2002 - "Ectopic posterior pituitary lobe often occurs in children with growth hormone deficiency and is part of the spectrum associated with septo-optic dysplasia. " 08/01/1992 - "We report four patients (three male, one female) with septo-optic dysplasia and growth hormone deficiency. " 11/01/1990 - "Growth hormone deficiency of hypothalamic origin in septo-optic dysplasia."
2.	Hormones (Hormone)IBA 01/01/2019 - "Diagnoses in group B were IGHD type 1A, septo-optic dysplasia, and cerebral midline defect with multiple pituitary hormone deficiency. " 01/01/2011 - "There are many genes reported to have been associated with combined pituitary hormone deficiencies, but mutations in HESX1 strongly correlate with septo-optic dysplasia. " 06/01/2010 - "Fifty-seven percent of children had septo-optic dysplasia, and 98% had multiple pituitary hormone deficiencies. " 01/01/2010 - "Molecular analysis of the PROP1 and HESX1 genes in patients with septo-optic dysplasia and/or pituitary hormone deficiency." 01/01/1980 - "He has the symptoms of septo-optic dysplasia, an inborn malformation of the brain with hypoplasia of the optic nerves and tractus opticus, absent septum pellucidum and variable pituitary hormone deficiencies. "
3.	MelatoninIBA 10/01/2010 - "A trial of melatonin treatment in children with septo-optic dysplasia (SOD) and sleep disruption is accepted clinical practice in many centers. " 10/01/2010 - "Rest-activity disturbances in children with septo-optic dysplasia characterized by actigraphy and 24-hour plasma melatonin profiles." 09/01/2001 - "Arrhythmicity in a child with septo-optic dysplasia and establishment of sleep-wake cyclicity with melatonin."
4.	Transcription Factors (Transcription Factor)IBA 02/01/2011 - "Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond." 02/01/2007 - "Mutations in the transcription factor HESX1 have previously been described in association with septooptic dysplasia (SOD) as well as isolated defects of the hypothalamic-pituitary axis. " 12/01/2017 - "In contrast, using CRISPR/Cas9-mediated gene knockouts, we also found that intrinsic hub transcription factors, including the schizophrenia-associated SIX3 gene and septo-optic dysplasia-related HESX1 gene, are required to program hESC neural determination. " 06/01/2011 - "There is a wide variety of phenotypes depending on the transcription factor involved: PROP1 (somatolactotroph, thyrotroph, gonadotroph, and sometimes corticotroph deficiencies ; pituitary hyper- or hypoplasia), POU1F1 (somatolactotroph and thyrotroph deficiencies, pituitary hypoplasia), HESX1 (variable pituitary deficiencies, septo-optic dysplasia), and less frequently LHX3 (somatolactotroph, thyrotroph, and gonadotroph deficiencies, deafness, and limited head and neck rotation), LHX4 (variable pituitary deficiencies, ectopic neurohypophysis, cerebral abnormalities), and OTX2 (variable pituitary deficiencies, ectopic neurohypophysis, ocular abnormalities). " 01/01/2007 - "Mutations in the genes encoding pituitary transcription factors (mainly PROP1, POUF1 and HESX1) are responsible for familial combined pituitary hormone deficiency (CPHD) and septo-optic dysplasia (SOD) while only a low percentage of mutations are the cause of sporadic forms. "
5.	Adrenocorticotropic Hormone (ACTH)FDA Link 07/01/2001 - "Delaying puberty is an option in septo-optic dysplasia, and minimising the dose of hydrocortisone is crucial in treating ACTH/cortisol insufficiency. " 11/01/1990 - "Hypothalamic pituitary function and growth hormone releasing hormone (GHRH) loading tests in two children with septo-optic dysplasia (SOD) revealed isolated GH deficiency in one and deficiencies of growth hormone, adrenocorticotropic hormone and antidiuretic hormone in the other. " 05/01/1978 - "We report five females with septo-optic dysplasia, blindness, and multiple pituitary tropic hormone deficiencies: all were growth hormone and adrenocorticotropic hormone deficient; two had diabetes insipidus; one had sexual precocity, and one had early pubertal maturation, whereas three were prepubertal and responded to administration of synthetic gonadotropin-releasing hormone. " 01/01/2013 - "Additional hormonal deficiencies were found in 35% of patients with structural abnormalities (thyroid-stimulating hormone > adrenocorticotropic hormone > luteinizing hormone/follicle-stimulating hormone > antidiuretic hormone), most frequently in patients with septo-optic dysplasia (SOD). " 07/01/1979 - "Two girls, one with septo-optic dysplasia and the other with posttraumatic brain damage, had the unusual combination of human growth hormone, thyrotropin, adrenocorticotrophic hormone, and vasopressin deficiencies that were associated with sexual precocity in one patient and early sexual maturation in the second patient, and of adult follicle-stimulating hormone and luteinizing hormone concentrations. "
6.	Vasopressins (Vasopressin)IBA 10/28/1978 - "[Septo-optic dysplasia with antidiuretic hormone deficiency and central adrenocortical insufficiency. " 11/01/1990 - "Hypothalamic pituitary function and growth hormone releasing hormone (GHRH) loading tests in two children with septo-optic dysplasia (SOD) revealed isolated GH deficiency in one and deficiencies of growth hormone, adrenocorticotropic hormone and antidiuretic hormone in the other. " 01/01/2013 - "Additional hormonal deficiencies were found in 35% of patients with structural abnormalities (thyroid-stimulating hormone > adrenocorticotropic hormone > luteinizing hormone/follicle-stimulating hormone > antidiuretic hormone), most frequently in patients with septo-optic dysplasia (SOD). " 07/01/1979 - "Two girls, one with septo-optic dysplasia and the other with posttraumatic brain damage, had the unusual combination of human growth hormone, thyrotropin, adrenocorticotrophic hormone, and vasopressin deficiencies that were associated with sexual precocity in one patient and early sexual maturation in the second patient, and of adult follicle-stimulating hormone and luteinizing hormone concentrations. "
7.	Retinaldehyde (Retinal)IBA 09/01/2023 - "To evaluate the functional development and, retinal and optic disc morphology using OCT in patients with septo-optic dysplasia (SOD). " 09/01/2023 - "Patients with septo-optic dysplasia: General ophthalmologic assessment and retinal imaging." 11/01/2011 - "Peripheral retinal nonperfusion in septo-optic dysplasia." 05/01/2011 - "Peripheral retinal nonperfusion in septo-optic dysplasia (de Morsier syndrome)."
8.	Pituitary HormonesIBA 04/01/2009 - "On example of three patients with septo-optic dysplasia the authors present a rare clinical entity involving combined disturbances of endocrine and neurologic systems and variable expressed clinical triad: 1) pituitary aplasia/dysplasia with pituitary hormones deficiency, 2) developmental disturbance of the middle-brain structures (corpus callosum and septum pellucidum), and 3) dysplastic changes of the optic nerve. " 09/01/2010 - "Septo-optic dysplasia is a rare disorder characterized by optic nerve hypoplasia; midline developmental defects including agenesis of the septum pellucidum, thinning or absence of the corpus callosum, or both; and deficiencies of pituitary hormones. " 06/01/1999 - "Mutations of any of the first three genes produce complex disease phenotypes such as septo-optic dysplasia, Treacher Collins Franceschetti syndrome or Rieger syndrome that may include deficiency of one or more pituitary hormones. "
9.	Thyrotropin (Thyroid-Stimulating Hormone)FDA Link 01/01/2013 - "Additional hormonal deficiencies were found in 35% of patients with structural abnormalities (thyroid-stimulating hormone > adrenocorticotropic hormone > luteinizing hormone/follicle-stimulating hormone > antidiuretic hormone), most frequently in patients with septo-optic dysplasia (SOD). " 07/01/1979 - "Two girls, one with septo-optic dysplasia and the other with posttraumatic brain damage, had the unusual combination of human growth hormone, thyrotropin, adrenocorticotrophic hormone, and vasopressin deficiencies that were associated with sexual precocity in one patient and early sexual maturation in the second patient, and of adult follicle-stimulating hormone and luteinizing hormone concentrations. "
10.	Growth Hormone-Releasing Hormone (Somatotropin Releasing Hormone)IBA 09/01/1985 - "This is the first reported case of a patient with septo-optic dysplasia who underwent corticotropin-releasing factor and growth hormone-releasing hormone stimulation." 11/01/1990 - "Hypothalamic pituitary function and growth hormone releasing hormone (GHRH) loading tests in two children with septo-optic dysplasia (SOD) revealed isolated GH deficiency in one and deficiencies of growth hormone, adrenocorticotropic hormone and antidiuretic hormone in the other. "

Therapies and Procedures

1.	Therapeutics 01/01/2011 - "A 2-month-old female infant with septo-optic dysplasia (SOD; on thyroid and maintenance GC replacement therapy at 8 mg/m(2)/day) developed transient DI during 2 separate episodes of stress (one hypothermia, one febrile) when stress dosing of GC (25 mg/m(2)/day) was instituted. " 01/01/2014 - "Acceleration of puberty during growth hormone therapy in a child with septo-optic dysplasia." 06/01/2010 - "Severe hypernatraemia associated with growth hormone replacement therapy in a patient with septo-optic dysplasia." 08/01/1992 - "Septo-optic dysplasia and growth hormone deficiency: accelerated pubertal maturation during GH therapy."
2.	Telescopes 09/09/2014 - "This case description concerns a 26-year-old female patient, suffering from hypopituitarism, hypothyroidism and binocular blindness during the course of septo-optic dysplasia, in whom a giant, left renal AML was diagnosed and treated surgically. "
3.	Colonic Pouches (S Pouch) 01/01/2022 - "Hypothalamic syndrome (HS) is a rare disorder caused by disease-related and/or treatment-related injury to the hypothalamus, most commonly associated with rare, non-cancerous parasellar masses, such as craniopharyngiomas, germ cell tumours, gliomas, cysts of Rathke's pouch and Langerhans cell histiocytosis, as well as with genetic neurodevelopmental syndromes, such as Prader-Willi syndrome and septo-optic dysplasia. "
4.	Radiotherapy 04/01/2007 - "GH deficiency (GHD) associated with central precocious puberty (CPP) has been widely reported in cases of arachnoid cyst, septo-optic dysplasia, brain tumors, or after cerebral radiation therapy. "
5.	Cesarean Section (Caesarean Section) 06/01/2007 - "We report a case of ovarian stimulation in a woman with a Kallmann-De Morsier syndrome, which resulted in a triple pregnancy and childbirth by caesarean section at 36 weeks of amenorrhea of three girls weighing from 1,950 to 2,300 g. "