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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...

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Autores principales: Appaiah, Sonali, Mudalagiri, Manasa, Bantwal, Ganapathi, Ayyar, Vageesh, George, Belinda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2022
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).
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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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