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

Abstract

Background/Aims: The risk factors for pituitary hormone dysfunction (PHD) in children with optic nerve hypoplasia (ONH) are not well understood. This study identified the type, timing, and predictors of PHD in children with ONH. Methods: ONH patient charts were reviewed retrospectively. The incidence rate of PHD was calculated assuming a Poisson distribution. Predictors of PHD were identified through a multivariable Cox proportional hazards model. Results: Among 144 subjects with ONH, 49.3% (n = 71) developed PHD over 614.7 person-years of follow-up. The incidence was 11.55 (95% confidence interval [CI]: 9.02–14.57/100 person-years). The median time to first PHD was 2.88 (interquartile range: 0.02–18.72) months. Eighty-two percent developed their first PHD by their 5th and 90% by their 10th birthday, and 89% within 5 years of ONH diagnosis. Prematurity (adjusted hazard ratio [aHR]: 0.33; 95% CI: 0.1–1.07), blindness (aHR: 1.72; 95% CI: 1.03–2.86), maternal substance abuse (aHR: 1.51; 95% CI: 0.91–2.48), abnormal posterior pituitary (aHR: 3.8; 95% CI: 2.01–7.18), and hypoplastic/absent anterior pituitary (aHR: 2.52; 95% CI: 1.29–4.91) were significant predictors of PHD. Conclusions: The clinical predictors of PHD included blindness, pituitary gland abnormalities, and maternal substance abuse. These predictors help clinical decision-making related to the need for and frequency of hormone testing in pediatric patients with ONH.

High prevalence of pituitary hormone deficiency in both unilateral and bilateral optic nerve hypoplasia

“…Many patients in our cohort were not previously examined for PHD at all, but the data from the present study clearly showed that awareness of PHD is warranted in ONH. In contrast to Ramakrishnaiah et al (8), but similar to the studies of Ahmad et al (15) and Alyahyawi et al (17), we could not find a significantly lower risk of hypopituitarism in unilateral ONH. Accordingly, we recommend that children with unilateral ONH should be followed up endocrinologically as closely as in bilateral ONH.…”

“…(29 vs. 28%) . This was a lower prevalence than many other studies , which was probably due to the population‐based design and the inclusion of 46% unilateral ONH and patients with less severe bilateral ONH. In addition, the lower prevalence of PHD in this study may be related to different aetiologies of ONH in different populations since the cause of ONH is unknown in the majority of cases.…”

“… and Alyahyawi et al. , we could not find a significantly lower risk of hypopituitarism in unilateral ONH. Accordingly, we recommend that children with unilateral ONH should be followed up endocrinologically as closely as in bilateral ONH.…”

“…Our results showed that 85% of the patients with PHD had their first PHD diagnosis within five years of age, which is close to the 82% reported by Alyahyawi et al. . In addition, 79% of all the PHD diagnoses were detected before the age of five and therefore, more frequent endocrine follow up is warranted during the first five years of life.…”

“…On the other hand, there is a consensus that radiological evidence of pituitary abnormalities is highly predictive of PHD . The actual prevalence of PHD in unilateral and bilateral ONH is still unknown despite many studies and ranges from 28 to 69% depending on study design and population . It is notable that children with unilateral ONH and milder disease are underrepresented in most studies.…”