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Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation

journal
https://www.readbyqxmd.com/read/30179878/meiotic-synapsis-and-gene-expression-altered-by-a-balanced-y-autosome-reciprocal-translocation-in-an-azoospermic-pig
#1
Nicolas Mary, Daniel A F Villagómez, Tamas Revay, Samira Rezaei, Brendan Donaldson, Alain Pinton, W Allan King
Meiotic sex chromosome silencing (MSCS) has been argued as a prerequisite for normal meiotic cell division progression during the synaptic prophase I stage. Furthermore, irregular asynapsis of autosomal axes at meiosis may be encompassing the lack of transcriptional activity normally observed for the X and Y sex chromosomes. Therefore, any chromosomal rearrangement compromising the normal mechanism of MSCS and/or the contrary, the normal meiotic transcriptional activity of autosomal chromosomes, may be observed as a meiotic and concomitant spermatogenesis arrest...
September 5, 2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/30165367/complete-androgen-insensitivity-syndrome-due-to-mutations-in-the-dna-binding-domain-of-the-human-androgen-receptor-gene
#2
Pooja Chauhan, Anjali Rani, Surya K Singh, Amit K Rai
Androgen insensitivity syndrome (AIS) is an X-linked recessive disorder with a 46,XY karyotype caused by alterations in the androgen receptor (AR) gene. We have identified 2 mutations in the AR gene that resulted in complete androgen insensitivity syndrome (CAIS) in 2 unrelated cases. This study includes cytogenetics, hormonal, molecular, and bioinformatics analysis including sequencing of the SRY (sex-determining region Y) and AR genes. Mutational analysis in the first case of primary amenorrhea revealed a novel nucleotide substitution (IVS2-2A>G) in the second intron of the AR gene...
August 31, 2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/30089300/impaired-spermatogenesis-due-to-small-supernumerary-marker-chromosomes-the-reason-for-infertility-is-only-reliably-ascertainable-by-cytogenetics
#3
Thomas Liehr, Ahmed B Hamid Al-Rikabi
Infertile male with small supernumerary marker chromosomes (sSMCs) were studied. Overall, 37 own patients and 166 cases from the literature were included. sSMCs of our own cases were characterized by multicolor-FISH probe sets. Available clinical data of the infertile males were also evaluated, and meta-analysis on suitability of molecular karyotyping for sSMC characterization was done. As a result, sSMCs can be optimally characterized by single-cell directed (molecular) cytogenetics. In infertile males, sSMCs derive predominantly from one of the acrocentric chromosomes, mainly chromosomes 15, 14, and 22...
August 9, 2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/30086548/persistent-m%C3%A3-llerian-duct-syndrome-in-a-german-shepherd-dog
#4
Lisa De Lorenzi, Silvana Arrighi, Debora Groppetti, Stefania Bonacina, Pietro Parma
In mammals, the regression of the müllerian ducts is regulated by the action of the AMH hormone which is produced by testes during embryonic development. The action of this hormone is mediated by the only known receptor AMHR2. Mutations occurring in the AHM hormone and/or in the AMHR2 receptor gene cause the lack of regression of müllerian ducts, which may therefore persist even in male embryos carrying a XY chromosomal arrangement. This is known as the persistent müllerian duct syndrome (PMDS). A female German Shepherd dog was referred to the veterinary clinic because of urinary incontinence...
August 8, 2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/30071527/disorder-of-sexual-development-in-a-mare-with-an-unusual-tentative-mosaic-karyotype-63-x-64-xdel-y
#5
Stefanie Neuhauser, Johannes Handler, Claude Schelling, Aldona Pieńkowska-Schelling
The present report describes a 4-year-old Trakehner mare which was referred to the clinic for a breeding soundness evaluation. Clinical, histological, and postmortem examination revealed an underdeveloped genital tract, the absence of a cervix uteri, and small inactive ovaries without male gonadal tissue. Blood lymphocyte analysis revealed an unusual mosaic karyotype consisting of 2 cell lines. For the majority of cells (70%), monosomy X (63,X) was observed. The remaining cells (30%) contained 64 chromosomes including one X chromosome and a small rudimentary Y chromosome consisting mostly of heterochromatin...
August 3, 2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/30064134/functional-and-structural-study-of-the-amino-acid-substitution-in-a-novel-familial-androgen-receptor-mutation-w752g-responsible-for-complete-androgen-insensitivity-syndrome
#6
Françoise Paris, Abdelhay Boulahtouf, Nicolas Kalfa, Marie P Guibal, Laura Gaspari, Nadège Servant, William Bourguet, Charles Sultan, Patrick Balaguer
Mutations of the androgen receptor (AR) gene are the most frequent cause of 46,XY disorders of sex development. They are associated with a variety of phenotypes, ranging from phenotypic women (complete androgen insensitivity syndrome, CAIS) to milder degrees of undervirilization (partial forms) or men with only infertility (mild form). We identified a new W752G AR mutation responsible for a familial case of CAIS and performed an in vitro study and structural analysis of this mutation and the only other reported substitution affecting the same amino acid (W752R)...
August 1, 2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/30032139/a-homozygous-missense-mutation-in-fanca-gene-in-a-46-xy-female-with-gonadal-dysgenesis
#7
Inas Mazen, Kenneth McElreavey, Maha M Eid, Anu Bashamboo, Ghada Kamah
Fanconi anemia (FA) is a pleiotropic condition with 2 characteristic phenotypic markers of hematological and cytogenetic changes. The phenotype of patients with FA is very heterogeneous, associated with an array of congenital malformations affecting the skeletal, renal, genital, and/or central nervous systems. Here, we report on a 46,XY female who presented with gonadal dysgenesis and microcephaly. Exome sequencing showed that she was homozygous for a rare variant in the FANCA gene (c.4232C>T, p.P1411L, rs201494304)...
July 21, 2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/30007989/clinical-and-cytogenetic-study-of-egyptian-patients-with-sex-chromosome-disorders-of-sex-development
#8
Inas M Mazen, Mona K Mekkawy, Hanan M Ibrahim, Alaa K Kamel, Rasha T Hamza, Aya A Elaidy
Disorders of sex development (DSD) are conditions with an abnormal development of chromosomal, gonadal, or anatomical sex. Sex chromosome DSD involve conditions associated with either numerical or structural abnormalities of the sex chromosomes. This study included patients comprising a wide spectrum of presenting features suggestive of DSD and aimed at studying the frequency of sex chromosome abnormalities among 108 Egyptian DSD patients who presented to the Clinical Genetics and Endocrinology Clinics, National Research Centre (NRC) over the 2-year period of 2013 and 2014...
July 14, 2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29936513/involving-individuals-with-disorders-of-sex-development-and-their-parents-in-exploring-new-models-of-shared-learning-proceedings-from-a-dsdnet-cost-action-workshop
#9
Caroline Sanders, Joanne Hall, Caroline Sanders, Arianne Dessens, Jillian Bryce, Nina Callens, Martine Cools, Mariam Kourime, Andreas Kyriakou, Alexander Springer, Laura Audi, Antonio Balsamo, Violeta Iotova, Vilhelm Mladenov, Maciej Krawczynski, Agneta Nordenskjöld, Marta Rozas, Hedi Claahsen-van der Grinten, Olaf Hiort, Stefan Riedl, S Faisal Ahmed
The level of connection between health care professionals and people who experience a condition that affects sex development is variable. These people and associated support groups need to be included in discussions about research and healthcare delivery. The aim of this study was to understand the experiences of individuals with disorders of sexual development (DSD), their parents, health care providers, and support groups. Workshop planning, preparation, delivery, and evaluation involved members of working groups from the COST Action DSDnet...
June 23, 2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29913458/triploid-colubrid-snake-provides-insight-into-the-mechanism-of-sex-determination-in-advanced-snakes
#10
Michail Rovatsos, Barbora Augstenová, Marie Altmanová, Michal Sloboda, Petr Kodym, Lukáš Kratochvíl
The advanced snakes (Caenophidia), the important amniote lineage encompassing more than 3,000 living species, possess highly conserved female heterogamety across all families. However, we still lack any knowledge on the gene(s) and the molecular mechanism controlling sex determination. Triploid individuals spontaneously appear in populations of diploid species and can provide an important insight into the evolution of sex determination. Here, we report a case of spontaneous triploidy in a male of the twin-spotted ratsnake (Elaphe bimaculata) with ZZW sex chromosomes...
June 19, 2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29902797/hypospadias-is-not-rare-in-dogs-five-new-cases-a-retrospective-study-and-a-review-of-the-literature
#11
Marek Switonski, Stanislaw Dzimira, Roman Aleksiewicz, Izabela Szczerbal, Joanna Nowacka-Woszuk, Paulina Krzeminska, Tomasz Deska, Wojciech Nizanski
Hypospadias, the abnormal position of the urethral orifice, is considered a rare congenital malformation of the reproductive organs in male dogs. We present 5 new cases of hypospadias - 2 of the penile type in German Shepherd Dogs and 3 perineal types in a Bavarian Mountain Hound, a French Bulldog, and an American Staffordshire Terrier. Other abnormalities (rudimentary or underdeveloped penis, incompletely formed preputial sheath, and bilateral cryptorchidism) were also observed. Molecular analysis of all cases revealed the presence of Y-linked genes (SRY and ZFY)...
June 13, 2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29902792/xy-sry-positive-ovarian-disorder-of-sex-development-in-cattle
#12
Lisa De Lorenzi, Silvana Arrighi, Elena Rossi, Pierangela Grignani, Carlo Previderè, Stefania Bonacina, Fausto Cremonesi, Pietro Parma
In mammals, the sex of the embryo depends on the SRY gene. In the presence of at least one intact and functional copy of this genetic factor (XY embryo) undifferentiated gonads will develop as testicles that subsequently determine the male phenotype. When this factor is not present, i.e., in subjects with 2 X chromosomes, an alternative pathway induces the development of ovaries, hence a female phenotype. In this case study, we describe a female cattle affected by a disorder of sex development (DSD). The subject, despite having a chromosomal XY constitution, did not develop testicles but ovaries, although they were underdeveloped...
2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29895016/commentary-on-the-article-androgen-insensitivity-syndrome-at-prepuberty-marked-loss-of-spermatogonial-cells-at-early-childhood-and-presence-of-gonocytes-up-to-puberty-by-aliberti-et-al
#13
COMMENT
Faruk Hadziselimovic
No abstract text is available yet for this article.
2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29886504/a-case-of-two-sisters-suffering-from-46-xy-gonadal-dysgenesis-and-carrying-a-mutation-of-a-novel-candidate-sex-determining-gene-stard8-on-the-x-chromosome
#14
Erkut Ilaslan, Pierre Calvel, Dominika Nowak, Maria Szarras-Czapnik, Jolanta Slowikowska-Hilczer, Anna Spik, Pauline Sararols, Serge Nef, Jadwiga Jaruzelska, Kamila Kusz-Zamelczyk
Identification of novel genes involved in sexual development is crucial for understanding disorders of sex development (DSD). Here, we propose a member of the START domain family, the X chromosome STARD8, as a DSD candidate gene. We have identified a missense mutation of this gene in 2 sisters with 46,XY gonadal dysgenesis, inherited from their heterozygous mother. Gonadal tissue of one of the sisters contained Leydig cells overloaded with cholesterol droplets, i.e., structures previously identified in 46,XY DSD patients carrying mutations in the STAR gene encoding another START domain family member, which is crucial for steroidogenesis...
2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29879705/the-mosaicism-ratio-of-45-x-may-explain-the-phenotype-in-a-case-of-mixed-gonadal-dysgenesis
#15
Megumi Hatano, Ryuji Fukuzawa, Yukihiro Hasegawa
Some patients with mixed gonadal dysgenesis (MGD), whose prototypical karyotype is 45,X/46,XY, are known to manifest complications characteristic of Turner syndrome. We report a 16-year-old social male with MGD presenting with coarctation of the aorta, one of the common complications for Turner syndrome. At birth, the patient was found to have hypospadias, bifid scrotum, and cryptorchidism. Chromosomal analysis of his lymphocytes revealed the karyotype 45,X[7]/46,X,dic(Y;22)(p11.3;q13.3)[23] (named 45,X/46,X+Y fragment in this article)...
2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29879699/differentiation-and-evolution-of-the-w-chromosome-in-the-fish-species-of-megaleporinus-characiformes-anostomidae
#16
Lucas Caetano de Barros, Diovani Piscor, Patricia P Parise-Maltempi, Eliana Feldberg
The W chromosome of Megaleporinus trifasciatus was isolated in order to analyze its behavior in the karyotype of this and other species of the family, including forms with differentiated and undifferentiated sex chromosomes. The chromosome was microdissected, and the WMt probe was prepared for the chromosome painting procedure. M. trifasciatus was also cross-hybridized (cross-FISH) using existing probes available for M. macrocephalus (WMm) and M. elongatus (WMe). Two Leporinus species and Semaprochilodus taeniurus, representing a clade close to the Anostomidae, were also cross-hybridized with the objective to better understand the evolution of the sex chromosomes...
2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29804109/clitoromegaly-in-childhood-and-adolescence-behind-one-clinical-sign-a-clinical-sea
#17
Maria L Iezzi, Stefania Lasorella, Gaia Varriale, Luca Zagaroli, Michela Ambrosi, Alberto Verrotti
The clitoris is a highly complex organ whose structure has only been clarified in recent years through the use of modern imaging techniques. Clitoromegaly is an abnormal enlargement of this organ. It may be congenital or acquired and is usually due to an excess of androgens in fetal life, infancy, or adolescence. Obvious clitoromegaly in individuals with ambiguous genitalia is easily identifiable, whereas borderline conditions can pass unnoticed. Case reports of clitoromegaly with or without clinical or biochemical hyperandrogenism are quite numerous...
2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29804107/conserved-domains-in-the-transformer-protein-act-complementary-to-regulate-sex-specific-splicing-of-its-own-pre-mrna
#18
Arisa Tanaka, Fugaku Aoki, Masataka G Suzuki
The transformer (tra) gene, which is a female-determining master gene in the housefly Musca domestica, acts as a memory device for sex determination via its auto-regulatory function, i.e., through the contribution of the TRA protein to female-specific splicing of its own pre-mRNA. The TRA protein contains 4 small domains that are specifically conserved among TRA proteins (domains 1-4). Domain 2, also named TRA-CAM domain, is the most conserved, but its function remains unknown. To examine whether these domains are involved in the auto-regulatory function, we performed in vitro splicing assays using a tra minigene containing a partial genomic sequence of the M...
2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29439271/normative-basal-values-of-hormones-and-proteins-of-gonadal-and-adrenal-functions-from-birth-to-adulthood
#19
Flaminia Fanelli, Federico Baronio, Rita Ortolano, Marco Mezzullo, Alessandra Cassio, Uberto Pagotto, Antonio Balsamo
In clinical practice, it is fundamental to compare the results of hormonal examinations obtained in the laboratory with reliable reference values. This is particularly difficult when faced with rare conditions, such as disorders of sex development, where not routinely assayed peptide hormones as well as intermediate steroid metabolites are often needed and local reliable reference values are not available. There are considerable differences among techniques and assays used in clinical and research laboratories...
2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29414828/endoscopy-and-laparoscopy-in-disorders-of-sex-development
#20
Kianusch Tafazzoli, Lutz Wünsch, Marie Bouteleux, Judith Lindert, Tim Schulz, Wiebke Birnbaum, Louise Marshall, Olaf Hiort, Ludger Tüshaus
Endoscopy and laparoscopy are used for the assessment of disorders of sex development (DSD) and therapeutic interventions. Endoscopy (urethra-cystoscopy, vaginoscopy) is especially useful when vaginal or urethral surgery is planned. It is also valuable for the assessment of complications. Laparoscopy is used to identify sex ducts and gonads and to perform minimally invasive abdominal and pelvic surgery. This article reviews clinical indications, limitations, findings, and their reporting. It further discusses the impact of these findings on care in typical clinical situations...
2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
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