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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/28609774/gonadal-surgery-in-complete-androgen-insensitivity-syndrome-a-debate
#1
Silvano Bertelloni
No abstract text is available yet for this article.
June 14, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28591755/a-novel-homozygous-missense-fshr-variant-associated-with-hypergonadotropic-hypogonadism-in-two-siblings-from-a-brazilian-family
#2
Monica M França, Antonio M Lerario, Mariana F A Funari, Mirian Y Nishi, Amanda M Narcizo, Maricilda P de Mello, Gil Guerra-Junior, Andrea T Maciel-Guerra, Berenice B Mendonça
Hypergonadotropic hypogonadism (HH) is defined by increased gonadotropin levels in men and women. Primary ovarian failure (POF) is a form of female infertility characterized by amenorrhea, hypoestrogenism, and elevated gonadotropin levels in women under the age of 40 years. Although several genes have been associated with POF, its causative genes remain to be identified. Here, we used whole-exome sequencing (WES) to study a consanguineous family with a 46,XX girl and a 46,XY man affected by HH. All exons of both siblings and their parents were captured and massively sequenced by WES, and the candidate variant was confirmed by Sanger sequencing...
June 8, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28528332/the-persistent-m%C3%A3-llerian-duct-syndrome-an-update-based-upon-a-personal-experience-of-157-cases
#3
Jean-Yves Picard, Richard L Cate, Chrystèle Racine, Nathalie Josso
Male sex differentiation is driven by 2 hormones, testosterone and anti-müllerian hormone (AMH), responsible for the regression of müllerian ducts in male fetuses. Mutations inactivating AMH or its receptor AMHRII lead to the persistent müllerian duct syndrome (PMDS) in otherwise normally virilized 46,XY males. Our objective was to review the clinical, anatomical, and molecular features of PMDS based upon a review of the literature and upon 157 personal cases. Three clinical presentations exist: bilateral cryptorchidism, unilateral cryptorchidism with contralateral hernia, and transverse testicular ectopia...
May 20, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28505621/gnrha-treatment-of-cryptorchid-boys-affects-genes-involved-in-hormonal-control-of-the-hpg-axis-and-fertility
#4
Faruk Hadziselimovic, Katharina Gegenschatz-Schmid, Gilvydas Verkauskas, Philippe Demougin, Vytautas Bilius, Darius Dasevicius, Michael B Stadler
The gonadotropin-releasing hormone agonist (GnRHa; Buserelin) rescues fertility during adulthood in the majority of high infertility risk cryptorchid boys presenting with defective mini-puberty. However, the molecular events governing this effect are not understood. We report the outcome of an RNA profiling analysis of testicular biopsies from 4 operated patients who were treated with GnRHa for 6 months versus 3 operated controls who were not treated. GnRHa induces a significant transcriptional response, including protein-coding genes involved in pituitary development, the hypothalamic-pituitary-gonadal axis, and testosterone synthesis...
May 16, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28472794/prostaglandin-d2-regulates-sox9-nuclear-translocation-during-gonadal-sex-determination-in-tammar-wallaby-macropus-eugenii
#5
Yu Chen, Hongshi Yu, Andrew J Pask, Geoff Shaw, Marilyn B Renfree
Sex determination and sexual differentiation pathways are highly conserved between marsupials and eutherians. There are 2 different pathways of prostaglandin D2 (PGD2) synthesis: prostaglandin D synthase (PTGDS) and haematopoietic prostaglandin D synthase (HPGDS). PGD2 regulates the subcellular localization of SOX9 during gonadal sexual differentiation. To investigate the function of PGD2 in the tammar gonad, we cultured undifferentiated male gonads in the presence of the HPGDS inhibitor HQL-79 and female gonads with exogenous PGD2 to mimic activation of the PTGDS-PGD2 pathway...
May 5, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28445889/genetic-polymorphisms-in-aromatase-cyp19a1-are-not-associated-with-gonadal-phenotypes-in-red-eared-slider-turtle-hatchlings-developed-at-a-pivotal-temperature
#6
Yuiko Matsumoto, David Crews
Embryonic gonad sex in many reptilian species is determined by the incubation temperature of the egg, a differentiation process known as temperature-dependent sex determination (TSD). Incubation at the pivotal temperature (PvT) results in approximately an equal number of offspring of both sexes. We investigated the potential contribution of genetic variations that drives the gonadal differentiation into testes or ovaries under this temperature in the red-eared slider turtle (Trachemys scripta). Four male and 4 female hatchlings of eggs that had been incubated at the PvT were examined for polymorphisms at an approximately 23-kb region of the aromatase (cyp19a1) gene...
April 27, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28456808/heterozygous-nonsense-mutation-in-the-androgen-receptor-gene-associated-with-partial-androgen-insensitivity-syndrome-in-an-individual-with-47-xxy-karyotype
#7
Rafael L Batista, Andresa S Rodrigues, Mirian Y Nishi, Alina C R Feitosa, Nathália L R A Gomes, José Antonia F Junior, Sorahia Domenice, Elaine M F Costa, Berenice B de Mendonça
There are only 2 patients with 47,XXY karyotype and androgen receptor (AR) gene mutation reported in the literature, and both are diagnosed as complete androgen insensitivity syndrome (CAIS). We report a 22-year-old female with 47,XXY karyotype and atypical external genitalia. Sequencing of AR revealed the heterozygous p.Asn849Lys*32 mutation, and extensive X chromosome microsatellite analysis showed homozygosity for Xp and heterozygosity for Xq, suggesting partial X maternal isodisomy. Partial androgen insensitivity syndrome (PAIS) developed in this case, probably because of the presence of the heterozygous AR mutation and random X- inactivation of the healthy allele...
2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28376482/discordant-genotypic-sex-and-phenotype-variations-in-two-spanish-siblings-with-17%C3%AE-hydroxylase-17-20-lyase-deficiency-carrying-the-most-prevalent-mutated-cyp17a1-alleles-of-brazilian-patients
#8
Mónica Fernández-Cancio, Emilio García-García, Carmen González-Cejudo, María-Angeles Martínez-Maestre, Miguel-Angel Mangas-Cruz, Gil Guerra-Junior, Maricilda Pandi de Mello, Ivo J P Arnhold, Mirian Y Nishi, Berenice Bilharinho Mendonça, Elena García-Arumí, Laura Audí, Eduardo Tizzano, Antonio Carrascosa
17α-hydroxylase/17,20-lyase deficiency is a rare form of congenital adrenal hyperplasia caused by mutations in CYP17A1. Two phenotypic female sisters, aged 17 and 15 years and with 46,XY and 46,XX karyotypes, respectively, presented with primary amenorrhea and absent secondary sexual characteristics. The elder sib also presented with high blood pressure. Both patients had elevated levels of ACTH, gonadotropins, progesterone, corticosterone, and deoxycorticosterone, and reduced levels of estradiol, testosterone, androstenedione, 17-OH-P, DHEA-S, cortisol, aldosterone, and renin activity...
2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28365713/methylation-patterns-of-sox3-sox9-and-wnt4-genes-in-gonads-of-dogs-with-xx-sry-negative-disorder-of-sexual-development
#9
Sylwia Salamon, Krzysztof Flisikowski, Marek Switonski
Ovotesticular or testicular disorder of sexual development in dogs with female karyotype and lack of SRY (XX DSD) is a common sexual anomaly diagnosed in numerous breeds. The molecular background, however, remains unclear, and epigenetic mechanisms, including DNA methylation, have not been studied. The aim of our study was comparative methylation analysis of CpG islands in promoters of candidate genes for XX DSD: SOX9, SOX3, and WNT4. Methylation studies were performed on DNA extracted from formalin-fixed/paraffin-embedded or frozen gonads from 2 dogs with ovotesticular and 2 dogs with testicular XX DSD as well as control females (n = 4) and males (n = 2)...
2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28273663/sex-specific-transcript-diversity-in-the-fly-head-is-established-during-pupal-stages-and-adulthood-and-is-largely-independent-of-the-mating-process-and-the-germline
#10
Carmen Mohr, Sarah Kleiner, Marco Blanchette, George Pyrowolakis, Britta Hartmann
Alternative splicing (AS), the process which generates multiple RNA and protein isoforms from a single pre-mRNA, greatly contributes to transcript diversity and compensates for the fact that the gene number does not scale with organismal complexity. A number of genomic approaches have established that the extent of AS is much higher than previously expected, raising questions on its spatio-temporal regulation and function. In the present study, we address AS in the context of sex-specific neuronal development in the model Drosophila melanogaster...
2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28214852/the-clinical-manifestation-and-genetic-evaluation-in-patients-with-45-x-46-xy-mosaicism
#11
Qinghua Wu, Cong Wang, Huirong Shi, Xiangdong Kong, Shumin Ren, Miao Jiang
45,X/46,XY mosaicism is a rare chromosomal abnormality and probably underdiagnosed. Although clinical and genetic analyses have been performed in some disorders of sexual development, there have been few studies focusing on the phenotype and genetic details of 45,X/46,XY mosaicism, especially in the Chinese population. The aim of this study was to describe the experience of our service in relation to 16 cases with 45,X/46,XY mosaicism. The age at the first evaluation of the patients ranged from 43 days to 30 years...
2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28196369/leveraging-online-resources-to-prioritize-candidate-genes-for-functional-analyses-using-the-fetal-testis-as-a-test-case
#12
Kathryn S McClelland, Humphrey H-C Yao
With each new microarray or RNA-seq experiment, massive quantities of transcriptomic information are generated with the purpose to produce a list of candidate genes for functional analyses. Yet an effective strategy remains elusive to prioritize the genes on these candidate lists. In this review, we outline a prioritizing strategy by taking a step back from the bench and leveraging the rich range of public databases. This in silico approach provides an economical, less biased, and more effective solution. We discuss the publicly available online resources that can be used to answer a range of questions about a gene...
2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28192783/androgen-insensitivity-syndrome-in-a-family-of-warmblood-horses-caused-by-a-25-bp-deletion-of-the-dna-binding-domain-of-the-androgen-receptor-gene
#13
G Eastman Welsford, Rikke Munk, Daniel A F Villagómez, Poul Hyttel, W Allan King, Tamas Revay
Testicular feminization, an earlier term coined for describing a syndrome resulting from failure of masculinization of target organs by androgen secretions during embryo development, has been well documented not only in humans but also in the domestic horse. The pathology, actually referred to as androgen insensitivity syndrome (AIS), has been proposed to follow an X-linked recessive pattern of inheritance in some horse breeds already investigated. Affected individuals are characterized by a female phenotype but with a stallion genotype of 64,XY SRY+ constitution...
2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28190008/two-moroccan-sisters-presenting-with-a-severe-salt-wasting-form-of-congenital-adrenal-hyperplasia-but-normal-female-genitalia
#14
Rosa T Scaramuzzo, Soara Menabò, Lilia Baldazzi, Francesca Moscuzza, Alessandro Saba, Antonio Balsamo, Antonio Boldrini, Paolo Ghirri
We report the case of 2 sisters (46,XX) born from consanguineous Moroccan parents. Both sisters had normal female genitalia, but within 2 weeks after birth, they presented with a severe salt-wasting crisis. Hormonal investigations suggested the diagnosis of congenital adrenal hyperplasia, which was confirmed by subsequent molecular analysis to be caused by 3β-hydroxysteroid dehydrogenase type 2 deficiency. Here, we discuss the main features like onset, possible complications, genetics, and replacement therapy of this rare disease...
2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28142151/novel-amh-and-amhr2-mutations-in-two-egyptian-families-with-persistent-m%C3%A3-llerian-duct-syndrome
#15
Inas Mazen, Mona El-Gammal, Ken McElreavey, Aya Elaidy, Mohamed S Abdel-Hamid
Anti-müllerian hormone (AMH) is produced by Sertoli cells and signals through 2 transmembrane receptors (AMHR), specific types I and II, leading to regression of müllerian ducts during fetal male sex differentiation. Mutations in AMH and AMHR2 lead to the persistence of müllerian ducts in males which is transmitted in a recessive pattern. Here, we report 2 Egyptian DSD (disorder of sex development) patients reared as males who presented with bilateral cryptorchidism and otherwise normal male external genitalia and who both had a 46,XY karyotype...
2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28110336/new-territory-for-an-old-disease-5-alpha-reductase-type-2-deficiency-in-bulgaria
#16
Silvia Andonova, Ralitsa Robeva, Radoslava Vazharova, Susanne Ledig, Liliana Grozdanova, Elisaveta Stefanova, Irena Bradinova, Tihomir Todorov, George Hadjidekov, Milko Sirakov, Peter Wieacker, Philip Kumanov, Alexey Savov
Disorders/differences of sexual development (DSD) are a group of conditions, some of which can be clinically indistinguishable mainly due to their phenotypic variability. Defining the molecular basis of their wide spectrum is still in progress. The diagnosis of 5-alpha-reductase type 2 (5α-reductase-2) deficiency is difficult especially in newborns and pre-pubertal individuals, and as a result its frequency might be underestimated. In the present study, we describe the clinical characteristics and molecular defects in 3 nonrelated 5α-reductase-2 deficiency patients of Bulgarian descent...
2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28081536/wt1-haploinsufficiency-supports-milder-renal-manifestation-in-two-patients-with-denys-drash-syndrome
#17
Mara S Guaragna, Juliana G Ribeiro de Andrade, Bárbara de Freitas Carli, Vera M S Belangero, Andréa T Maciel-Guerra, Gil Guerra-Júnior, Maricilda P de Mello
Denys-Drash syndrome (DDS) is characterized by nephropathy, genital abnormalities, and predisposition to Wilms' tumor. DDS patients usually present heterozygous de novo germline WT1 mutations. The WT1 gene comprises 10 exons encoding the N-terminal transactivation and the C-terminal DNA-binding regions. Two unrelated patients with genital ambiguity and Wilms' tumor were analyzed by sequencing of the WT1 gene, and 3 mutations in exon 1 were identified of which 2 are novel. Patient 1 carried a c.555delC mutation that causes a frameshift and a premature stop codon...
2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/27974725/azoospermia-and-testicular-hypoplasia-in-a-boar-carrier-of-a-novel-y-autosome-translocation
#18
Daniel A F Villagómez, Tamas Revay, Brendan Donaldson, Samira Rezaei, Alain Pinton, Manuel Palomino, Awang Junaidi, Ali Honaramooz, W Allan King
Few sex-autosome chromosome abnormalities have been documented in domestic animal species. In humans, Y-autosome chromosome abnormalities may occur at a rate of 1/2,000 live births, whereas in the domestic pig only 2 Y-autosome reciprocal translocations have been previously described. During a routine cytogenetic screening of young boars, we identified a new Y-autosome translocation carrier, which after puberty showed semen devoid of sperm and testicular hypoplasia with spermatogenesis arrest. Whole chromosome painting by FISH analysis corroborated the reciprocal nature of the chromosomal exchanges between the Y chromosome and SSC13...
2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/27960177/alterations-in-fetal-leydig-cell-gene-expression-during-fetal-and-adult-development
#19
Kanako Miyabayashi, Yuichi Shima, Miki Inoue, Tetsuya Sato, Takashi Baba, Yasuyuki Ohkawa, Mikita Suyama, Ken-Ichirou Morohashi
Fetal Leydig cells (FLCs) and adult Leydig cells (ALCs) develop in the mammalian prenatal and postnatal testes, respectively. In mice, FLCs emerge in the interstitial space of the testis as early as embryonic day 12.5 and thereafter increase in number during the fetal stage. We previously established a transgenic mouse line in which FLCs are labeled with EGFP and demonstrated that the EGFP-labeled FLCs were present even in adult testes. However, the characteristics of FLCs during postnatal stages remained unclear...
2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/27915330/mechanism-of-sex-determination-in-humans-insights-from-disorders-of-sex-development
#20
Anu Bashamboo, Ken McElreavey
In this review we will consider the gene mutations responsible for the non-syndromic forms of disorders of sex development (DSD) and how recent genetic findings are providing insights into the mechanism of sex determination. High-throughput sequencing technologies are having a major impact on our understanding of the genetic basis of rare human disorders, including DSD. The study of human DSD is progressively revealing subtle differences in the genetics of the sex-determining system between the mouse and the human...
2016: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
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