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Abstract 108: A case of familial acromegaly
We present a 22-year-old female who complained of headache and coarsening of facial appearance over 3 years without any visual disturbance/galactorrhoea/menstrual disturbance. There was a similar history in her mother at 44 years of age who underwent surgery and radiotherapy. On examination she had...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer - Medknow
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9067826/ http://dx.doi.org/10.4103/2230-8210.342229 |
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author | Appaiah, Sonali Mudalagiri, Manasa Bantwal, Ganapathi Ayyar, Vageesh George, Belinda |
author_facet | Appaiah, Sonali Mudalagiri, Manasa Bantwal, Ganapathi Ayyar, Vageesh George, Belinda |
author_sort | Appaiah, Sonali |
collection | PubMed |
description | We present a 22-year-old female who complained of headache and coarsening of facial appearance over 3 years without any visual disturbance/galactorrhoea/menstrual disturbance. There was a similar history in her mother at 44 years of age who underwent surgery and radiotherapy. On examination she had clinical features suggestive of active acromegaly with unremarkable systemic examination. Biochemistry revealed high IGF-1 (891 ng/ml), non suppressed post glucose load GH (19.3 ng/ml) without other pituitary hormone deficits. MRI Sella showed sellar suprasellar lesion suggestive of pituitary macroadenoma with chiasmal compression. In view of strong family history, a clinical exome sequencing was done which showed a heterozygous nonsense variation in exon 6 of the AIP gene (chr11:g.67490910C>T). |
format | Online Article Text |
id | pubmed-9067826 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Wolters Kluwer - Medknow |
record_format | MEDLINE/PubMed |
spelling | pubmed-90678262022-05-05 Abstract 108: A case of familial acromegaly Appaiah, Sonali Mudalagiri, Manasa Bantwal, Ganapathi Ayyar, Vageesh George, Belinda Indian J Endocrinol Metab Abstracts … Esicon 2021 We present a 22-year-old female who complained of headache and coarsening of facial appearance over 3 years without any visual disturbance/galactorrhoea/menstrual disturbance. There was a similar history in her mother at 44 years of age who underwent surgery and radiotherapy. On examination she had clinical features suggestive of active acromegaly with unremarkable systemic examination. Biochemistry revealed high IGF-1 (891 ng/ml), non suppressed post glucose load GH (19.3 ng/ml) without other pituitary hormone deficits. MRI Sella showed sellar suprasellar lesion suggestive of pituitary macroadenoma with chiasmal compression. In view of strong family history, a clinical exome sequencing was done which showed a heterozygous nonsense variation in exon 6 of the AIP gene (chr11:g.67490910C>T). Wolters Kluwer - Medknow 2022-03 /pmc/articles/PMC9067826/ http://dx.doi.org/10.4103/2230-8210.342229 Text en Copyright: © 2022 Indian Journal of Endocrinology and Metabolism https://creativecommons.org/licenses/by-nc-sa/4.0/This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms. |
spellingShingle | Abstracts … Esicon 2021 Appaiah, Sonali Mudalagiri, Manasa Bantwal, Ganapathi Ayyar, Vageesh George, Belinda Abstract 108: A case of familial acromegaly |
title | Abstract 108: A case of familial acromegaly |
title_full | Abstract 108: A case of familial acromegaly |
title_fullStr | Abstract 108: A case of familial acromegaly |
title_full_unstemmed | Abstract 108: A case of familial acromegaly |
title_short | Abstract 108: A case of familial acromegaly |
title_sort | abstract 108: a case of familial acromegaly |
topic | Abstracts … Esicon 2021 |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9067826/ http://dx.doi.org/10.4103/2230-8210.342229 |
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