Endocrine and pubertal disturbances in optic nerve hypoplasia, from infancy to adolescence

Abstract

BackgroundEndocrinologic abnormalities are a common co-morbidity in patients with optic nerve hypoplasia (ONH), however the impact on puberty is unknown. The purpose of this study was to examine rates of endocrine dysfunction and pubertal disturbances in a pediatric population of ONH.MethodsA retrospective chart review was conducted on a cohort of children with ONH between January 2005 and March 2013. Endocrine dysfunction was determined based on laboratory evidence of hormone deficiency or hormone replacement. Pubertal disturbances were characterized based on presence of micropenis, tanner staging, menarche and hormone replacement. Pituitary abnormalities were classified using MRI findings. Descriptive statistics were used, and comparisons between groups were performed using the chi-square test.ResultsDuring the study period, 101 patients underwent an endocrine evaluation (median age: 2.3 years [0.76 – 6.5]). Hypopituitarism was present in 73% of patients with growth hormone deficiency (56%) and hypothyroidism (54%) being the most common. Pubertal disturbances (n = 19) were common; micropenis in 31% (13/42) of males and 2% with precocious puberty. Half of adolescents (n = 4/8) were diagnosed with gonadotropin deficiency. Patients with MRI pituitary abnormalities were more likely to have endocrine dysfunction than those without (p = 0.004). The sensitivity and specificity of MRI pituitary abnormalities for hypopituitarism was 54% and 92%, respectively.ConclusionsA significant proportion of children with ONH have endocrine dysfunction. The high frequency of pubertal disturbances in this study emphasizes the need for long-term monitoring of developing endocrinopathy. While pituitary gland abnormalities are a good predictor of endocrine dysfunction, a normal pituitary gland does not rule out endocrinopathy.

Pituitary Dysfunction in Pediatric Patients with Optic Nerve Hypoplasia: A Retrospective Cohort Study (1975–2014)

“…PHD develops in some patients with ONH, with estimates ranging from 26 to 82%, depending on the sample population [2, 3, 7, 8]. Current studies, although cross-sectional in design, point to an increased risk of developing pituitary hormone deficiencies when structural abnormalities of the pituitary gland are present [9, 10], as well as ophthalmologic factors such as bilateral ONH and blindness [2, 11].…”

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

“…However, SOD is heterogeneous and may accompany other brain anomalies and developmental delay [1,2]. Regarding pubertal disturbance, patients with SOD usually show gonadotropin deficiency as a manifestation of hypopituitarism; however, it has been reported that several patients showed central precocious puberty [3]. Here we report a Japanese girl with SOD accompanying Growth Hormone (GH) deficiency, Adrenocorticotropic Hormone (ACTH) deficiency, and central precocious puberty.…”

“…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.…”

“…Cerebellar hypoplasia, schizencephaly, aplasia of the fornix, encephalocele, and cortical dysplasia were also reported in SOD patients [1][2][3]. In addition, neurological symptoms are frequently observed, including mental retardation, epilepsy, and communicative or behavioral difficulties [1].…”

“…The patient also showed central precocious puberty in addition to GH and ATCH deficiency. In SOD, both gonadotropin deficiency and central precocious puberty have been reported [3,[6][7][8]. Central precocious puberty usually includes acceleration of the growth rate and GH deficiency usually shows growth failure.…”