title: Familial hypopituitarism associated with mosaic form of Turner syndrome.
abstract: We present herein an unusual coincidence of familial hypopituitarism associated with a mosaic form of Turner syndrome in two adult sisters (51 and 43 years old). Both patients had hypopituitarism diagnosed in childhood. They have never been administered growth hormone, and remained short in stature. They were not given long-term estrogen-progestin treatment, despite lack of menstruation. Early in childhood both received thyroid hormone substitution. Pituitary imaging revealed pituitary hypoplasia with partial empty sella in one sister, and pituitary hypoplasia in the other. Very recently, during endocrinological evaluation, they were diagnosed with a mosaic form of Turner syndrome, additionally to their hypopituitarism. In this paper, we place special emphasis on the results of hormonal analyses and discuss the differential diagnosis.
authors.affiliation: Department of Endocrinology, Regional Hospital Opole, Poland.
authors.forename: Elzbieta
authors.initials: E
authors.lastname: Lomna-Bogdanov
authors.forename: Marek
authors.initials: M
authors.lastname: Bolanowski
authors.forename: Ryszard
authors.initials: R
authors.lastname: Slezak
authors.forename: Violetta
authors.initials: V
authors.lastname: Sokolska
authors.forename: Bogusław
authors.initials: B
authors.lastname: Pałczyiński
authors.forename: Adam
authors.initials: A
authors.lastname: Spring
authors.forename: Marek
authors.initials: M
authors.lastname: Demissie
mesh_terms: D000328:Adult; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007018:Hypopituitarism / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D008875:Middle Aged; D009030:Mosaicism; D014424:Turner Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*