title: Familial acromegaly - case study of two sisters with acromegaly.
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.
authors.affiliation: Department of Endocrinology, Medical University, Lublin, Poland. jdmaliccy@poczta.onet.pl
authors.forename: Joanna
authors.initials: J
authors.lastname: Malicka
authors.forename: Joanna
authors.initials: J
authors.lastname: Świrska
authors.forename: Andrzej
authors.initials: A
authors.lastname: Nowakowski
mesh_terms: D000172:Acromegaly / Q000235:genetics*; D056733:Carney Complex / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D049912:Growth Hormone-Secreting Pituitary Adenoma / Q000235:genetics*; D019382:Human Growth Hormone / Q000378:metabolism*; D006801:Humans; D008875:Middle Aged; D009377:Multiple Endocrine Neoplasia / Q000235:genetics*; D010375:Pedigree; D035781:Siblings; D013577:Syndrome
chemical_list: D019382:Human Growth Hormone