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

Abstract

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.

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

“…Although SOD patients frequently demonstrate delayed puberty as a characteristic symptom of hormone deficiency, Case 6 showed precocious puberty. Several SOD patients with precocious puberty have previously been described ( 8 , 17 , 18 , 19 , 20 , 21 ). GH replacement therapy and arachnoid cysts are said to be related to precocious puberty ( 17 ), but the definitive mechanism responsible for this is unknown.…”

“…Several SOD patients with precocious puberty have previously been described ( 8 , 17 , 18 , 19 , 20 , 21 ). GH replacement therapy and arachnoid cysts are said to be related to precocious puberty ( 17 ), but the definitive mechanism responsible for this is unknown. Most SOD patients with precocious puberty have a normal pituitary structure with agenesis of the septum pellucidum ( 8 ); several disorders which control the onset of puberty above the hypothalamus seem to be associated with this characteristic.…”

Hypernatremia in an Infant: A Case of Septo-Optic Dysplasia

“…The most common hormone deficiencies associated with SOD are growth and thyroid hormones, and these patients may experience developmental delay [ 14 ]. There is also a risk of precocious or late puberty, with the latter occurring in patients not receiving growth hormone supplementation [ 15 ]. Although newborn screening for this patient was negative for CAH and congenital hypothyroidism, it is very useful in diagnosing endocrinopathies that present at birth.…”

Central precocious puberty – etiology with particular consideration of neurological causes

“…reported CPP in 4 patients in whom SOD and GH deficiency had previously been diagnosed [ 20 ]. Relatively rare co-occurrence of somatotropin deficiency and the development of CPP is more prevalent in patients with SOD in whom an arachnoid cyst was also noted [ 21 ]. Although the mechanism of CPP development in patients with SOD remains unknown, it is presumed to be due to structural changes in the hypothalamus.…”