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Spectrum of clinical presentations and endocrinological findings of patients with septo-optic dysplasia: a retrospective study

  • Ayse Pinar Cemeroglu EMAIL logo , Tarin Coulas and Lora Kleis
Published/Copyright: April 16, 2015
Journal of Pediatric Endocrinology and Metabolism
From the journal Journal of Pediatric Endocrinology and Metabolism Volume 28 Issue 9-10

Abstract

Background: Septo-optic dysplasia (SOD) is a rare condition with variable clinical pictures and spectrum of findings.

Objective: To analyze the spectrum of findings, frequency and age of onset of hypothalamic-pituitary dysfunctions in children with SOD.

Method: A retrospective electronic medical record (EMR) chart review was done for patients with SOD seen in a tertiary care center’s pediatric endocrinology clinic between January 1, 2012, and March 31, 2014. The diagnostic criteria for SOD included presence of ≥2 of the following: (i) optic nerve hypoplasia, (ii) agenesis/hypoplasia of septum pellucidum and/or corpus callosum and (iii) hypothalamic-pituitary dysfunction.

Results: 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 ≤2 years of age. Central hypothyroidism and growth hormone deficiency were most common followed by secondary/tertiary adrenal insufficiency and diabetes insipidus.

Conclusions: The risk of hypothalamic-pituitary dysfunction in SOD is highest ≤2 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.

Keywords: hypothalamic-pituitary dysfunction; optic nerve hypoplasia; septo-optic dysplasia
Corresponding author: Ayse Pinar Cemeroglu, MD, Pediatric Endocrinologist, Associate Professor of Pediatrics, Michigan State University, MI, USA; and Pediatric Endocrinology, Spectrum Health Medical Group, Helen DeVos Children’s Hospital, Grand Rapids, MI, USA, Phone: +616-391-3933, Fax: +616-391-6240, E-mail:

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Received: 2015-1-8
Accepted: 2015-2-19
Published Online: 2015-4-16
Published in Print: 2015-9-1

©2015 by De Gruyter

Articles in the same Issue

  1. Frontmatter
  2. Highlight: Growth hormone
  3. Growth hormone and growth hormone deficiency – still a lot to learn
  4. Dynamic changes in the hypothalamic- pituitary-adrenal axis during growth hormone therapy in children with growth hormone deficiency: a multicenter retrospective study
  5. Pituitary gland size is a useful marker in diagnosing isolated growth hormone deficiency in short children
  6. Carotid intima-media thickness in children treated with growth hormone
  7. The c.301_302delAG PROP1 gene mutation in Romanian patients with multiple pituitary hormone deficiency
  8. Growth impairment and growth hormone-IGF-1 axis in infantile anorexia nervosa
  9. Growth hormone deficiency in a patient with mitochondrial disease
  10. Perrault syndrome with growth hormone deficiency: a rare autosomal recessive disorder
  11. Review articles
  12. Phosphate homeostasis and genetic mutations of familial hypophosphatemic rickets
  13. Gonadal malignancy risk and prophylactic gonadectomy in disorders of sexual development
  14. Original articles
  15. Carotid intimal medial thickness and its relation to endothelial dysfunction and echocardiographic changes in adolescents with type 1 diabetes
  16. Insulin dynamics and biochemical markers for predicting impaired glucose tolerance in obese Thai youth
  17. Effects of adolescence-onset hypogonadism on metabolism, bone mineral density and quality of life in adulthood
  18. Spectrum of clinical presentations and endocrinological findings of patients with septo-optic dysplasia: a retrospective study
  19. Role of circulating adipocytokines vaspin, apelin, and visfatin in the loss of appetite in underweight children: a pilot trial
  20. Protein-induced hyperinsulinaemic hypoglycaemia due to a homozygous HADH mutation in three siblings of a Saudi family
  21. Waist-to-height ratio as a screening measure for identifying adolescents with hypertriglyceridemic waist phenotype
  22. Assessment and relation of total and regional fat mass with bone mineral content among Indian urban adolescents
  23. Evaluation of the relationship between serum adropin levels and blood pressure in obese children
  24. Swallowed glucocorticoid therapy for eosinophilic esophagitis in children does not suppress adrenal function
  25. Response of vitamin D binding protein and free vitamin D concentrations to vitamin D supplementation in hospitalized premature infants
  26. Can school health check-ups serve as screening tool for growth anomalies and obesity in children?
  27. The spectrum of 46XY disorders of sex development in a University centre in Saudi Arabia
  28. Clinical and molecular characterization of five Spanish kindreds with X-linked adrenal hypoplasia congenita: atypical findings and a novel mutation in NR0B1
  29. Clinical characteristics of children referred for signs of early puberty before age 3
  30. Effects of GnRH analogue treatment on anterior pituitary hormones in children with central precocious puberty
  31. Anti-Müllerian hormone in children: a ten-year prospective longitudinal study (EarlyBird 39)
  32. Patient reports
  33. A rare cause of fatal pulmonary alveolar proteinosis: Niemann-Pick disease type C2 and a novel mutation
  34. Migratory polyarthritis as an adverse effect of thiamazole use in a 13-year-old girl with Graves’ disease
  35. Dyshormonogenesis seems to be more frequent in a group of Cameroonian children with congenital hypothyroidism
  36. Primary systemic carnitine deficiency: a Turkish case with a novel homozygous SLC22A5 mutation and 14 years follow-up
  37. Cerebral infarction and femoral venous thrombosis detected in a patient with diabetic ketoacidosis and heterozygous factor V Leiden G1691A and PAI-1 4G/5G mutations
  38. Combined adrenal failure and testicular adrenal rest tumor in a patient with nicotinamide nucleotide transhydrogenase deficiency
  39. Short communication
  40. Tamoxifen-associated hirsutism: an unusual side effect in a 5-year-old girl with McCune-Albright syndrome
  41. Letters to the Editor
  42. Psychiatric disorders are associated with increased risk for developing hyponatraemia in children
  43. Rett syndrome and precocious puberty association
https://doi.org/10.1515/jpem-2015-0008
Keywords for this article
hypothalamic-pituitary dysfunction; optic nerve hypoplasia; septo-optic dysplasia

Articles in the same Issue

  1. Frontmatter
  2. Highlight: Growth hormone
  3. Growth hormone and growth hormone deficiency – still a lot to learn
  4. Dynamic changes in the hypothalamic- pituitary-adrenal axis during growth hormone therapy in children with growth hormone deficiency: a multicenter retrospective study
  5. Pituitary gland size is a useful marker in diagnosing isolated growth hormone deficiency in short children
  6. Carotid intima-media thickness in children treated with growth hormone
  7. The c.301_302delAG PROP1 gene mutation in Romanian patients with multiple pituitary hormone deficiency
  8. Growth impairment and growth hormone-IGF-1 axis in infantile anorexia nervosa
  9. Growth hormone deficiency in a patient with mitochondrial disease
  10. Perrault syndrome with growth hormone deficiency: a rare autosomal recessive disorder
  11. Review articles
  12. Phosphate homeostasis and genetic mutations of familial hypophosphatemic rickets
  13. Gonadal malignancy risk and prophylactic gonadectomy in disorders of sexual development
  14. Original articles
  15. Carotid intimal medial thickness and its relation to endothelial dysfunction and echocardiographic changes in adolescents with type 1 diabetes
  16. Insulin dynamics and biochemical markers for predicting impaired glucose tolerance in obese Thai youth
  17. Effects of adolescence-onset hypogonadism on metabolism, bone mineral density and quality of life in adulthood
  18. Spectrum of clinical presentations and endocrinological findings of patients with septo-optic dysplasia: a retrospective study
  19. Role of circulating adipocytokines vaspin, apelin, and visfatin in the loss of appetite in underweight children: a pilot trial
  20. Protein-induced hyperinsulinaemic hypoglycaemia due to a homozygous HADH mutation in three siblings of a Saudi family
  21. Waist-to-height ratio as a screening measure for identifying adolescents with hypertriglyceridemic waist phenotype
  22. Assessment and relation of total and regional fat mass with bone mineral content among Indian urban adolescents
  23. Evaluation of the relationship between serum adropin levels and blood pressure in obese children
  24. Swallowed glucocorticoid therapy for eosinophilic esophagitis in children does not suppress adrenal function
  25. Response of vitamin D binding protein and free vitamin D concentrations to vitamin D supplementation in hospitalized premature infants
  26. Can school health check-ups serve as screening tool for growth anomalies and obesity in children?
  27. The spectrum of 46XY disorders of sex development in a University centre in Saudi Arabia
  28. Clinical and molecular characterization of five Spanish kindreds with X-linked adrenal hypoplasia congenita: atypical findings and a novel mutation in NR0B1
  29. Clinical characteristics of children referred for signs of early puberty before age 3
  30. Effects of GnRH analogue treatment on anterior pituitary hormones in children with central precocious puberty
  31. Anti-Müllerian hormone in children: a ten-year prospective longitudinal study (EarlyBird 39)
  32. Patient reports
  33. A rare cause of fatal pulmonary alveolar proteinosis: Niemann-Pick disease type C2 and a novel mutation
  34. Migratory polyarthritis as an adverse effect of thiamazole use in a 13-year-old girl with Graves’ disease
  35. Dyshormonogenesis seems to be more frequent in a group of Cameroonian children with congenital hypothyroidism
  36. Primary systemic carnitine deficiency: a Turkish case with a novel homozygous SLC22A5 mutation and 14 years follow-up
  37. Cerebral infarction and femoral venous thrombosis detected in a patient with diabetic ketoacidosis and heterozygous factor V Leiden G1691A and PAI-1 4G/5G mutations
  38. Combined adrenal failure and testicular adrenal rest tumor in a patient with nicotinamide nucleotide transhydrogenase deficiency
  39. Short communication
  40. Tamoxifen-associated hirsutism: an unusual side effect in a 5-year-old girl with McCune-Albright syndrome
  41. Letters to the Editor
  42. Psychiatric disorders are associated with increased risk for developing hyponatraemia in children
  43. Rett syndrome and precocious puberty association
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