Bilateral ovarian agenesis and the presence of the testis-specific protein 1-Y-linked gene: two new features of Mayer-Rokitansky-Küster-hauser syndrome

Does the Y chromosome have a role in Müllerian aplasia?

“…Our PCR results show no amplification of the TSPY1 gene or 38 additional Y-specific fragments in patient samples. This indicates that the TSPY1 fragment, earlier suggested by Plevraki et al (12) to be involved in the etiology of M€ ullerian aplasia, is not present in our sample set and is not responsible for the syndrome in these Finnish patients.…”

“…The analyzed loci included a set of 33 Y chromosomal markers (sY84, sY134, sY117, sY102, sY151, sY94, sY88, sY283, sY157, sY158, sY81, sY182, sY147, sY86, sY105, sY82, Y6PHc54pr, sY97, sY14, sY254, sY95, sY127, sY149, Fr15-lipr, Y6HP52pr, Y6D14pr, sY160, sY144, sY255, sY159, sY277, Y6HP35pr, and sY145), which we refer to as the Y panel. To further improve the coverage of the Y chromosome, more loci were found for the short arm by searching the NCBI UniSTS database Polymerase chain reaction primers used for amplification of the TSPY1 gene (NT_011878, NCBI) according to Plevraki et al (12). Base positions of the primers (5 0 -3 0 ) are Y1.5 (9996136-9996155), Y1.6 (9996332-9996352), Y1.7 (9996156-9996176), and Y1.8 (9996311-9996331).…”

“…We have studied the earlier reported TSPY1 fragment (12) in 110 Finnish patients with M€ ullerian aplasia. By the use of PCR amplification, none of our patients showed the presence of this fragment (results summarized in Table 2).…”

“…Recently, Plevraki et al (12) reported the presence of fragments of a Y chromosomal gene, testis-specific protein 1-Ylinked (TSPY1), in two out of six females in whom MRKH syndrome was diagnosed. The biologic function of TSPY1 is unclear, but it is a candidate oncogene for gonadoblastoma and is supposed to function as a proliferation factor during spermatogenesis (13).…”

Congenital Malformations of the Reproductive Tract in a Patient with Poland Syndrome: Is There a Connection

“…To determine the pathogenesis of this syndrome, some candidate genes have been studied, such as the genes coding for galactose-1-phosphate uridyl transferase ( GALT ) [6], the cystic fibrosis transmembrane regulator chloride channel ( CFTR ) [7], and the anti-Müllerian hormone ( AMH ) and its receptor ( AMHR2 ) [8,9], as well as several developmental genes such as Wilms tumor 1 ( WT1 ), paired box gene 2 ( PAX2 ) [10], homeobox genes class a ( HOXA ) [11], or the testis-specific protein 1-Y-gene ( TSPY ) [12]; however, none of these genes were found to be implicated in the pathogenesis of MRKH syndrome. To date, only the WNT4 gene, which is considered to be a crucial signaling molecule for female sexual development, has been suggested to contribute to Müllerian duct abnormalities in women as well as in mice models [13,14,15,16,17].…”