Cargando…

Good Outcome for an Individual with Severe Facial Anomalies and Hypogonadotropic Hypogonadism: A Consequence of His Cognitive Function, Pragmatic Approach, and Temperament

The multiple factors that determine outcomes for individuals with visible developmental errors and/or atypical development of the reproductive system are not fully understood. This case report of an individual with Bosma arhinia microphthalmia syndrome causing severe facial anomalies and hypogonadot...

Descripción completa

Detalles Bibliográficos
Autores principales: Groh, Timothy L., Zarella, William, Lee, Peter A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8214474/
https://www.ncbi.nlm.nih.gov/pubmed/34194860
http://dx.doi.org/10.1155/2021/9957218
_version_ 1783710069965193216
author Groh, Timothy L.
Zarella, William
Lee, Peter A.
author_facet Groh, Timothy L.
Zarella, William
Lee, Peter A.
author_sort Groh, Timothy L.
collection PubMed
description The multiple factors that determine outcomes for individuals with visible developmental errors and/or atypical development of the reproductive system are not fully understood. This case report of an individual with Bosma arhinia microphthalmia syndrome causing severe facial anomalies and hypogonadotropic hypogonadism is used to highlight factors that impacted his adjustment from childhood through adulthood. Key factors include his temperament, intact cognitive ability, and pragmatic approach for controlling his physical and social environment. His successful adjustment even in the face of significant early life challenges demonstrates that positive outcomes are attainable for individuals with significant developmental errors. His story and experiences with the health-care system offer insight into some factors that may be pertinent to resilience and lifelong adjustment for patients with similar conditions and the importance of continually seeking the patient's perspective to tailor treatment across the lifespan.
format Online
Article
Text
id pubmed-8214474
institution National Center for Biotechnology Information
language English
publishDate 2021
publisher Hindawi
record_format MEDLINE/PubMed
spelling pubmed-82144742021-06-29 Good Outcome for an Individual with Severe Facial Anomalies and Hypogonadotropic Hypogonadism: A Consequence of His Cognitive Function, Pragmatic Approach, and Temperament Groh, Timothy L. Zarella, William Lee, Peter A. Case Rep Pediatr Case Report The multiple factors that determine outcomes for individuals with visible developmental errors and/or atypical development of the reproductive system are not fully understood. This case report of an individual with Bosma arhinia microphthalmia syndrome causing severe facial anomalies and hypogonadotropic hypogonadism is used to highlight factors that impacted his adjustment from childhood through adulthood. Key factors include his temperament, intact cognitive ability, and pragmatic approach for controlling his physical and social environment. His successful adjustment even in the face of significant early life challenges demonstrates that positive outcomes are attainable for individuals with significant developmental errors. His story and experiences with the health-care system offer insight into some factors that may be pertinent to resilience and lifelong adjustment for patients with similar conditions and the importance of continually seeking the patient's perspective to tailor treatment across the lifespan. Hindawi 2021-06-12 /pmc/articles/PMC8214474/ /pubmed/34194860 http://dx.doi.org/10.1155/2021/9957218 Text en Copyright © 2021 Timothy L. Groh et al. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Groh, Timothy L.
Zarella, William
Lee, Peter A.
Good Outcome for an Individual with Severe Facial Anomalies and Hypogonadotropic Hypogonadism: A Consequence of His Cognitive Function, Pragmatic Approach, and Temperament
title Good Outcome for an Individual with Severe Facial Anomalies and Hypogonadotropic Hypogonadism: A Consequence of His Cognitive Function, Pragmatic Approach, and Temperament
title_full Good Outcome for an Individual with Severe Facial Anomalies and Hypogonadotropic Hypogonadism: A Consequence of His Cognitive Function, Pragmatic Approach, and Temperament
title_fullStr Good Outcome for an Individual with Severe Facial Anomalies and Hypogonadotropic Hypogonadism: A Consequence of His Cognitive Function, Pragmatic Approach, and Temperament
title_full_unstemmed Good Outcome for an Individual with Severe Facial Anomalies and Hypogonadotropic Hypogonadism: A Consequence of His Cognitive Function, Pragmatic Approach, and Temperament
title_short Good Outcome for an Individual with Severe Facial Anomalies and Hypogonadotropic Hypogonadism: A Consequence of His Cognitive Function, Pragmatic Approach, and Temperament
title_sort good outcome for an individual with severe facial anomalies and hypogonadotropic hypogonadism: a consequence of his cognitive function, pragmatic approach, and temperament
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8214474/
https://www.ncbi.nlm.nih.gov/pubmed/34194860
http://dx.doi.org/10.1155/2021/9957218
work_keys_str_mv AT grohtimothyl goodoutcomeforanindividualwithseverefacialanomaliesandhypogonadotropichypogonadismaconsequenceofhiscognitivefunctionpragmaticapproachandtemperament
AT zarellawilliam goodoutcomeforanindividualwithseverefacialanomaliesandhypogonadotropichypogonadismaconsequenceofhiscognitivefunctionpragmaticapproachandtemperament
AT leepetera goodoutcomeforanindividualwithseverefacialanomaliesandhypogonadotropichypogonadismaconsequenceofhiscognitivefunctionpragmaticapproachandtemperament