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Coexisting pituitary and non‐pituitary gigantism in the same family
Author(s) -
Marques Pedro,
Collier David,
Barkan Ariel,
Korbonits Márta
Publication year - 2018
Publication title -
clinical endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.055
H-Index - 147
eISSN - 1365-2265
pISSN - 0300-0664
DOI - 10.1111/cen.13852
Subject(s) - gigantism , acromegaly , endocrinology , medicine , proband , adenoma , chromophobe cell , pituitary adenoma , pituitary gland , pituitary tumors , biology , mutation , genetics , growth hormone , hormone , clear cell , renal cell carcinoma , gene
Germline aryl hydrocarbon receptor-interacting protein (AIP) mutations are present in 15-30% of familial isolated pituitary adenoma (FIPA) families, and are responsible for 30% of pituitary gigantism cases (1). However, pathological accelerated growth and/or tall stature can be unrelated to the growth hormone (GH) axis, and may occur in isolation or as part of a syndrome, such as in Klinefelter, Marfan or Sotos syndromes (2). Here, we report a five-generation kindred with two brothers with pituitary gigantism due to AIP mutation-positive GH-secreting pituitary adenomas and their first-cousin coincidently also having gigantism due to Marfan syndrome (Figure 1). This article is protected by copyright. All rights reserved.