Accessible Unlicensed Requires Authentication Published by De Gruyter December 9, 2019

Onset of pituitary hormone deficiencies in optic nerve hypoplasia: a temporal trend analysis of 32 children at Mayo Clinic

Heather D. Wadams, Nidhi Gupta ORCID logo, Paul Novotny and Peter J. Tebben



The objective of this study was to evaluate the age at onset and frequency of individual pituitary hormone deficiencies (PHDs) in optic nerve hypoplasia (ONH).


We performed a retrospective chart review of patients ≤21 years of age evaluated between 1996 and 2014. Patients were included if they had: (1) ONH diagnosed by an ophthalmologist and/or magnetic resonance imaging (MRI), (2) documentation of pituitary hormone function on at least two separate occasions and (3) at least one PHD documented or a midline abnormality of the brain on MRI.


Thirty-two patients (18 females, 14 males) were included (median age, 8 years [range, 1.1–21.0 years]). All patients had ONH (bilateral, n = 31; unilateral, n = 1) and at least one midline abnormality of the brain. At least one PHD was present in 75% of patients (n = 24). The remaining 25% of patients (n = 8) did not develop any PHD at least until the last follow-up (<2–8.6 years of follow-up), despite the presence of ONH and a midline abnormality of the brain. The median age (years) at diagnosis of antidiuretic hormone (ADH), thyroid-stimulating hormone (TSH), adrenocorticotropic hormone (ACTH) and growth hormone (GH) deficiencies was 0.5, 0.6, 0.7 and 1.6, respectively. Twenty-three percent of all PHDs were identified during the neonatal period, 56% by 12 months and 72% by 36 months of age. The latest age at diagnosis of GH, ACTH and TSH deficiencies was 9.6, 9.9 and 12.6 years, respectively.


The majority of the PHDs in ONH develop within the first 3 years of life. We propose evaluation for endocrinopathies at the time of diagnosis of ONH, with repeat assessment for new deficiencies every 3–4 months until age 3 years and at least semi-annually until growth and puberty are complete.

Corresponding author: Peter J. Tebben, MD, Division of Endocrinology and Metabolism, Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, MN, USA; and Division of Endocrinology, Metabolism and Nutrition, Department of Medicine, Mayo Clinic, Rochester, MN, USA, Phone: +507-284-3300, Fax: +507-284-0727
aHeather D. Wadams and Nidhi Gupta contributed equally as first authors.


We would like to acknowledge Sonia Watson PhD, Mayo Clinic for editorial assistance with this manuscript.

  1. Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission. HDW, NG and PJT contributed to the study design, data collection, data analysis, interpretation of data and manuscript writing. PN played a role in data analysis, interpretation of data and manuscript writing. The first draft of the manuscript was written by HDW and NG.

  2. Research funding: Funded by CTSA Grant Number UL1 TR000135 from the National Center for Advancing Translational Sciences (NCATS), a component of the National Institutes of Health (NIH).

  3. Employment or leadership: None declared.

  4. Honorarium: No honorarium grant or other form of payment was given to anyone to produce the manuscript.

  5. Competing interests: The funding organization played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.


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Article note

This study was presented as an abstract at the 2018 annual meeting of Endocrine Society (March 2018, Chicago).

Received: 2019-06-14
Accepted: 2019-11-11
Published Online: 2019-12-09
Published in Print: 2020-01-28

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