The Pluripotential Cell Marker, OCT 3/4, Is Only Expressed in Some Sub-types of Human Dysgenetic Testes (HDT), and in Prepubertal Androgen Insensitivity Syndrome (CAIS)

BERENSZTEIN, E; PONCIO, R; COSTANZO, M; WARMAN, M; CIACCIO, M; VAIANI, E; GUERCIO, G; MARINO, R; SARACCO, N; BAQUEDANO, M; RAMIREZ, P; PEREZ GARRIDO, N; GALEANO, J; DAVILA, M; BAILEZ, M; RIVAROLA, M; BELGOROSKY, A

Costa do Sauipe

Congreso; XXI Reunión Anual de la Sociedad Latinoamericana de Endocrinología Pediátrica (SLEP 2010); 2010

SLEP

OCT-3/4 is detected in CIS germ cells (GC). OCT 3/4, C-KIT (SCFreceptor) and MAGE-A4 (mature spermatogonia marker) immunoexpression in HDT and in CAIS gonads during prepuberty (PP) and puberty (PU) was analyzed: 1 PU and 2 PP 46,XY HDT patients (p) with SF-1 gene mutation (Gr1); 1 46,XY PPp without mutations (Gr2); 2 46,XX ovotesticular dysgenesis (Gr3); 2 mixed gonadal dysgenesis (Gr4); 2 CAIS PPp (Gr5) and tissues from PP and PU (n=23) control testes (CGr) were analyzed. Strong OCT 3/4 signal (range 18–67%) in all gonads from Grs 2, 3, 4 and 5 but not Gr1 or CGr was found. C-kit was absent in most pGrs while it was present in CGr. MAGE A4, was only present in CGr, in Gr2 and in one patient from Gr4. No AR or ERa expression was detected in any sample. In contrast to a high expression of ERb and ARO in CGs, no positive signal was found in pGrs. Genomic SF1 gene mutations might protect from CIS. The expression of OCT 3/4 in PP CAIS GC suggests that there is a risk in postponing gonadectomy to PU age. Local GC estrogens might be involved in preservation of GC pool in human testis.