Endocrine status of patients with septo-optic dysplasia: fourteen Japanese cases

Abstract

Abstract.A clinical diagnosis of septo-optic dysplasia (SOD) is made when two or more of the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities or midline brain defects. To date, a clinical study of SOD, regarding its endocrinological features in particular, has not been undertaken in Japan. We retrospectively evaluated 14 SOD patients at our institution. Hormonal dysfunction was present in 78% of cases: ten cases presented combined hypopituitarism and one case presented precocious puberty. GHD and hypothyroidism were the most common endocrinopathies. A thin pituitary stalk and a gradual decrease in hormone secretion were the main characteristics. SOD patients usually visited ophthalmologists during early infancy because of eye problems; however, the medical examination did not always lead to endocrine assessments being made. Consequently, children who have eye problems with optic nerve hypoplasia should undergo head MRI imaging. If diagnosed with SOD, it is very important to evaluate pituitary functions. Their endocrinological status should be followed for a long time, even if they do not exhibit any endocrinological problems at evaluation.

Endocrine Dysfunction in Children with Zika-Related Microcephaly Who Were Born during the 2015 Epidemic in the State of Pernambuco, Brazil

“…Among the twenty children with corpus callosum hypoplasia, six also had optic nerve hypoplasia, which strengthens the idea that cerebral and ocular abnormality may be associated with hypothalamus–pituitary axis dysfunction, as described in the condition of septal-optic dysplasia [ 10 , 28 , 29 ]. These patients should be carefully evaluated and monitored for this condition.…”

“…Among children with Zika-related microcephaly, midline defects, such as corpus callosum dysgenesis and pellucid septum [ 2 , 5 ], and significant ophthalmic abnormalities with optic nerve involvement, including optic nerve hypoplasia and optic nerve pallor [ 6 ] have been described. As these alterations, together referred to as septo-optic dysplasia, are known to form a classic triad with hypothalamus–pituitary axis dysfunction [ 7 , 8 , 9 , 10 ], we hypothesized that endocrine dysfunction may present in children with congenital Zika syndrome (CZS).…”

Long‐term postnatal outcome of fetuses with prenatally suspected septo‐optic dysplasia

“…Partial or complete pituitary dysfunction has been reported to complicate up to 78% of cases of SOD 23 , with the most common deficiencies being in growth and central hypothyroidism. A gradual decrease in hormone secretion was an important characteristic of SOD in that series and thus, periodic evaluations are recommended even if no endocrinological problems are evident at birth 23 . While short stature and failure to thrive were common in our series, despite normal growth hormone levels, poor vision, with or without optic nerve hypoplasia, was not.…”

Sphenoethmoidal meningoencephalocele with variable hypopituitarism: A case report and review of literature

“…This syndrome is characterized by optic nerve hypoplasia, pituitary endocrine dysfunction, and midline brain abnormalities, such as agenesis of the septum pellucidum or corpus callosum, although only 30% of patients present all three major symptoms of the brain, eyes, and pituitary gland. Pituitary dysfunction is observed in 44 to 81% of these patients, most of whom are suspected of having hypothalamic hypopituitarism ( 12 , 13 , 14 ). These findings of endocrinological dysfunction overlap with those associated with sphenoidal meningoencephalocele, suggesting that the same pathogenesis underlies both of these congenital disorders.…”