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- Title
Coexisting pituitary and non‐pituitary gigantism in the same family.
- Authors
Marques, Pedro; Collier, David; Barkan, Ariel; Korbonits, Márta
- Abstract
The article reports a five‐generation kindred with two brothers with pituitary gigantism due to AIP mutation‐positive growth hormone (GH)‐secreting pituitary adenomas and their first‐cousin coincidently also having gigantism due to Marfan syndrome. It mentions that genetic testing identified a truncating heterozygous nonsense mutation in the AIP gene in both patients. It states that overlapping features between GH excess and other conditions can present challenging issues for patients.
- Subjects
GIGANTISM (Disease); GENETIC mutation; SOMATOTROPIN; MARFAN syndrome; GENETIC testing; NONSENSE mutation
- Publication
Clinical Endocrinology, 2018, Vol 89, Issue 6, p887
- ISSN
0300-0664
- Publication type
Article
- DOI
10.1111/cen.13852