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A multicenter study of endocrine abnormalities in septo-optic dysplasia (SOD) in Asean countries

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International Journal of Pediatric Endocrinology20152015 (Suppl 1) :P85

https://doi.org/10.1186/1687-9856-2015-S1-P85

  • Published:

Keywords

  • Public Health
  • Internal Medicine
  • Medical Record
  • Metabolic Disease
  • Clinical Manifestation

Background

Septo-optic dysplasia (SOD) is a heterogeneous malformation condition consisting of optic nerve hypoplasia, various types of forebrain defects and hormonal deficiencies. This study aims to expand knowledge about endocrine abnormalities in patients with SOD in ASEAN countries.

Material and method

Forty-eight patients (27 male, 21 female) who has been diagnosed as having SOD in ASEAN countries were clinically reviewed from medical records.

Results

Clinical manifestations and endocrine abnormalities of the patients are shown in Table 1
Table 1

Clinical manifestation of SOD patients

Clinical manifestation

 

Clinical manifestation

 

Age at presentation (months) mean ± SD

33 ± 39 months (range 20 - 178)

MRI findings

Absence of septum pellucidum(%)

62

Ht SDS, mean ± SD

-0.97 ± 1.97

 

Pituitary hypoplasia (%)

33

Wt SDS, mean ± SD

0.02 ± 2.35

 

Abnormal of corpus callosum (%)

16

Eye presentation

Nystagmus (%)

54

 

Cortical dysplasia (%)

8

 

Squint (%)

3

Endocrine abnormalities

Hypothyroid (%)

35

 

Poor vision (%)

35

 

GH insufficiency (%)

29

Delayed development (%)

16.2

 

Delayed/arrested puberty/suspected HG (%)

23

Seizure (%)

7.9

 

Cortical insufficiency (%)

17

Hypoglycemia (%)

8.1

 

Diabetes insipidus (%)

19

Neonatal jaundice (%)

2.7

Eye examination

Unilat ON hypoplasia

13

Undescended testes (%) (boys)

5.4

 

Bilat ON hypoplasia

84

Micropenis (%) (boys)

21

 

Microcornea

3

HG = Hypogonadism, ON = Optic nerve

Conclusion

This multicenter and multinational study shows that about 20-35 % of SOD patients have endocrine abnormalities. Hypothyroidism and GH insufficiency are the most common endocrine problems associated with this condition.

Authors’ Affiliations

(1)
A ASEAN Study group, Thailand
(2)
A ASEAN Study group, Indonesia
(3)
A ASEAN Study group, Philippines
(4)
A ASEAN Study group, Malaysia
(5)
A ASEAN Study group, Vietnam

Copyright

© Wacharasindhu et al; licensee BioMed Central Ltd. 2015

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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