TY - JOUR
T1 - Onset of pituitary hormone deficiencies in optic nerve hypoplasia
T2 - A temporal trend analysis of 32 children at Mayo Clinic
AU - Wadams, Heather D.
AU - Gupta, Nidhi
AU - Novotny, Paul
AU - Tebben, Peter J.
N1 - Funding Information:
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).
Publisher Copyright:
© 2020 2020 Walter de Gruyter GmbH, Berlin/Boston.
PY - 2020/1/1
Y1 - 2020/1/1
N2 - 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.
AB - 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.
KW - growth hormone deficiency
KW - hypopituitarism
KW - panhypopituitarism
KW - septo-optic dysplasia
UR - http://www.scopus.com/inward/record.url?scp=85077783221&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85077783221&partnerID=8YFLogxK
U2 - 10.1515/jpem-2019-0269
DO - 10.1515/jpem-2019-0269
M3 - Article
C2 - 31811804
AN - SCOPUS:85077783221
SN - 0334-018X
VL - 33
SP - 139
EP - 145
JO - Journal of Pediatric Endocrinology and Metabolism
JF - Journal of Pediatric Endocrinology and Metabolism
IS - 1
ER -