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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/29145209/methodological-issues-for-psychological-evaluation-across-the-lifespan-of-individuals-with-a-difference-disorder-of-sex-development
#1
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...
November 17, 2017: 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
#2
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...
November 17, 2017: 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
#3
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...
November 3, 2017: 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
#4
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...
November 2, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29055947/preface
#5
(no author information available yet)
No abstract text is available yet for this article.
October 21, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28926831/multiparameter-investigation-of-a-46-xx-46-xy-tetragametic-chimeric-phenotypical-male-patient-with-bilateral-scrotal-ovotestes-and-ovulatory-activity
#6
Yolande van Bever, Katja P Wolffenbuttel, Hennie T Brüggenwirth, Eric Blom, Annelies de Klein, Bert H J Eussen, Florijn van der Windt, Sabine E Hannema, Arianne B Dessens, Lambert C J Dorssers, Katharina Biermann, Remko Hersmus, Yolanda B de Rijke, Leendert H J Looijenga
We report on an adult male initially presenting with gynecomastia and a painless scrotal mass without additional genital anomalies. Hyperpigmentation of the skin following the Blaschko's lines was identified. He underwent gonadectomy because of suspected cancer. Histological analyses revealed an ovotestis with ovulatory activity confirmed by immunohistochemistry with multiple markers. Karyotyping of cultured peripheral blood lymphocytes and a buccal smear revealed a 46,XX/46,XY chimeric constitution with different percentages...
September 20, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28898878/development-of-laboratory-investigations-in-disorders-of-sex-development
#7
Laura Audí, Núria Camats, Mónica Fernández-Cancio, María L Granada
Scientific knowledge to understand the biological basis of sex development was prompted by the observation of variants different from the 2 most frequent body types, and this became one of the fields first studied by modern pediatric endocrinology. The clinical observation was supported by professionals working in different areas of laboratory sciences which led to the description of adrenal and gonadal steroidogenesis, the enzymes involved, and the different deficiencies. Steroid hormone measurements evolved from colorimetry to radioimmunoassay (RIA) and automated immunoassays, although gas and liquid chromatography coupled to mass spectrometry are now the gold standard techniques for steroid measurements...
September 13, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28850950/importance-of-serum-testicular-protein-hormone-measurement-in-the-assessment-of-disorders-of-sex-development
#8
Analía V Freire, Romina P Grinspon, Rodolfo A Rey
Commonly known for testosterone secretion, the testes also produce the protein hormones anti-müllerian hormone (AMH), inhibin B, and insulin-like factor 3 (INSL3). AMH and inhibin B are secreted by Sertoli cells, whereas INSL3 is a Leydig cell product. AMH is involved in fetal sex differentiation and induces the regression of the anlagen of the uterus and fallopian tubes. INSL3 participates in fetal testicular descent. Serum testicular protein hormone assessment can be very useful and complementary to testosterone measurements in patients with DSD...
August 30, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28848222/effects-of-incubation-temperature-on-the-expression-of-sex-related-genes-in-the-chinese-pond-turtle-mauremys-reevesii
#9
Wen-Qi Tang, Yi Mu, Nicole Valenzuela, Wei-Guo Du
Despite widespread temperature-dependent sex determination (TSD) in reptiles, it is still unclear how the molecular network responds to temperature variation and drives the sexual fate. Profiling of sex-related genes is the first step in understanding the sex determination system in reptiles. In this study, we cloned the full-length coding sequences of Cyp19a1, Foxl2, Rspo1, Sf1, and Sox9 in an Asian freshwater turtle (Mauremys reevesii) with TSD and identified the expression patterns of these genes and Dmrt1 at different incubation temperatures to understand their roles in urogenital development...
August 23, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28848186/imaging-techniques-in-the-diagnostic-journey-of-disorders-of-sex-development
#10
Gil Guerra-Junior, Kleber C Andrade, Irene H K Barcelos, Andréa T Maciel-Guerra
Various disorders of sex development (DSD) result in an abnormal development of genitalia that may be recognized at prenatal ultrasonography, immediately after birth, or later in life. Because of the complex nature of DSD, the participation of a multidisciplinary team, including imaging or radiology technologists, is required to address the patient's medical needs. The first steps in the management of DSD are sex evaluation, which is based on factors such as the genotype, the presence, location, and appearance of reproductive organs, the potential for fertility, and the cultural background and beliefs of the patient's family...
August 22, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28848128/germline-development-of-genetically-female-nile-tilapia-oreochromis-niloticus-reared-under-different-temperature-regimes
#11
Aulidya N Habibah, Frank Pfennig, Joerg Wilting, Wolfgang Holtz, Gabriele Hoerstgen-Schwark, Stephan Wessels
In teleosts, elevated temperature during embryogenesis can act on germline cell development, which in turn plays a role for sexual fate. In Nile tilapia, a species with high-temperature-induced masculinization, little is known about the effects of increased temperature on gonadal development in non-masculinized females. The aim of the present work was to investigate persistent effects on the germline of genetically female (XX) Nile tilapia reared at normal (28°C) or elevated temperature (36°C) during the critical time of gonadal sex differentiation at 10 to 20 days post fertilization...
2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28848109/testicular-xx-sry-negative-disorder-of-sex-development-in-cat
#12
Lisa De Lorenzi, Barbara Banco, Carlo Previderè, Stefania Bonacina, Stefano Romagnoli, Valeria Grieco, Pietro Parma
In most mammals, the sex of an individual is genetically determined by the Y chromosome-specific SRY gene. The presence of at least one functional copy of this gene determines the development of the primordial gonads into testes. However, testicular tissue does develop in the absence of SRY, albeit rarely, which is the case in testicular XX (SRY-negative) disorder of sex development (DSD). This condition is very important for studying the process of sexual determination because it allows the identification of genetic factors that are able to promote the male developmental pathway in the absence of SRY and thereby enables a better understanding of this process...
2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28787711/functional-analysis-of-mutations-at-codon-127-of-the-sry-gene-associated-with-46-xy-complete-gonadal-dysgenesis
#13
Asma Tajouri, Dorsaf Ben Gaied, Syrine Hizem, Salma Boujelben, Faouzi Maazoul, Ridha M'rad, Francis Poulat, Maher Kharrat
Complete gonadal dysgenesis (CGD) is characterized by an incomplete differentiation of the genital organs in a patient with a 46,XY karyotype. It is induced by mutations in the sex-determining region Y (SRY) gene which plays a key role in testis-determining pathways. The aim of this study was to investigate the possible pathogenic nature of a novel SRY mutation (p.Y127H) identified in a 46,XY female patient. To determine the effect of this mutation on SRY function, we studied its impact on DNA interaction by electrophoretic mobility shift assays...
2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28746933/androgen-regulates-dimorphic-f-actin-assemblies-in-the-genital-organogenesis
#14
Liqing Liu, Kentaro Suzuki, Eunice Chun, Aki Murashima, Yuki Sato, Naomi Nakagata, Toshihiko Fujimori, Shigenobu Yonemura, Wanzhong He, Gen Yamada
Impaired androgen activity induces defective sexual differentiation of the male reproductive tract, including hypospadias, an abnormal formation of the penile urethra. Androgen signaling in the urethral mesenchyme cells (UMCs) plays essential roles in driving dimorphic urethral development. However, cellular events for sexual differentiation remain virtually unknown. In this study, histological analyses, fluorescent staining, and transmission electron microscopy (TEM) were performed to reveal the cellular dimorphisms of UMCs...
2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28719904/gonadectomy-in-complete-androgen-insensitivity-syndrome-why-and-when
#15
Ulla Döhnert, Lutz Wünsch, Olaf Hiort
Prophylactic gonadectomy has been recommended in complete androgen insensitivity syndrome (CAIS) because of an increased risk for the development of malignant germ cell tumors in the intra-abdominal gonads. No reliable screening parameters are available to detect early (pre-)malignant changes. Because the tumor risk before puberty is very low, the timing of gonadectomy has been postponed to allow spontaneous puberty and involvement of the patients in important decisions affecting their body and health. Gonadectomy after puberty is still discussed controversially...
2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28719895/update-on-the-pathophysiology-and-risk-factors-for-the-development-of-malignant-testicular-germ-cell-tumors-in-complete-androgen-insensitivity-syndrome
#16
Martine Cools, Leendert Looijenga
Prophylactic gonadectomy in young adult women with complete androgen insensitivity syndrome (CAIS) to avoid development of an invasive testicular germ cell tumor (TGCT) is currently advised in most centers. However, women with CAIS increasingly question the need of this procedure. In order to provide optimal counseling and follow-up of these women, insight in the mechanisms underlying TGCT development in androgen insensitivity syndrome (AIS), data regarding the incidence of TGCT in AIS adults specifically, and an overview of existing and novel screening tools for in situ and invasive neoplastic lesions are crucial...
2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28715798/bone-mineral-density-in-women-living-with-complete-androgen-insensitivity-syndrome-and-intact-testes-or-removed-gonads
#17
Silvano Bertelloni, Maria C Meriggiola, Elenora Dati, Antonio Balsamo, Giampiero I Baroncelli
Complete androgen insensitivity syndrome (CAIS) is due to complete androgen resistance in androgen-dependent tissues. Since androgens are involved in growth, development, and mass maintenance of the skeleton, bone health may be a relevant clinical issue for improving quality of life of women living with CAIS. Bone mineral density (BMD) in women with CAIS and intact gonads has been reported in a normal range, although exceptions are known showing a low BMD mainly at the lumbar level. In women with CAIS and removed gonads, BMD is usually reduced at both the lumbar spine and femoral neck...
2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28662518/effects-of-n-nitrosodiethylamine-a-potent-carcinogen-on-sexual-development-gametogenesis-and-oocyte-maturation
#18
Reshma Nair U, Anju C Victor, Vinod Paul, Bindhu Paul-Prasanth
N-Nitrosodiethylamine (DEN), a well-known hepatocarcinogen, is found in certain food products as such or as a metabolic byproduct. This study investigated the effects of DEN on sexual development, gametogenesis, and oocyte maturation in Japanese medaka (Oryzias latipes). DEN reduced the germ cell number dose-dependently during early stages of sexual differentiation in XX larvae, resulting in underdeveloped ovaries in adulthood at low doses. This effect was sex-specific as no such changes were seen in XY larvae...
2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28609774/gonadal-surgery-in-complete-androgen-insensitivity-syndrome-a-debate
#19
Silvano Bertelloni
No abstract text is available yet for this article.
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
#20
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...
2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
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