Τίτλος:
Gonadoblastoma in a patient with del(9)(p22) and sex reversal: report of
a case and review of the literature
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Studies of distinct clinical prototypes have significantly contributed
to our understanding of evolutionary abnormalities and their association
with neoplasia. We describe a phenotypic female, aged 20 years at
report, who was examined as an infant for developmental retardation. The
clinical characteristics of the 9p-syndrome were present and the
external genitalia were those of a normal female. The karyotype was
46XY,del(9)(p22). The parental karyotypes were normal. No SRY deletion
or mutation was detected. Sonography showed the presence of a uterus.
Basal luteinizing hormone values were normal; follicle stimulating
hormone values were high (40 WIL). Stimulation with human chorionic
gonadotropin did not produce any rise in testosterone. The gonads were
removed and histologic analysis disclosed dysgenetic gonads with
gonadoblastoma in situ. This case constitutes the fourth case of
gonadoblastoma developing in an individual with 9p- syndrome and sex
reversal. This and analogous prototypes point to a locus (or loci) on
the short arm of chromosome 9, which either constitutes a nonspecific
suppressor gene or a gonadoblastoma suppressor gene. An alternative
hypothesis would be that a gonad not normally differentiated is more
prone to gonadoblastoma development without any specific gene
involvement. (C) 2003 Elsevier Inc. All rights reserved.
Συγγραφείς:
Livadas, S
Mavrou, A
Sofocleous, C
van Vliet-Constantinidou,
C
Dracopoulou, M
Dacou-Voutetakis, C
Περιοδικό:
CANCER GENETICS AND CYTOGENETICS
Εκδότης:
EXCERPTA MEDICA INC-ELSEVIER SCIENCE INC
DOI:
10.1016/S0165-4608(02)00849-X
