Septo-Optic Dysplasia: Antenatal Risk Factors and Clinical Features in a Regional Study

Atapattu, Navoda; Ainsworth, John; Willshaw, H E; Parulekar, Manoj; MacPherson, Lesley; Miller, Claire; Davies, Paul S.; Kirk, Jeremy

doi:10.1159/000341148

Cited by 36 publications

(42 citation statements)

References 41 publications

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“…This is presumably related to SOD. The most common hormone deficiency is GH alone or in combination with deficiencies in other pituitary hormones [1][2][3][4]. Secondary adrenal insufficiency due to ACTH deficiency has also been reported in SOD patients.…”

Section: Discussionmentioning

confidence: 99%

“…However, it has been reported that the degree of ACTH deficiency can gradually progress in congenital combined pituitary hormone deficiency [5]. Moreover, Atapattu et al [4] reported that among 227 patients with SOD, 3 patients died from adrenal crisis. Therefore, the evaluation of the hypothalamic-pituitary-adrenal system is mandatory in patients with SOD.…”

Section: Discussionmentioning

confidence: 99%

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A Patient with Septo-Optic Dysplasia Accompanying with Central Precocious Puberty

Tajima¹

2015

J Clin Case Rep

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Septo-Optic Dysplasia (SOD) is a heterogeneous condition defined by any combination of i) optic nerve hypoplasia, ii) hypopituitarism, and iii) midline brain anomalies such as agenesis of the corpus callosum and absence of the septum pellucidum. We encountered a Japanese girl with optic nerve hypoplasia, growth failure, precocious puberty, and mild developmental delay. Her optic nerve hypoplasia was diagnosed at 4 months of age. Thereafter, she showed growth failure from infancy. Gradual breast development was noticed from 6 years of age. Therefore, she was referred to us at 9.2 years of age. Endocrinological investigations demonstrated deficiencies in growth hormone, adrenocorticotropic hormone, and cortisol. However, serum levels of luteinizing hormone, follicle stimulating hormone, and estradiol were increased to pubertal levels. Brain MRI revealed bilateral optic nerve hypoplasia, a normal anterior pituitary lobe, an invisible pituitary stalk, and an invisible posterior lobe. Based on these findings, she was diagnosed as having SOD with growth hormone deficiency, secondary adrenal insufficiency, and central precocious puberty. Replacement of hydrocortisone, recombinant growth hormone replacement, and suppression therapy by gonadotropin releasing hormone analog were initiated. Her growth rate and physical activity were improved after treatment. While SOD is rare, children with optic nerve hypoplasia should be carefully checked for symptoms of pituitary hormone deficiency. Timely diagnosis of endocrine deficits could reduce the morbidity of patients with SOD.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

A Patient with Septo-Optic Dysplasia Accompanying with Central Precocious Puberty

Tajima¹

2015

J Clin Case Rep

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“…Some antenatal risk factors such as younger maternal and paternal age, primigravida birth, drug and alcohol abuse, maternal diabetes and first trimester bleeding have been associated with SOD 16 17. The association of SOD and increased first trimester bleeding may indicate that SOD is a vascular disruption sequence 17…”

Section: Discussionmentioning

confidence: 99%

Septo-optic dysplasia: fitting the pieces together

et al. 2013

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A 7-year-old boy was admitted for a general tonic-clonic seizure with severe hypoglycaemia (1.39 mmol/l). His medical history was remarkable for a congenital left eye strabismus, unilateral cryptorchidism and three previous episodes of hypoglycaemic seizures with inconclusive metabolical and neurological investigations. Physical examination revealed a hoarse tone voice, dry skin, cold extremities and height in the third percentile (target height between 50th and 85th percentile). Left wrist radiography revealed a bone age of 4.5 years ±6 months Laboratory studies confirmed growth hormone deficiency and central hypothyroidism. The brain MRI showed an ectopic neurohypophysis. Neuroophthalmology investigation revealed left optic nerve hypoplasia and septo-optic dysplasia was then diagnosed. Thyroid and recombinant growth hormone replacement were started showing clinical improvement. A detailed clinical history and a careful physical examination in children presenting with multiple clinical signs of hypopituitarism may lead to a timely diagnosis, avoiding clinical morbidity associated to untreated hormonal abnormalities.

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“…Fifteen years later, the clinical signs observed in SOD were defined as De Morsier syndrome. In 1970, hypophyseal dysfunction was shown in patients with SOD (2). The incidence of this disease, which is equally seen in both sexes, is 1/10 000 (2,3,4).…”

Section: Introductionmentioning

confidence: 99%

“…In 1970, hypophyseal dysfunction was shown in patients with SOD (2). The incidence of this disease, which is equally seen in both sexes, is 1/10 000 (2,3,4). Diagnosis is made by the presence of two out of three criteria, namely, optic nerve hypoplasia, hypopituitarism and midline brain defects (septum pellucidum and/or corpus callosum agenesis/hypoplasia) (2,3,4,5).…”

Section: Introductionmentioning

confidence: 99%

Acceleration of Puberty During Growth Hormone Therapy in a Child with Septo-Optic Dysplasia

Çatlı

Altıncık²,

Anık³

et al. 2014

Jcrpe

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Septo-optic dysplasia (SOD) is a heterogeneous disorder of the central nervous system characterized by various endocrinological and neurological findings. It is a complex disease caused by a combination of genetic and environmental factors. Herein, we report the case of a 5.5-year-old girl who presented with short stature and strabismus. Ophthalmological examination revealed bilateral optic nerve hypoplasia. Ectopic posterior pituitary and bilateral optic hypoplasia were detected on brain magnetic resonance imaging. The presence of bilateral optic nerve hypoplasia and hypopituitarism led to the diagnosis of SOD. An abated growth hormone (GH) response was found in the GH stimulation test and GH replacement therapy was initiated. At the end of the first year of clinical follow-up, secondary hypothyroidism was detected and L-thyroxine was added to the treatment. At the age of 8.25 years, thelarche was noted and 6 months later, the patient presented with menarche. At this time, the bone age was 12 years and the basal luteinizing hormone level was 7 mIU/mL. These findings indicated acceleration in the process of pubertal development. We report this case (i) to emphasize the need to investigate hypopituitarism in cases with bilateral optic nerve hypoplasia and (ii) to draw attention to the fact that during the follow-up of SOD cases receiving GH therapy, inappropriate acceleration of growth velocity and rapid improvement in bone age may be predictive of central precocious puberty development.

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Septo-Optic Dysplasia: Antenatal Risk Factors and Clinical Features in a Regional Study

Cited by 36 publications

References 41 publications

A Patient with Septo-Optic Dysplasia Accompanying with Central Precocious Puberty

A Patient with Septo-Optic Dysplasia Accompanying with Central Precocious Puberty

Septo-optic dysplasia: fitting the pieces together

Acceleration of Puberty During Growth Hormone Therapy in a Child with Septo-Optic Dysplasia

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