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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/29332065/a-novel-mutation-of-amhr2-in-two-siblings-with-persistent-m%C3%A3-llerian-duct-syndrome
#1
Aydilek D Çakır, Hande Turan, Hüseyin Onay, Haluk Emir, Senol Emre, Nil Comunoglu, Oya Ercan, Olcay Evliyaoglu
Persistent müllerian duct syndrome (PMDS) is characterized by the presence of müllerian duct derivatives in otherwise phenotypically normal males. It is caused in approximately 85% of the cases by mutations in the AMH gene or its type II receptor (AMHR2). We report on 2 brothers with normal external genitalia but high serum AMH levels. Sequence analysis of the AMHR2 gene in the 2 siblings revealed a novel homozygous missense mutation in exon 10 (p.V458L, c.1372G>T). PMDS is a rare condition, but it has to be considered in differential diagnosis of cryptorchidism with normal male genitalia...
January 13, 2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29332064/recurrent-intragenic-duplication-within-the-nr5a1-gene-and-severe-proximal-hypospadias
#2
Matthieu Peycelon, Lamisse Mansour-Hendili, Capucine Hyon, Nathalie Collot, Muriel Houang, Marie Legendre, Maud Chabaud, Marie-Dominique Bouvier, Georges Audry, Serge Amselem, Jean-Pierre Siffroi
A heterozygous intragenic duplication within the repeated area (CTGCAGCTG)×2 of the NR5A1 gene was found in a 15-year-old 46,XY DSD (disorders/differences of sex development) patient with micropenis and severe proximal hypospadias. This heterozygous duplication has already been described twice in boys with a similar phenotype, whereas a deletion of 3 amino acids at the same position in the protein SF-1 has been described in a 46,XX patient with primary ovarian failure and short stature. These data suggest that this region within the NR5A1 gene has an important role for SF-1 protein function in gonads and is a hotspot for intragenic rearrangements...
January 13, 2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29324451/aromatase-deficiency-due-to-a-homozygous-cyp19a1-mutation-in-a-46-xx-egyptian-patient-with-ambiguous-genitalia
#3
Inas Mazen, Ken McElreavey, Aya Elaidy, Alaa K Kamel, Mohamed S Abdel-Hamid
Aromatase deficiency (AD) is a very rare disorder resulting from mutations in the CYP19A1 gene encoding aromatase, a cytochrome P450 enzyme that plays a pivotal role in androgen conversion to estrogens. AD is inherited in an autosomal recessive trait, and to date only 35 cases have been described in the literature. Herein, we depict a new patient reared as a male, who presented at the age of 21 years with no palpable testis, hypoplastic scrotum, penis-like phallus (3 cm), and penoscrotal hypospadias. The patient was born to consanguineous parents, his karyotype was 46,XX, and SRY was negative...
January 12, 2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29320783/wt1-gene-mutation-p-r462w-in-a-46-xy-dsd-patient-from-egypt-with-gonadoblastoma-and-review-of-the-literature
#4
Inas Mazen, Heba Hassan, Alaa Kamel, Mona Mekkawy, Ken McElreavey, Mona Essawi
WT1 gene mutations have been described in 46,XY patients with ambiguous genitalia or complete gonadal dysgenesis with or without Wilms' tumor, nephropathy, gonadoblastoma, and other defects, e.g., cryptorchidism or hypospadias. p.R462W is a hot spot mutation in exon 9 and is the most common mutation in patients with Denys-Drash syndrome. However, in this study we report an Egyptian patient with a novel phenotype carrying the p.R462W mutation. We also review the heterogeneity of phenotypes of previously reported patients with the p...
January 11, 2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29262419/a-novel-homozygous-missense-mutation-in-the-fu-crd2-domain-of-the-r-spondin1-gene-associated-with-familial-46-xx-dsd
#5
Yassine Naasse, Amina Bakhchane, Hicham Charoute, Farida Jennane, Joelle Bignon-Topalovic, Abderrahim Malki, Anu Bashamboo, Abdelhamid Barakat, Hassan Rouba, Ken McElreavey
R-spondin proteins are secreted agonists of canonical WNT/β-catenin signaling. Homozygous RSPO1 mutations cause a syndrome of 46,XX disorder of sexual development (DSD), palmoplantar keratoderma (PPK), and predisposition to squamous cell carcinoma. We report exome sequencing data of two 46,XX siblings, one with testicular DSD and the other with suspected ovotesticular DSD. Both have PPK and hearing impairment and carried a novel homozygous mutation c.332G>A (p.Cys111Tyr) located in the highly conserved furin-like cysteine-rich domain-2 (FU-CRD2)...
December 21, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29248931/molecular-detection-and-incidence-of-y-chromosomal-material-in-patients-with-turner-syndrome
#6
Aleksandra Rojek, Monika Obara-Moszynska, Zofia Kolesinska, Barbara Rabska-Pietrzak, Marek Niedziela
The presence of a Y chromosome in patients with Turner syndrome (TS) is a risk factor for the development of gonadal tumor and/or virilization. With conventional cytogenetic analysis, some cells containing a Y chromosome can be missed. The aim of this study was to determine the presence and incidence of Y chromosome-derived material in TS patients using PCR and the markers SRY, DYZ1, DYZ3, DYS132, ZFY, and TSPY. Fifty-five TS patients (aged 5.5-26.75 years) were analyzed. A total of 17/55 (30.9%) were Y-positive, but only 7/17 had a Y chromosome in their karyotype and underwent gonadectomy...
December 16, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29241181/sex-determination-and-sex-chromosomes-in-amphibia
#7
Ikuo Miura
Sex chromosomes in most amphibians are homomorphic (undifferentiated) in both sexes and are characterized by frequent turnover. This is in sharp contrast to sex chromosomes in 2 major vertebrate groups, the mammals and birds, where they are heteromorphic in one sex and are highly conserved. Sex-determining mechanisms in anuran amphibians, particularly in relation to the turnover of sex-determining genes and sex chromosomes, are summarized and their evolution is discussed.
December 15, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29237170/functional-impact-of-novel-androgen-receptor-mutations-on-the-clinical-manifestation-of-androgen-insensitivity-syndrome
#8
Reginaldo J Petroli, Olaf Hiort, Dagmar Struve, Julia K Gesing, Fernanda C Soardi, Angela M Spínola-Castro, Karla Melo, Ivo J Prado Arnhold, Andréa T Maciel-Guerra, Gil Guerra-Junior, Ralf Werner, Maricilda P de Mello
Androgens are responsible for the development and maintenance of male sex characteristics. Dysfunctions in androgen action due to mutations in the androgen receptor gene (AR) can lead to androgen insensitivity syndrome (AIS) that can be classified as mild (MAIS), partial (PAIS), or complete (CAIS). We have analyzed functional effects of p.Ser760Thr, p.Leu831Phe, p.Ile899Phe, p.Leu769Val, and p.Pro905Arg mutations and the combination p.Gln799Glu + p.Cys807Phe that were identified in patients with PAIS or CAIS...
December 14, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29197878/a-rare-case-of-embryonal-carcinoma-in-a-patient-with-turner-syndrome-without-y-chromosomal-material-but-mutations-in-kit-akt1-and-znf358-demonstrated-using-exome-sequencing
#9
Claus H Gravholt, Ole L Dollerup, Lone Duval, Else Mejlgaard, Katrine Stribolt, Søren Vang, Britt E Laursen, Michael Knudsen, Kasper Thorsen, Remko Hersmus, Leendert H J Looijenga, Kirstine Stochholm
Gonadoblastoma and malignant transformations thereof can occur in females with Turner syndrome (TS) and Y chromosomal material. However, in females with TS and no Y chromosomal material, this is rarely seen. We report a female with an apparent 45,X karyotype (in blood and tumor) who was diagnosed with a metastatic embryonal carcinoma. Exome sequencing of blood and the tumor was done, and no Y chromosomal material was detected, while predicted deleterious mutations in KIT (likely driver), AKT1, and ZNF358 were identified in the tumor...
December 2, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29190620/four-novel-nr5a1-mutations-in-46-xy-gonadal-dysgenesis-patients-including-frameshift-mutations-with-altered-subcellular-sf-1-localization
#10
Jan Rehkämper, Ann-Christin Tewes, Judit Horvath, Gerd Scherer, Peter Wieacker, Susanne Ledig
46,XY gonadal dysgenesis (46,XY GD) is a disorder of sexual development caused by mutations in genes involved in early gonadal development (bipotential gonads) and testis differentiation. In 46,XY GD individuals, mutations of the SRY gene are detected most frequently, followed by mutations in the NR5A1 (SF-1) gene, but in a lot of cases, the underlying molecular mechanism remains elusive. In this study, we retrospectively performed sequence analyses of the NR5A1 (SF-1) gene in 84 patients with complete, partial, and syndromic forms of 46,XY GD...
December 1, 2017: 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
#11
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
#12
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
#13
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
#14
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
#15
(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
#16
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
#17
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
#18
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
#19
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
#20
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
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