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.
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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 | ||
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.
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