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Three Japanese patients with congenital pituitary hormone deficiency and ophthalmological anomalies
The clinical phenotype of congenital pituitary hormone deficiency is variable and can be associated with a number of structural abnormalities of the central nervous system. We report three Japanese patients with congenital pituitary hormone deficiency and ophthalmological anomalies. Two of the patie...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
PAGEPress Publications
2011
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3207308/ https://www.ncbi.nlm.nih.gov/pubmed/22053264 http://dx.doi.org/10.4081/pr.2011.e20 |
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author | Takanashi, Kuniko Suzuki, Yashuto Noro, Ayumu Sugiyama, Minako Nakanishi, Masanori Nagashima, Tetsuro Nakamura, Akie Katsura, Ishizu Tajima, Toshihiro |
author_facet | Takanashi, Kuniko Suzuki, Yashuto Noro, Ayumu Sugiyama, Minako Nakanishi, Masanori Nagashima, Tetsuro Nakamura, Akie Katsura, Ishizu Tajima, Toshihiro |
author_sort | Takanashi, Kuniko |
collection | PubMed |
description | The clinical phenotype of congenital pituitary hormone deficiency is variable and can be associated with a number of structural abnormalities of the central nervous system. We report three Japanese patients with congenital pituitary hormone deficiency and ophthalmological anomalies. Two of the patients initially showed strabismus and unilateral optic nerve hypoplasia. Thereafter, growth failure became evident, leading to the diagnosis of pituitary hormone deficiency. The other patient had severe congenital hypopituitarism with respiratory distress and hypoglycemia from the first day of life. In addition, he had prolonged jaundice and impaired liver function with bilateral optic nerve hypoplasia. Neuroimaging of the pituitary region in all three patients demonstrated a small anterior pituitary lobe and no pituitary stalk. Our findings indicate that clinical variability of congenital hypopituitarism must be considered. In a patient with ophthalmological symptoms, endocrine evaluation and neuroimaging of the CNS including the pituitary region should be considered. |
format | Online Article Text |
id | pubmed-3207308 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2011 |
publisher | PAGEPress Publications |
record_format | MEDLINE/PubMed |
spelling | pubmed-32073082011-11-03 Three Japanese patients with congenital pituitary hormone deficiency and ophthalmological anomalies Takanashi, Kuniko Suzuki, Yashuto Noro, Ayumu Sugiyama, Minako Nakanishi, Masanori Nagashima, Tetsuro Nakamura, Akie Katsura, Ishizu Tajima, Toshihiro Pediatr Rep Brief Report The clinical phenotype of congenital pituitary hormone deficiency is variable and can be associated with a number of structural abnormalities of the central nervous system. We report three Japanese patients with congenital pituitary hormone deficiency and ophthalmological anomalies. Two of the patients initially showed strabismus and unilateral optic nerve hypoplasia. Thereafter, growth failure became evident, leading to the diagnosis of pituitary hormone deficiency. The other patient had severe congenital hypopituitarism with respiratory distress and hypoglycemia from the first day of life. In addition, he had prolonged jaundice and impaired liver function with bilateral optic nerve hypoplasia. Neuroimaging of the pituitary region in all three patients demonstrated a small anterior pituitary lobe and no pituitary stalk. Our findings indicate that clinical variability of congenital hypopituitarism must be considered. In a patient with ophthalmological symptoms, endocrine evaluation and neuroimaging of the CNS including the pituitary region should be considered. PAGEPress Publications 2011-07-18 /pmc/articles/PMC3207308/ /pubmed/22053264 http://dx.doi.org/10.4081/pr.2011.e20 Text en ©Copyright K. Takanashi et al., 2011 This work is licensed under a Creative Commons Attribution NonCommercial 3.0 License (CC BY-NC 3.0). Licensee PAGEPress, Italy |
spellingShingle | Brief Report Takanashi, Kuniko Suzuki, Yashuto Noro, Ayumu Sugiyama, Minako Nakanishi, Masanori Nagashima, Tetsuro Nakamura, Akie Katsura, Ishizu Tajima, Toshihiro Three Japanese patients with congenital pituitary hormone deficiency and ophthalmological anomalies |
title | Three Japanese patients with congenital pituitary hormone deficiency and ophthalmological anomalies |
title_full | Three Japanese patients with congenital pituitary hormone deficiency and ophthalmological anomalies |
title_fullStr | Three Japanese patients with congenital pituitary hormone deficiency and ophthalmological anomalies |
title_full_unstemmed | Three Japanese patients with congenital pituitary hormone deficiency and ophthalmological anomalies |
title_short | Three Japanese patients with congenital pituitary hormone deficiency and ophthalmological anomalies |
title_sort | three japanese patients with congenital pituitary hormone deficiency and ophthalmological anomalies |
topic | Brief Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3207308/ https://www.ncbi.nlm.nih.gov/pubmed/22053264 http://dx.doi.org/10.4081/pr.2011.e20 |
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