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

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

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


Background: 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). Methods: 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. Results: 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. Conclusions: 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.

Original languageEnglish (US)
Pages (from-to)139-145
Number of pages7
JournalJournal of Pediatric Endocrinology and Metabolism
Issue number1
StatePublished - Jan 1 2020
Externally publishedYes


  • growth hormone deficiency
  • hypopituitarism
  • panhypopituitarism
  • septo-optic dysplasia

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology


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