PMID- 22144223
OWN - NLM
STAT- MEDLINE
DCOM- 20120426
LR  - 20181201
IS  - 2299-8306 (Electronic)
IS  - 0423-104X (Linking)
VI  - 62
IP  - 6
DP  - 2011
TI  - Familial acromegaly - case study of two sisters with acromegaly.
PG  - 554-7
AB  - 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.
FAU - Malicka, Joanna
AU  - Malicka J
AD  - Department of Endocrinology, Medical University, Lublin, Poland. 
      jdmaliccy@poczta.onet.pl
FAU - Swirska, Joanna
AU  - Swirska J
FAU - Nowakowski, Andrzej
AU  - Nowakowski A
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Poland
TA  - Endokrynol Pol
JT  - Endokrynologia Polska
JID - 0370674
RN  - 12629-01-5 (Human Growth Hormone)
SB  - IM
MH  - Acromegaly/*genetics
MH  - Carney Complex/*genetics
MH  - Diagnosis, Differential
MH  - Female
MH  - Genetic Predisposition to Disease/*genetics
MH  - Genetic Testing
MH  - Growth Hormone-Secreting Pituitary Adenoma/*genetics
MH  - Human Growth Hormone/*metabolism
MH  - Humans
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia/*genetics
MH  - Pedigree
MH  - Siblings
MH  - Syndrome
EDAT- 2011/12/07 06:00
MHDA- 2012/04/27 06:00
CRDT- 2011/12/07 06:00
PHST- 2011/12/07 06:00 [entrez]
PHST- 2011/12/07 06:00 [pubmed]
PHST- 2012/04/27 06:00 [medline]
PST - ppublish
SO  - Endokrynol Pol. 2011;62(6):554-7.