title: X-ring Turner's syndrome with combined immunodeficiency and selective gonadotropin defect.
abstract: A rare association of chromosomal, immunological and endocrine defects is described in a young woman with short stature, recurrent pulmonary infections and primary amenorrhea. Cytogenetic studies showed a 45, X karyotype in 65% of peripheral blood lymphocytes and 46,Xr(X) (p22q27) karyotype in the remaining 35%. Severe immunodeficiency was revealed by phenotypical and functional studies and a selective gonadotropin defect was disclosed by endocrinological investigations. An attempt is made to explain the coexistence of the three abnormal pictures.
authors.affiliation: Istituto di Clinica Medical, Università di Perugia, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Donti
authors.forename: I
authors.initials: I
authors.lastname: Nicoletti
authors.forename: G
authors.initials: G
authors.lastname: Venti
authors.forename: P
authors.initials: P
authors.lastname: Filipponi
authors.forename: R
authors.initials: R
authors.lastname: Gerli
authors.forename: F
authors.initials: F
authors.lastname: Spinozzi
authors.forename: C
authors.initials: C
authors.lastname: Cernetti
authors.forename: P
authors.initials: P
authors.lastname: Rambotti
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations; D005260:Female; D006065:Gonadotropins, Pituitary / Q000172:deficiency*; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications*; D012303:Ring Chromosomes; D014424:Turner Syndrome / Q000150:complications* / Q000235:genetics
chemical_list: D006065:Gonadotropins, Pituitary