open access

Vol 62, No 6 (2011)
Case report
Published online: 2011-12-06
Submitted: 2013-02-15
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Familial acromegaly — case study of two sisters with acromegaly

Joanna Malicka, Joanna Świrska, Andrzej Nowakowski
Endokrynologia Polska 2011;62(6):554-557.

open access

Vol 62, No 6 (2011)
Case report
Published online: 2011-12-06
Submitted: 2013-02-15

Abstract

In the majority of cases, acromegaly is sporadic. However, it can also occur in a familial setting as a component of MEN-1, MEN-4, Carney complex (CNC) or as the extremely rare syndrome of isolated familial somatotropinoma (IFS), the latter belonging to familial isolated pituitary adenomas (FIPA). The diagnosis of IFS is based on the recognition of acromegaly/gigantism in at least two family members, given that the family is not affected by MEN-1, MEN-4 or CNC.
The authors present a case study of two sisters: a 56 year-old patient (case no. 1) and a 61 year-old patient (case no. 2). In both sisters, acromegaly was recognised in the course of pituitary macroadenoma. Neither of the sisters showed features of MEN-1, MEN-4 or Carney complex.
The authors suppose that the presented cases are manifestations of IFS. However, this diagnosis has not been confirmed yet because of the poor availability of genetic tests. (Pol J Endocrinol 2011; 62 (6): 554–557)

Abstract

In the majority of cases, acromegaly is sporadic. However, it can also occur in a familial setting as a component of MEN-1, MEN-4, Carney complex (CNC) or as the extremely rare syndrome of isolated familial somatotropinoma (IFS), the latter belonging to familial isolated pituitary adenomas (FIPA). The diagnosis of IFS is based on the recognition of acromegaly/gigantism in at least two family members, given that the family is not affected by MEN-1, MEN-4 or CNC.
The authors present a case study of two sisters: a 56 year-old patient (case no. 1) and a 61 year-old patient (case no. 2). In both sisters, acromegaly was recognised in the course of pituitary macroadenoma. Neither of the sisters showed features of MEN-1, MEN-4 or Carney complex.
The authors suppose that the presented cases are manifestations of IFS. However, this diagnosis has not been confirmed yet because of the poor availability of genetic tests. (Pol J Endocrinol 2011; 62 (6): 554–557)
Get Citation

Keywords

familial acromegaly; isolated familial somatotropinoma; Carney complex; MEN syndrome

About this article
Title

Familial acromegaly — case study of two sisters with acromegaly

Journal

Endokrynologia Polska

Issue

Vol 62, No 6 (2011)

Pages

554-557

Published online

2011-12-06

Bibliographic record

Endokrynologia Polska 2011;62(6):554-557.

Keywords

familial acromegaly
isolated familial somatotropinoma
Carney complex
MEN syndrome

Authors

Joanna Malicka
Joanna Świrska
Andrzej Nowakowski

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