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Absent SRY gonadal dysgenesis (negative) is the set of clinical and biological manifestations linked to the lack of development of the testes in humans. Authors report the first case of gonadal dysgenesis SRY-negative 46, XX male with gynecomastia documented in Mali., Case Observation: This is a 15 years old boy of a deaf-mute brother, no family consanguinity. He was referred to the hospital because of severe bilateral gynecomastia. Hypergonado-tropic hypogonadism condition was investigated by hormonal laboratory assessment and the result of cytogenetic analysis carried out in France revealed a karyotype SRY-negative 46, XX isch Yp11, 3. The patient received psychological assistance and substitutive treatment based on testosterone. Reconstructive surgery was also conducted to correct urogenital malformations., Conclusion: Diagnosis of 46, XX male syndrome is rare and need cytogenetic analysis. In Mali, cost and availability of this technique make diagnosis difficult and care inadequate for patients., (Le comité de rédaction se réserve le droit de renvoyer aux auteurs avant toute soumission à l'avis des lecteurs les manuscrits qui ne seraient pas conformes à ces modalités de présentation. En outre il leur conseille de conserver un exemplaire du manuscrit, des figures et des tableaux.)

Abstract In this work we report the genetic polymorphism of a 7-bp insertion in the 3' untranslated region of the rabbit SRY gene. The polymorphic GAATTAA motif was found exclusively in one of the two divergent rabbit Y-chromosomal lineages, suggesting that its origin is more recent than the separation of the O. c. algirus and O. c. cuniculus Y-chromosomes. In addition, the remarkable observation of haplotypes exhibiting 0, 1 and 2 7-bp inserts in essentially all algirus populations suggests that the rabbit SRY gene is duplicated and evolving under concerted evolution.

Abstract In mammals, testis determination is under the control of the sex-determining gene SRY. This Y-linked gene encodes a protein with a DNA binding domain similar to those found in high-mobility-group proteins. Here we report the cloning and sequences of the SRY genes of yak and Chinese native cattle. Our data show that SRY genes in Bovidae are less divergent, especially in the coding and 3' regions.

Absent SRY gonadal dysgenesis (negative) is the set of clinical and biological manifestations linked to the lack of development of the testes in humans. Authors report the first case of gonadal dysgenesis SRY-negative 46, XX male with gynecomastia documented in Mali. Case observation: This is a 15 years old boy of a deaf-mute brother, no family consanguinity. He was referred to the hospital because of severe bilateral gynecomastia. Hypergonado-tropic hypogonadism condition was investigated by hormonal laboratory assessment and the result of cytogenetic analysis carried out in France revealed a karyotype SRY-negative 46, XX isch Yp11, 3. The patient received psychological assistance and substitutive treatment based on testosterone. Reconstructive surgery was also conducted to correct urogenital malformations. Conclusion: Diagnosis of 46, XX male syndrome is rare and need cytogenetic analysis. In Mali, cost and availability of this technique make diagnosis difficult and care inadequate for patients. [ABSTRACT FROM AUTHOR]

Abstract The mammalian sex determining gene, SRY, is the founding member of the new growing family of Sox (SRY-like HMG-box gene) genes. Sox genes encode transcription factors with diverse roles in development, and a few of them are involved in sex determination and differentiation. We report here the existence of Sox genes in the rice field eel, Monopterus albus, and DNA sequence information of the HMG box region of five Sox genes. The Sox1, Sox4 and Sox14 genes do not have introns in the HMG box region. The Sox9 gene and Sox17 gene, which each have an intron in the conserved region, show strong identity at the amino acid level with the corresponding genes of mammals and chickens. Similar structure and identity of the Sox9 and Sox17 genes among mammals, chickens and fish suggest that these genes have evolutionarily conserved roles, potentially including sex determination and differentiation.

During mammalian embryogenesis, the presence of the SRY gene determines the bipotential gonad to develop as a testis. 46,XY sex reversal has been described in man. It is associated with an essentially female phenotype and a streak gonad. In a collaborative study, we analysed 36 patients with a 46,XY sex reversal. The testis determining region of the Y chromosome was analysed by Southern blotting and by DGGE analysis of the SRY open reading frame (orf). We found a total of 7 mutations in the testis determining region including the SRY gene. This brings to 19 the total number of mutations in SRY associated with sex reversal. No relationship was found between the SRY status and the presence or absence of gonadoblastoma. However, a correlation was observed between the SRY genotype and the histology of the gonad. A mutant in SRY is associated with a completely dysgenetic gonad. The presence of immature testicular tubules is usually observed when SRY is normal. These latter results suggest the existence of as yet unidentified testis determining genes.

Objective: Couples with a risk of transmitting X-linked diseases included in a preimplantation genetic diagnosis (PGD) center need early and rapid fetal sex determination during pregnancy in two situations. The first situation corresponds to control of embryo sexing after PGD, the second one being that of couples in PGD program having a spontaneous pregnancy. Determination of fetal sex can be achieved by karyotyping using invasive procedures such as chorionic villus sampling (CVS), amniocentesis or cordocentesis and by non-invasive procedures such as ultrasound (US) examination. CVS is the earliest invasive procedure for fetal sex determination and molecular analysis of X-linked genetic disorders during the first trimester but it is associated with a risk of fetal loss. US allows reliable fetal sex determination only during the second trimester. Recently, reliable non-invasive fetal sex determination was realized by using SRY gene amplification in maternal serum., Patients and Methods: We report the prospective use of fetal sex determination in maternal serum in our PGD center. Management of pregnancies was performed using this non-invasive procedure in four cases of embryo sexing control and nine cases of spontaneous pregnancies in couples included in PGD program for X-linked diseases., Results: Fetal sex results using SRY gene amplification on maternal serum were in complete concordance with fetal sex observed by cytogenetic analysis or US examination, as well as at birth., Discussion and Conclusion: This new strategy allowed rapid sex determination during the first trimester and permitted to avoid performing invasive procedures in nine pregnancies.

Copyright of Médecine de la Reproduction is the property of John Libbey Eurotext Ltd. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

One of the results of the water treatment process is the sludge. Generally, the processed sludge from the water treatment is collected and delivered to a landfil. With the delivery of sludge waste, it requires additional cost as a levy in handling sludge waste. Therefore, it is needed to innovate on the recycling of sludge. The waste recycling process is expected to minimize the residual impact of the Water Treatment Plant. The process of waste recycling can be done by utilizing sludge from water treatment, which is brick making process. The benefits can eliminate environmental problems and also some economic problems. This study aims to determine the potential of sludge from water treatment plant to be added for brick making by investigating the physical and characteristics of sludge. The research findings show that sludge waste has the potential to become a brick raw material depending on the nature and clay microstructure

The sex of an individual is determined at the time of fertilization. The mother passes on one sex chromosome, the X chromosome, and the father transmits the second sex chromosome, X or Y. Thus, an XX embryo becomes a female, whereas an XY individual becomes a male. A process known as "primary sex determination" allows the bipotential gonad to become a testis or an ovary in XY and XX embryos, respectively. In 1990, the Sry gene, located on the Y chromosome, was found to be necessary and sufficient to induce the male developmental program. At this time, the scientific community thought that other genes involved in the process of sex determination would be rapidly identified. However, it took more than 30 years to identify the ovarian determining factor. This factor is one variant of WT1, denoted -KTS, which is required to induce ovarian development in XX mice and can prevent male development of the gonad when it is prematurely activated in XY embryos. Because the -KTS variant of WT1 acts very early during development, this discovery opens new avenues for research on ovarian development, as it happened for SRY for testis development. It will also lead to a better understanding of the regulatory gene networks implicated in many unresolved cases of sex development disorders., (© 2024 médecine/sciences – Inserm.)

Objectif: La mutation SRY retrouvée dans 15 % des dysgénésies gonadiques pures est généralement de novo. Nous rapportons ici le cas d’une dysgénésie gonadique pure diagnostiquée suite au caryotype systématique effectué devant toute tumeur gonadique germinale. Le bilan génétique met en évidence la même mutation du gène SRY chez la patiente et sa sœur présentant aussi une dysgénésie gonadique pure avec un caryotype 46, XY. Sujet: Le diagnostic de dysgerminome gonadique évoqué par la clinique (douleur et masse abdominale chez une jeune fille de 17 ans) associé à l’élévation des β HCG et une masse gonadique sur l’imagerie, a permis de mettre en évidence une dysgénésie gonadique pure avec un caryotype 46, XY au vu du bilan endocrinien et du phénotype féminin de la patiente sans signe de virilisation. Résultats: L’enquête génétique a retrouvée une mutation du gène SRY chez elle et sa sœur présentant aussi une dysgénésie gonadique pure 46, XY posant la question d’une éventuelle mosaïque germinale paternel. Conclusion: Le caryotype doit être systématique devant toute tumeur gonadique germinale, étant donné le fort risque de dégénérescence tumorale des tissus gonadiques dans les dysgénésies gonadiques. Pour la même raison, devant toute dysgénésie gonadique il faut effectuer une gonadectomie prophylactique bilatérale. Enfin dans la littérature une seule autre famille de mutation génique SRY a été décrite (de même origine géographique), les mutations étant généralement de novo. [Copyright &y& Elsevier]

Our knowledge on sex differentiation in mammals has considerably progressed during the last decennials, beginning with the discovery of the testis-determining factor. Here, the morphogenetic processes involved in the early gonadic switch will be presented, together with the major genes involved in testis and ovary formation. Existing differences between the widely used mouse model and other mammals, such as human and goat, will be highlighted., (© 2011 médecine/sciences – Inserm / SRMS.)

Objective: Fetal sex prediction can be achieved using PCR targeted at the SRY gene by analyzing cell-free fetal DNA in maternal serum. Unfortunately, the results reported to date, show lack of sensitivity, especially in the first trimester of pregnancy. Therefore, determination of fetal sex by maternal serum analysis can not replace caryotype analysis following chorionic villus sampling., Patients and Methods: A new highly sensitive real-time PCR was developed to detect a SRY gene sequence in maternal serum. Analysis was performed on 121 pregnant women during their first trimester of pregnancy (mean gestational age: 11.8 weeks). Among them, 61 had at least one previous male-bearing pregnancy. Results were compared to fetal sex., Results: SRY PCR analysis of maternal serum was in complete concordance with fetal sex. Among the 121 pregnant women, 61 were bearing a male fetus and 60 a female fetus No false negative results were observed. Furthermore, no false positive results results occurred although 27 women carried female fetus during the current pregnancy, had at least one previous male-bearing pregnancy., Discussion and Conclusion: This study demonstrates that a reliable, non-invasive sex determination can be achieved by PCR analysis of maternal serum during the first trimester of pregnancy. This non-invasive approach for fetal sex prediction should have great implications in the management of pregnant women carriers of an X-linked genetic disorder. Prenatal diagnosis is thus performed for male fetuses only, avoiding invasive procedures and the risk of fetal loss for female fetuses.

The male sex determination controls the testis determination and differentiation. So far more than a dozen of gene have been characterised, including the primary Y male sex determinant: SRY gene. All the genes encode transcription factor except FDF9 which encodes a growth factor allowing mesonephritic cell to divide and migrate to the mesenchyme. All these gene products are sensitive in man (but not in the mouse model) to gene dosage: haplo-insufficiency and or duplication of these genes all lead to sex reversal. Today, we still do not know how their products are epistatic in the sex determining cascade. So far no ovary sex determining gene has been characterised.

Testis determination is the complex process by which the bipotential gonad becomes a normal testis during embryo development. As a consequence, this process leads to sexual differentiation corresponding to the masculinization of both genital track and external genitalia. The whole phenomenon is under genetic control and is particularly driven by the presence of the Y chromosome and by the SRY gene, which acts as the key initiator of the early steps of testis determination. However, many other autosomal genes, present in both males and females, are expressed during testis formation in a gene activation pathway, which is far to be totally elucidated. All these genes act in a dosage-sensitive manner by which quantitative gene abnormalities, due to chromosomal deletions, duplications or mosaicism, may lead to testis determination failure and sex reversal. [Copyright &y& Elsevier]

Abstract: Although specifically male, the human Y chromosome may be observed in female karyotypes, mostly in women with Turner syndrome stigmata. In women with isolated gonadal dysgenesis but otherwise normal stature, the testis determining factor or SRY gene may have been removed from the Y chromosome or may be mutated. In other women with Turner syndrome, the karyotype is usually abnormal and shows a frequent 45,X/46,XY mosaicism. In these cases, the phenotype depends on the ratio between Y positive and 45,X cell lines in the body. When in mosaicism, Y chromosomes are likely to carry structural abnormalities which explain mitotic instability, such as the existence of two centromeres. Dicentric Y isochromosomes for the short arm (idic[Yp]) or ring Y chromosomes (r[Y]) are the most frequent abnormal Y chromosomes found in infertile patients and in Turner syndrome in mosaic with 45,X cells. Although monocentric, deleted Y chromosomes for the long arm and those carrying microdeletions in the AZF region are also instable and are frequently associated with a 45,X cell line. Management of infertile patients carrying such abnormal Y chromosomes must take into account the risk and the consequences of a mosaicism in the offspring. [Copyright &y& Elsevier]

Copyright of Hematologie is the property of John Libbey Eurotext Ltd. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Proges en Urologie is the property of Elsevier B.V. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Canadian Journal of Bioethics / Revue canadienne de bioéthique is the property of Ecole de Sante Publique de l'Universite de Montreal and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Médecine de la Reproduction is the property of John Libbey Eurotext Ltd. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Chez les Mammifères, la différenciation sexuelle résulte d’une cascade complexe dont le premier acteur est le gène SRY, porté par le chromosome Y, qui masculinise la gonade indifférenciée. Cependant, certains individus, en l’absence de SRY, présentent un développement testiculaire et une réversion du sexe. Chez la chèvre, par exemple, la réversion du sexe d’individus XX en l’absence du gène SRY ou d’autres séquences du chromosome Y est étroitement liée à l’absence de corne (mutation motte) puisqu’aucun recombinant n’a jamais été observé. Ce syndrome, nommé PIS pour Polled Intersex Syndrome, est causé par des mutations dans un ou deux gènes autosomiques que nous avons localisés dans un premier temps à proximité de deux marqueurs microsatellites d’origine bovine sur le chromosome 1 caprin. Les cartes génétique, cytogénétique et physique de la région ont ensuite été construites à l’aide, d’une part, de banques d’ADN issues de chromosome 1 trié, des bandes 1q42, 1q43 et 1q44 microdisséquées et de grands fragments (BAC) et, d’autre part, de la cartographie comparée avec les gènes ou EST (expressed sequence tags) localisés dans la région humaine homologue. Ces différentes approches ont permis de localiser le gène PIS au sein d’un contig de 1,5 Mb, dans une région de 100 kb autour d’un marqueur microsatellite.

Objectifs: Présentation de 3 patients 46XX présentant une anomalie de la différenciation sexuelle (ADS), virilisation et présence de tissu testiculaire en l’absence de SRY détectable. Patients: Les 3 enfants 46XX SRY- pris en charge à l’Hôpital Debrousse à Lyon présentent un aspect clinique assez similaire : micropénis, hypos-pade périnéal, hémiscrotum bien développé d’un coté contenant une gonade (testicule en anatomie pathologique) et hypoplasie de l’autre hémiscrotum (streak gonade inguinale ou intra abdominale). Résultats: Le premier patient était déclaré garçon à la naissance – le diagnostic a été réalisé à l’âge de 9 mois et l’intervention chirurgicale pour son hypos-pade postérieur (Koyanagi) a été réalisée à 17 mois. Le deuxième enfant a été déclaré garçon à la naissance mais le diagnostic a été fait rapidement (15 jours de vie). Après changement du sexe civil, la féminisation a été effectuée à l’âge de 7 mois. Le troisième enfant a été vu à la naissance, la déclaration du sexe à l’état civil a été différée pour attendre l’ensemble des résultats (caryotype, biologie, génitoscopie et génitographie, biopsie des gonades) et, après discussion avec les parents, l’orientation a été décidée dans le sexe féminin. L’intervention de féminisation est prévue vers l’âge de 5 mois. Discussion: Le rôle du SRY est considéré comme primordial pour permettre la différenciation testiculaire à partir de la gonade dite indifférenciée chez les mammifères. Chez ces 3 patients, l’absence de SRY détectable soulève plusieurs hypothèses : 1) Le SRY a existé et a disparu (« Y vanishing syndrome ») ; 2) Le SRY existe mais n’a pas été détectés ; 3) la présence d’autres gènes (SOX 9, gènes répresseurs) peut être suffisante pour remplacer SRY. Conclusion: En cas d’ADS, l’assignement d’un genre c’est-à-dire l’attribution d’une identité sociale relève de plusieurs facteurs que sont : le sexe intérieur (gènes, gonades et hormones), le sexe extérieur (phénotype des organes génitaux externes et internes), le sexe fonctionnel (possibilités de relations sexuelles et fertilité) et enfin le sexe social et culturel (milieu d’élevage, regard de la mère etc…) Les démarches diagnostiques et la prise en charge chirurgicale sont discutées, ainsi qu’une revue de la littérature actuelle. [Copyright &y& Elsevier]

Résumé: Objectifs: Le passage de cellules à travers le placenta est un processus normal de la grossesse et se produit de manière bidirectionnelle entre la mère et le fœtus. Méthodes: Nous avons évalué la présence de cellules mâles d’origine fœtale dans des cultures cellulaires de tissus synoviaux et cutanés issus de femmes atteintes de polyarthrite rhumatoïde (PR) ayant déjà été enceinte et ayant subi une synovectomie. Le gène marqueur région déterminant le sexe Y (SRY) a, dans ce but, été amplifié par PCR. Résultats: Chez cinq patients atteints de PR sur 13 (38,5 %), de l’ADN d’origine masculine était détecté dans les échantillons de tissus synoviaux issus de carpe, de hanche, d’articulation métacarpophalangienne et métatarsophalangienne, à une fréquence de 0,02 à 62,55 (moyenne 12,1) cellules mâles pour 10000000 cellules. Le gène SRY dans les cultures de fibroblastes cutanés était aussi amplifié chez quatre patients PR sur dix (40 %) à une fréquence de 3,2 à 43,4 (moyenne 15,4) cellules mâles pour 10000000 cellules, respectivement. Les différences de fréquence de cellules mâles d’origine fœtale dans les deux cohortes n’étaient pas statistiquement significatives (p =0,77). Conclusions: Les cellules mâles d’origine fœtale issues de tissus non inflammatoires aussi bien que de tissus en état de stress sont capables de se diviser. Leur présence, mise en évidence après plusieurs passages, nous permet également de conclure qu’elles sont aussi capables de proliférer en culture. [Copyright &y& Elsevier]