X-ring Turner's syndrome with combined immunodeficiency and selective gonadotropin defect.
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.
Donti
E
E
Istituto di Clinica Medical, Università di Perugia, Italy.
Nicoletti
I
I
Venti
G
G
Filipponi
P
P
Gerli
R
R
Spinozzi
F
F
Cernetti
C
C
Rambotti
P
P
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
D006065:Gonadotropins, Pituitary