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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...

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Autores principales: Takanashi, Kuniko, Suzuki, Yashuto, Noro, Ayumu, Sugiyama, Minako, Nakanishi, Masanori, Nagashima, Tetsuro, Nakamura, Akie, Katsura, Ishizu, Tajima, Toshihiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: PAGEPress Publications 2011
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.
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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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