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

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https://www.readbyqxmd.com/read/30007989/clinical-and-cytogenetic-study-of-egyptian-patients-with-sex-chromosome-disorders-of-sex-development
#1
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
#2
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
#3
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
#4
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
#5
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...
June 13, 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
#6
Faruk Hadziselimovic
No abstract text is available yet for this article.
June 13, 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
#7
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...
June 8, 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
#8
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)...
June 8, 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
#9
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...
June 8, 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
#10
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...
May 26, 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
#11
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...
May 26, 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
#12
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
#13
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
https://www.readbyqxmd.com/read/29408815/virtual-networks-for-exchanging-information-and-biomaterials-future-directions
#14
Mariam Kourime, S Faisal Ahmed
Clinical and research networks for rare conditions are increasingly common nowadays. Given the rarity of many such conditions, there is a need to cover more conditions, yet there is also a need to sustain and improve the quality and effectiveness of existing networks. This review will discuss the qualities that are required by a virtual network using some international clinical and research networks that are currently active in the field of rare endocrine conditions affecting sex and adrenal development as exemplars...
2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29402865/concluding-remarks-from-bench-to-bed
#15
Olaf Hiort
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/29339667/improving-laboratory-assessment-in-disorders-of-sex-development-through-a-multidisciplinary-network
#16
Sabine E Hannema, Yolanda B de Rijke
The aim of the European Reference Network for Rare Endocrine Disorders (Endo-ERN) is to ensure equal access to high-quality care for all those affected by a rare endocrine condition across Europe, such as a disorder/difference of sex development (DSD), both for children and adults. Although differences in resources, health care systems, and health insurances between the European countries are challenging and require political action, a European laboratory network within Endo-ERN could improve the diagnostic process in individuals with DSD, building on the work done by previous European collaborations such as the COST action DSDnet...
2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29145209/methodological-issues-for-psychological-evaluation-across-the-lifespan-of-individuals-with-a-difference-disorder-of-sex-development
#17
Franco D'Alberton, Sofia Vissani, Chiara Ferracuti, Vickie Pasterski
The aim of the current report is to provide guidance relevant to psychological evaluation for healthcare providers and researchers working in the field of disorders of sexual development (DSD). In doing so, we give careful consideration to methodological issues and limitations that may influence the utility of investigations. For example, rarity and heterogeneity of DSD conditions restrict sample sizes when conducting evaluations aimed at establishing condition-specific psychological outcomes. At the same time, the potential for stigmatization by virtue of conducting psychological evaluations is particularly high given the fundamental contribution of sex and gender to one's sense of self and integrity...
2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29145200/the-role-of-copy-number-variants-in-disorders-of-sex-development
#18
Brittany Croft, Thomas Ohnesorg, Andrew H Sinclair
Despite considerable research effort and significant advances in sequencing technologies, the majority of disorders of sex development (DSD) cases still lack a molecular genetic diagnosis. While coding variants have been discovered in known and candidate DSD genes, comparatively little is known about copy number variations (CNVs) affecting both coding and noncoding regions. Due to rapidly falling costs of whole genome sequencing, many more CNVs in individuals with DSD will be identified. These CNVs may explain a significant number of hitherto undiagnosed cases of DSD...
2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29131109/histological-assessment-of-gonads-in-dsd-relevance-for-clinical-management
#19
Johannes A Spoor, J Wolter Oosterhuis, Remko Hersmus, Katharina Biermann, Katja P Wolffenbuttel, Martine Cools, Zainab Kazmi, Syed F Ahmed, Leendert H J Looijenga
Malignant gonadal germ cell tumors, referred to as germ cell cancers (GCC), occur with increased frequency in individuals who have specific types of differences (disorders) of sex development (DSD). Recent population-based studies have identified new environmental and genetic risk factors that have led to a 'genvironment' hypothesis, which may potentially be helpful in risk assessment in DSD-related GCC. In DSD, the malignancy risk is highly heterogeneous, but recent studies allow now to discriminate between high- and low-risk conditions...
2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29131089/human-chorionic-gonadotropin-test-old-uncertainties-new-perspectives-and-value-in-46-xy-disorders-of-sex-development
#20
Silvano Bertelloni, Gianni Russo, Giampiero I Baroncelli
The human chorionic gonadotropin (hCG) test represents a key step in assessing Leydig cell function in prepubertal males, but differences in terms of hCG doses, number of injections, and sequence of blood drawing are published in the literature, showing poor standardization. The few available data in healthy boys are summarized here. A recombinant hCG (rhCG) formulation might permit overcoming some controversies as well as avoid the potential biological risk related to the injection of extractive hormones. Studies in humans are scarce, but they indicate that 250 µg rhCG in a single dose may represent a useful scheme for the dynamic evaluation of Leydig cell function in children as well as in adults...
2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
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