The Male Pseudohermaphrodite XX Polled Goat is Zfy and Sry Negative

Abstract

The Polled mutation of the goat is inherited as an autosomal dominant trait. Homozygotes with a 60,XX karyotype develop into intersexes. We looked for the presence of Y-chromosomal sequences (Zfy and Sry) in a male pseudohermaphrodite polled goat by Southern blotting and PCR analysis. Molecular analysis revealed that this XX goat had no Sry sequence. It showed identical hybridization patterns, using the human SRY and ZFY probes at low stringency, with the normal XX female goat, whereas an XY male revealed prominent Sry and Zfy signals. Identical results were obtained from PCR analysis with the caprine Sry primers. The possible role of an autosomal recessive gene in the induction of testes and maleness is discussed.

Two Cases of Bovine Male Pseudohermaphrodites with Different Endocrinological and Pathological Findings

“…Clinical case of triplet ending with live calves was very low less than 0.6% [10]. In the normal male, Y chromosome-linked SRY gene is responsible for male sex determination [2,11], whereas in the XY female, mutation of SRY gene is detected [5][6][7]. Therefore, Case 2 which showed only XY chromosome with female like genitalia, however, possession of testis and detection of SRY gene was implied that Case 2 was not a case of XY female.…”

“…PH has been reported in several species, but sporadic in cattle. There are limited cases reports concerning bovine PH, however these often lack general investigation in endocrinological aspect for gonadal function, comparing external and internal genitalia using ultrasonography, or chromosomal examination [5,8,16]. In the present study, we investigated two cases of male PH, which had different nature of endocrinological, cytogenetical and pathophysiological findings.…”

“…, Mineto TANI 3) , Kazumi NIBE 4) , Go KITAHARA 2) , Shingo HANEDA 5) , Motozumi MATSUI 5) , Yoh-Iichi MIYAKE 5) and Shunichi KAMIMURA 2) Abnormal development of the reproductive organs occurs with different incidence in several species [11,17]. A male or a female pseudohermaphrodite (PH) depends upon the nature of the gonadal tissues.…”

The sex determination in <i>Ellobius lutescens</i> remains bizarre

“…With this kind of a negative result one is always in good company with colleagues working on female pseudohermaphroditism as has been described for the "polled" goats (Soller et al, 1969;Just et al, 1994;Pailhoux et al, 1994) or with people working on Tokudaia osimensis. As a consequence of negative results, additional genes have to be considered that may have gained a testis-determining function.…”

<i>Ellobius lutescens</i>: Sex Determination and Sex Chromosome

“…Again, these animals are infertile and, therefore, unwanted in farming. Another example of cloven-hoofed animals with autosomal recessive XX sex reversal are the Sry -negative polled goats [Asdell, 1944;Just et al, 1994;Pailhoux et al, 1994b] -again infertile without germ cells in their gonads. The genetic cause of this kind of sex reversal is presented below.…”