Use of probes for ZFY, SRY, and the Y pseudoautosomal boundary in XX males, XX true hermaphrodites, and an XY female.

Abstract

Three XX males, two XX true hermaphrodites, and an XY female were studied for possible deletions using probes for In view of the discovery of the SRY gene, we used probes spanning the region of the Y chromosome from the pseudoautosomal boundary to the ZFY gene to examine the DNA from six subjects: three XX males, two XX true hermaphrodites, and one XY female. Two of the patients, one XX male and one XX true hermaphrodite, reared as a male, are brothers and were studied previously with the ZFY probe.7Materials and methods PATIENTSThe sporadic cases have not been published previously. The XY female is of Caucasian origin and the other three subjects are Brazilian.

Two SRY -negative XX male brothers without genital ambiguity

“…These results also excluded the marker chromosome as a hidden or scarce lineage containing a structurally abnormal Y chromosome. The fact that our patients are Y negative is in agreement with those familial cases with more than one XX male (Abbas et al 1990;Numabe et al 1992) and within families where XX males coexist with XX true hermaphrodites (Vergnaud et al 1986;Ostrer et al 1989;Pereira et al 1991;Kuhnle et al 1993;McElreavey et al 1993;Ramos et al 1996). To explain the occurrence of Y-negative XX males, McElreavey et al (1993) proposed that the SRY gene acts by inhibiting a regulatory autosomal recessive gene, termed Z, whose product is a negative regulator of male sex determination.…”

“…Three of these familial cases were further studied at the DNA level, revealing that members of two families were Y negative (Abbas et al 1990;Numabe et al 1992; previously reported by Minowada et al 1979) and one was Y positive (Page et al 1985; reported by de la Chapelle et al 1977). In addition, nine families have been described where 46,XX males coexist with 46,XX true hermaphrodites, suggesting a common genetic origin in both disorders (Berger et al 1970;Kasdan et al 1973;Vergnaud et al 1986;Skordis et al 1987;Palmer et al 1989;Pereira et al 1991;Kuhnle et al 1993;McElreavey et al 1993;Ramos et al 1996). In the last seven families, molecular studies were performed revealing that all but one (Palmer et al 1989) were Y negative.…”

Sry‐negative XX sex reversal in the American cocker spaniel dog

“…Presently, the only gene that has been identified to cause XX sex reversal in humans is Y to X translocation of the SRY gene (Pereira et al, 1991), although surveys have shown that some XX sex reversed humans are SRY negative (Palmer et al, 1989;McElreavey et al, 1922;Berkovitz et al, 1992). These SRY -negative humans and Sry-negative dogs probably represent a genetic subset of XX sex reversal syndromes: those caused by mutations in autosomal genes in the testis differentiation pathway.…”

“…In XX true hermaphrodites, gonadal masculinization is incomplete; the go-nads have testicular and ovarian components. The only gene that has been identified to cause XX sex reversal in humans is Sry, through Y and X translocation (Pereira et al, 1991). In such families, the inheritance pattern is consistent with simple dominant inheritance.…”

The Male Pseudohermaphrodite XX Polled Goat is Zfy and Sry Negative

“…There are, however, also cases reported without SRY. Most of them are sporadic but at least five families have been observed ( PEREIRA et al 1991;BERKOVITZ et al 1992;MCELREAVEY et al 1993). In families reported earlier, the probands were not tested for presence of SRY.…”