Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation RSS feedThis is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Gene Expression in the Supporting Cells at the Onset of Meiosis in Rabbit Gonads.
nt-Larios H Abstract Subsequent to somatic gonadal sexual differentiation, germ cells enter meiosis or mitotic arrest in the ovary or testis, respectively. Among mice, these processes occur almost synchronically in fetal gonads and depend, among other factors, on the levels of retinoic acid (RA). In contrast to those in mice, rabbit germ cells enter meiosis or mitotic arrest after birth and coexist with proliferating germ cells. Here, we studied the somatic cell context in which germ cells enter meiosis or mitotic arrest in the rabbit. Using confocal immunofluorescence and real-time PCR, we studied the expression ...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - August 16, 2019 Category: Genetics & Stem Cells Authors: Díaz-Hernández V, Caldelas I, Merchant-Larios H Tags: Sex Dev Source Type: research

45,X/46,X,i(Yp): Importance of Assessment and Support during Puberty and Adolescence.
We describe a detailed evolution of puberty in a boy with 45,X/46,X,i(Yp). Array CGH found 2 cell lines, one with i(Yp) and the other with monosomy X. Genetic analysis of currently known genes involved in Kallmann syndrome/normosomic central hypogonadotropic hypogonadism showed no abnormality. The patient presented with a pubertal course suggestive of a delayed puberty with gynecomastia, reduced growth rate, and infertility that need testosterone treatment to induce the appearance of the secondary sex characteristics. This patient shows the potential effects of i(Yp) and emphasizes the importance of appropriate management ...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - July 3, 2019 Category: Genetics & Stem Cells Authors: Gaudino R, Maines E, Guizzardi F, Vezzoli V, Krausz C, Cavarzere P, Piacentini G, Antoniazzi F, Bonomi M Tags: Sex Dev Source Type: research

A Search for Sex-Linked Loci in the Agamid Lizard, Calotes versicolor.
Abstract The Indian garden lizard, Calotes versicolor, lacks cytologically recognizable sex chromosomes, and its mechanism of sex determination is unclear. We evaluated genotype-to-sex-phenotype association using RAD-seq in wild-caught males and females, 30 of each sex. Of 210,736 unique, 96-nt long RAD-tags, 48% contained polymorphisms, 23% of which were present in at least 40 of 60 individuals. Twenty one RAD-tags neared, but none achieved, the inclusion criteria for sex enrichment, as expected if C. versicolor lacks highly differentiated sex chromosomes. Three RAD-tags with alleles most strongly associated with...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - June 28, 2019 Category: Genetics & Stem Cells Authors: Wilson CA, Priyanka, Titus T, Batzel P, Postlethwait JH, Raman R Tags: Sex Dev Source Type: research

Polymorphisms of MAMLD1, SRD5A2, and AR Candidate Genes in Seven Dogs (78,XY; SRY-Positive) Affected by Hypospadias or Cryptorchidism.
In this study, we analyzed the entire coding sequence of these genes in 7 dogs (78,XY) with ambiguous external genitalia (hypospadias, cryptorchidism, bifid scrotum, or rudimentary penis). The most common disorder was hypospadias (6 cases), followed by cryptorchidism (4 cases). The co-occurrence of both abnormalities was observed in 3 dogs. Polymorphisms were found in MAMLD1 (3 SNPs), SRD5A2 (5 SNPs), and AR (2 STRs and 1 SNP), while SRY was monomorphic. However, the distribution of the polymorphic variants in the DSD dogs and 11 control XY dogs did not differ significantly. Our study suggests that an association between t...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - May 4, 2019 Category: Genetics & Stem Cells Authors: Krzemińska P, D'Anza E, Ciotola F, Paciello O, Restucci B, Peretti V, Albarella S, Switonski M Tags: Sex Dev Source Type: research

A Novel Homozygous AMRH2 Gene Mutation in a Patient with Persistent M üllerian Duct Syndrome.
We report on a male patient with bilateral undescended gonads, müllerian derivatives, and normal serum AMH levels. A novel homozygous missense mutation, c.119G>C;p.Gly40Ala, in exon 2 of AMHR2 was detected that supported the clinical diagnosis of PMDS. PMID: 30933950 [PubMed - as supplied by publisher] (Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation)
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - April 2, 2019 Category: Genetics & Stem Cells Authors: Fernández-Cancio M, Viswanath N, Puzhankara R, Valiyaprambil Pavithran P, Mora-Palma C, Camats N, Audí L, Benito-Sanz S Tags: Sex Dev Source Type: research

Spatiotemporal Correlations between amh and cyp19a1a Transcript Expression and Apoptosis during Gonadal Sex Differentiation of Pejerrey, Odontesthes bonariensis.
In this study, we investigated the spatiotemporal expression patterns of amh, gonadal aromatase (cyp19a1a), and apoptosis in relation to the histological gradient in ovaries and testes at an intermediate, sexually neutral temperature. The location and timing of expression of amh, cyp19a1a, and apoptosis seemed to be highly coordinated with the time of gonadal sex differentiation and the histological gradient of gonadal sex differentiation. Apoptosis occurred predominantly in the anterior region of the right gonads and is surmised to be a process to delay differentiation in this area compared to the left gonad, possibly as ...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - March 27, 2019 Category: Genetics & Stem Cells Authors: Sarida M, Hattori RS, Zhang Y, Yamamoto Y, Strüssmann CA Tags: Sex Dev Source Type: research

Association Between Extra-Genital Congenital Anomalies and Hypospadias Outcome.
Abstract Extra-genital congenital anomalies are often present in cases of hypospadias, but it is unclear whether they have an association with the outcome of hypospadias surgery. The aim of this study was to review all hypospadias cases that had surgery between 2009 and 2015 at a single centre and identify clinical determinants of the surgical outcome. An extra-genital congenital anomaly was reported in 139 (22%) boys and 62 (10%) had more than 1 anomaly. Of the 626 boys, 54 (9%), including 44 with proximal hypospadias, had endocrine as well as limited genetic evaluation. Of these, 10 (19%) had a biochemical evide...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - March 26, 2019 Category: Genetics & Stem Cells Authors: Al-Juraibah F, Lucas-Herald A, Nixon R, Toka C, Wang C, Flett M, O''Toole S, Ahmed SF Tags: Sex Dev Source Type: research

Paternity in 5 α-Reductase-2 Deficiency: Report of Two Brothers with Spontaneous or Assisted Fertility and Literature Review.
In conclusion, the possibility of fatherhood is a main indication for male sex assignment in patients with 5α-reductase-2 deficiency. PMID: 30889611 [PubMed - as supplied by publisher] (Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation)
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - March 20, 2019 Category: Genetics & Stem Cells Authors: Bertelloni S, Baldinotti F, Baroncelli GI, Caligo MA, Peroni D Tags: Sex Dev Source Type: research

Sertoli Cell Number Correlates with Serum Inhibin B in Infant Cryptorchid Boys.
Abstract Postnatal maturation of Sertoli cells is crucial for male fertility. The aim of this study was to assess the association between the Sertoli cell number per tubule cross-section (SC/T), the serum level of the Sertoli cell-produced inhibin B, and the A-dark spermatogonia number per tubule (Ad/T) in cryptorchid boys. Forty infant cryptorchid boys aged 4-35 months (median: 13 months) were included in the study. During orchiopexy, blood samples for serum inhibin B, luteinizing hormone (LH), and follicle stimulating hormone (FSH) and testicular biopsies were obtained. Histological sections were evaluated by qu...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - March 20, 2019 Category: Genetics & Stem Cells Authors: Hildorf S, Dong L, Thorup J, Clasen-Linde E, Yding Andersen C, Cortes D Tags: Sex Dev Source Type: research

A 47,XXY Pregnant Woman without the SRY Gene.
Abstract Individuals with a 47,XXY karyotype usually present with a male phenotype due to the additional Y chromosome. In this paper, we describe a 47,XXY female who was pregnant with a fetus of the same karyotype based on chromosome analysis of amniotic fluid cells. Further analysis of her Y chromosome indicated that the additional Y chromosome contains no SRY gene on the short arm but carries the azoospermia factor region on the long arm, including azoospermia factor a, b and c (AZFa, AZFb, AZFc). This region may influence her female phenotype. Fertile females with a 47,XXY karyotype and loss of SRY are extremel...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - February 16, 2019 Category: Genetics & Stem Cells Authors: Hu L, Liu P, Ma L, Xin X, Chen J, Xie Q, Luo F, Xie X, Huang J Tags: Sex Dev Source Type: research

A Follow-Up from Infancy to Puberty in a Japanese Male with SRY-Negative 46,XX Testicular Disorder of Sex Development Carrying a p.Arg92Trp Mutation in NR5A1.
We report the clinical course from infancy to puberty in a Japanese male with SRY-negative 46,XX testicular DSD, carrying this p.Arg92Trp mutation in NR5A1. The patient naturally acquired the development of a penis and pubic hair during puberty. However, hypergonadotropic hypogonadism subsequently developed. More clinical cases will be needed to fully understand the effects of the p.Arg92Trp mutation on the ability to maintain testosterone secretion in 46,XX testicular DSD. PMID: 30739115 [PubMed - as supplied by publisher] (Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - February 9, 2019 Category: Genetics & Stem Cells Authors: Saito-Hakoda A, Kanno J, Suzuki D, Kawashima S, Kamimura M, Hirano K, Sakai K, Igarashi M, Fukami M, Fujiwara I Tags: Sex Dev Source Type: research

Sequence Variants in TBX6 Are Associated with Disorders of the M üllerian Ducts: An Update.
Sequence Variants in TBX6 Are Associated with Disorders of the Müllerian Ducts: An Update. Sex Dev. 2019 Feb 09;: Authors: Tewes AC, Hucke J, Römer T, Kapczuk K, Schippert C, Hillemanns P, Wieacker P, Ledig S Abstract Müllerian anomalies comprise the Mayer-Rokitansky-Küster-Hauser syndrome as well as fusion defects of the müllerian ducts. Recurrent micro-aberrations like deletions in 16p11.2 encompassing TBX6 were found to be causative in these patients. TBX6 encodes a transcription factor which plays a role in paraxial mesoderm differentiation/specification. In previous studi...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - February 9, 2019 Category: Genetics & Stem Cells Authors: Tewes AC, Hucke J, Römer T, Kapczuk K, Schippert C, Hillemanns P, Wieacker P, Ledig S Tags: Sex Dev Source Type: research

Optimal Management of Undescended Testis in Boys with Cerebral Palsy. A Debate.
Abstract Cerebral palsy is a rare condition following injury of the developing brain and including nonprogressive neurological disorders, spasticity, intellectual impairment and others. Boys with cerebral palsy have a high incidence of undescended testis. Although the motives for treatment (infertility, cancer prevention, psychological aspects, testicular torsion) are not different in boys without neurological impairment, the decision-making process in boys with cerebral palsy is very difficult. Besides medical and surgical arguments the discussion involves challenging ethical issues. PMID: 30703771 [PubMed -...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - February 1, 2019 Category: Genetics & Stem Cells Authors: Springer A Tags: Sex Dev Source Type: research

Surgical Management of Undescended Testis - Timetable and Outcome: A Debate.
Abstract Around 1.4-3.8% of boys in the Western world are operated because of cryptorchidism. This means that orchidopexy remains one of the most common surgical procedures performed in boys. As a consequence, several consensus reports, guidelines, and reviews dealing with the management of cryptorchidism have been published recently. Based on our research and 30 years' experience with the management of cryptorchidism, the intention of the present publication is to advise on the surgical management and comment on the expected outcome, especially with focus on the controversies related to guidelines and reviews. Ex...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - January 26, 2019 Category: Genetics & Stem Cells Authors: Thorup J, Cortes D Tags: Sex Dev Source Type: research

Management of Undescended Testis: A Debate.
h L PMID: 30665227 [PubMed - as supplied by publisher] (Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation)
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - January 22, 2019 Category: Genetics & Stem Cells Authors: Bertelloni S, Wünsch L Tags: Sex Dev Source Type: research

Molecular Sexing of the White-Winged Guan (Penelope albipennis) and Other Wild Birds of the North of Peru.
, Chimoy Effio PJ Abstract The use of accurate and reliable techniques for sex determination of wild birds is of special importance in captive breeding programs, especially in birds with monogamous, aggressive behavior, with absence of copulation, and with a low hatching rate. Using PCR, we evaluated the relative efficacy of primers HPF/HPR and CHD1Wr/NP/CHD1Zr in the amplification of the chromo-helicase-DNA binding 1 (CHD1) gene for sex determination in Penelope albipennis and 8 other species of cracids, 4 species of falconids, 4 species of accipitrids, and 3 species of psittacines. Primer effectiveness was compa...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - December 21, 2018 Category: Genetics & Stem Cells Authors: Díaz Casana CF, Vivas Ruíz DE, Sandoval Peña GA, Chimoy Effio PJ Tags: Sex Dev Source Type: research

Identification of Candidate Genes for Mayer-Rokitansky-K üster-Hauser Syndrome Using Genomic Approaches.
Identification of Candidate Genes for Mayer-Rokitansky-Küster-Hauser Syndrome Using Genomic Approaches. Sex Dev. 2018 Dec 01;: Authors: Backhouse B, Hanna C, Robevska G, van den Bergen J, Pelosi E, Simons C, Koopman P, Juniarto AZ, Grover S, Faradz S, Sinclair A, Ayers K, Tan TY Abstract Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a disorder of sex development which affects 1 in 4,500 females and is characterized by agenesis of müllerian structures, including the uterus, cervix, and upper vagina. It can occur in isolation (type 1) or in conjunction with various anomalies (type 2),...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - December 1, 2018 Category: Genetics & Stem Cells Authors: Backhouse B, Hanna C, Robevska G, van den Bergen J, Pelosi E, Simons C, Koopman P, Juniarto AZ, Grover S, Faradz S, Sinclair A, Ayers K, Tan TY Tags: Sex Dev Source Type: research

A Rare Mosaic Karyotype of 45,X/46,X,psu idic(Y)(p11.32)/46,XY with SHOX Haploinsufficiency, External Male Genitalia, and Short Stature.
Koç A Abstract In this case study, we describe a 3-year-old boy who was referred to the Inonu University Hospital with short stature complaint. His height was 86 cm (-2.96 SDS), weight was 12 kg (-2.43 SDS), and head circumference was 46.5 cm (-2.34 SDS). Chromosomal analyses were performed on cultured peripheral blood lymphocytes of the patient and his parents and showed the patient's karyotype mos 45,X[20]/46,X,idic(Y)(p11.32)[29]/46,XY[1]. The karyotypes of the parents were normal. Subsequently, specific FISH probes were hybridized to the related regions of the sex-determining region Y (SRY), centromere...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - December 1, 2018 Category: Genetics & Stem Cells Authors: Ekici C, Esener Z, Korkmaz S, Saltürk N, Yüksel S, Koç A Tags: Sex Dev Source Type: research

Contents Vol. 12, 2018.
Authors: PMID: 30497074 [PubMed - as supplied by publisher] (Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation)
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - November 27, 2018 Category: Genetics & Stem Cells Tags: Sex Dev Source Type: research

Michael Schmid (1948-2018): A Life Devoted to Science.
n H PMID: 30376669 [PubMed - as supplied by publisher] (Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation)
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - October 31, 2018 Category: Genetics & Stem Cells Authors: Höhn H Tags: Sex Dev Source Type: research

A Search for Disorders of Sex Development among Infertile Men.
In conclusion, the frequency of DSD in this study was 14%, consisting mainly of sex chromosome abnormalities but also 46,XX and 46,XY DSD. However, this figure may increase as further investigations are conducted in idiopathic cases with signs of primary testicular failure, which may present partial gonadal dysgenesis. PMID: 30372699 [PubMed - as supplied by publisher] (Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation)
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - October 30, 2018 Category: Genetics & Stem Cells Authors: Yabiku RS, Guaragna MS, de Sousa LM, Fabbri-Scallet H, Mazzola TN, Piveta CSC, de Souza ML, Guerra-Júnior G, de Mello MP, Maciel-Guerra AT Tags: Sex Dev Source Type: research

Thermal Response of Epigenetic Genes Informs Turtle Sex Determination with and without Sex Chromosomes.
Abstract Vertebrate sexual fate can be established by environmental cues (e.g., temperature-dependent sex determination, TSD) or by genetic content (genotypic sex determination, GSD). While methylation is implicated in TSD, the influence of broader epigenetic processes in sexual development remains obscure. Here, we investigated for the first time the embryonic gonadal expression of the genome-wide epigenetic machinery in turtles, including genes and noncoding RNAs (ncRNAs) involved in DNA/histone acetylation, methylation, ubiquitination, phosphorylation, and RNAi. This machinery was active and differentially ther...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - October 3, 2018 Category: Genetics & Stem Cells Authors: Radhakrishnan S, Literman R, Neuwald JL, Valenzuela N Tags: Sex Dev Source Type: research

Conservation of Ovary-Specific Genes, Foxl2, Aromatase, and Rspo1, in the Common Indian Garden Lizard, Calotes versicolor, That Lacks Chromosomal or Temperature-Dependent Sex Determination.
Abstract Foxl2,Rspo1, and Aromatase are genes important in the ovary developmental pathway in mammals and birds. Here, we show their presence in the lizard, Calotes versicolor, which is known to lack a chromosomal as well as a temperature-dependent mode of sex determination and has an indeterminate, bipotential gonad throughout embryonic development. The expression of the 3 genes, as well as that of CvSox9 and Wnt4 - the known testis and ovary pathway genes - was studied by RT-PCR and whole tissue RNA in situ hybridization (WRISH) on the developing mesonephros gonadal complex (MGC). The expression of all 3 genes w...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - September 15, 2018 Category: Genetics & Stem Cells Authors: Priyanka, Tripathi V, Raman R Tags: Sex Dev Source Type: research

Meiotic Synapsis and Gene Expression Altered by a Balanced Y-Autosome Reciprocal Translocation in an Azoospermic Pig.
ng WA Abstract 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. Previously, we have described a Y-au...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - September 5, 2018 Category: Genetics & Stem Cells Authors: Mary N, Villagómez DAF, Revay T, Rezaei S, Donaldson B, Pinton A, King WA Tags: Sex Dev Source Type: research

Complete Androgen Insensitivity Syndrome due to Mutations in the DNA-Binding Domain of the Human Androgen Receptor Gene.
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. The mutation is located in the acceptor splice site (2 nucleotides before exon 3) and caused skipping of exon 3 and formation of an abnormal protein. The second mutation (g. 98762_98764delTCT) was identified in a case of oligoamenorrhea and caused the deletion of 1 amino acid (p.∆Phe583). Both identified mutations wer...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - August 31, 2018 Category: Genetics & Stem Cells Authors: Chauhan P, Rani A, Singh SK, Rai AK Tags: Sex Dev Source Type: research

Impaired Spermatogenesis due to Small Supernumerary Marker Chromosomes: The Reason for Infertility Is Only Reliably Ascertainable by Cytogenetics.
Abstract 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....
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - August 9, 2018 Category: Genetics & Stem Cells Authors: Liehr T, Hamid Al-Rikabi AB Tags: Sex Dev Source Type: research

Persistent M üllerian Duct Syndrome in a German Shepherd Dog.
In this study, we report and characterize a new case of PMDS in a dog excluding that the only mutation hitherto found in the AMHR2 gene is responsible for the observed phenotype. PMID: 30086548 [PubMed - as supplied by publisher] (Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation)
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - August 8, 2018 Category: Genetics & Stem Cells Authors: De Lorenzi L, Arrighi S, Groppetti D, Bonacina S, Parma P Tags: Sex Dev Source Type: research

Disorder of Sexual Development in a Mare with an Unusual Tentative Mosaic Karyotype: 63,X/64,Xdel(Y).
Abstract 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 heterochromat...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - August 3, 2018 Category: Genetics & Stem Cells Authors: Neuhauser S, Handler J, Schelling C, Pieńkowska-Schelling A Tags: Sex Dev Source Type: research

Functional and Structural Study of the Amino Acid Substitution in a Novel Familial Androgen Receptor Mutation (W752G) Responsible for Complete Androgen Insensitivity Syndrome.
Abstract 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). Although sex assignment is not discussed in...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - August 1, 2018 Category: Genetics & Stem Cells Authors: Paris F, Boulahtouf A, Kalfa N, Guibal MP, Gaspari L, Servant N, Bourguet W, Sultan C, Balaguer P Tags: Sex Dev Source Type: research

A Homozygous Missense Mutation in FANCA Gene in a 46,XY Female with Gonadal Dysgenesis.
Abstract 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). Both parents were heterozygous for the mutation. The FA mutation was associated with a...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - July 21, 2018 Category: Genetics & Stem Cells Authors: Mazen I, McElreavey K, Eid MM, Bashamboo A, Kamah G Tags: Sex Dev Source Type: research

Clinical and Cytogenetic Study of Egyptian Patients with Sex Chromosome Disorders of Sex Development.
In conclusion, we showed a high incidence of sex chromosome DSD among Egyptian DSD patients with wide karyotype/phenotype diversity. The most frequent sex chromosome DSD detected among patients of the present study was Turner syndrome and variants (52.08%; 25/48) followed by Klinefelter syndrome and variants (43.75%; 21/48). Further long term studies are necessary for accurate detection of frequencies of different types of sex chromosomal anomalies and associated phenotypes. PMID: 30007989 [PubMed - as supplied by publisher] (Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryolog...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - July 14, 2018 Category: Genetics & Stem Cells Authors: Mazen IM, Mekkawy MK, Ibrahim HM, Kamel AK, Hamza RT, Elaidy AA Tags: Sex Dev Source Type: research

Involving Individuals with Disorders of Sex Development and Their Parents in Exploring New Models of Shared Learning: Proceedings from a DSDnet COST Action Workshop.
In conclusion, workshops can be designed and delivered in meaningful ways for all those involved in care of individuals with rare conditions. PMID: 29936513 [PubMed - as supplied by publisher] (Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation)
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - June 23, 2018 Category: Genetics & Stem Cells Authors: Sanders C, Hall J, Sanders C, Dessens A, Bryce J, Callens N, Cools M, Kourime M, Kyriakou A, Springer A, Audi L, Balsamo A, Iotova V, Mladenov V, Krawczynski M, Nordenskjöld A, Rozas M, Claahsen-van der Grinten H, Hiort O, Riedl S, Ahmed SF Tags: Sex Dev Source Type: research

Triploid Colubrid Snake Provides Insight into the Mechanism of Sex Determination in Advanced Snakes.
atochvíl L Abstract 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. We speculate that as...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - June 19, 2018 Category: Genetics & Stem Cells Authors: Rovatsos M, Augstenová B, Altmanová M, Sloboda M, Kodym P, Kratochvíl L Tags: Sex Dev Source Type: research

XY (SRY-positive) Ovarian Disorder of Sex Development in Cattle.
rma P Abstract 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, al...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - June 13, 2018 Category: Genetics & Stem Cells Authors: De Lorenzi L, Arrighi S, Rossi E, Grignani P, Previderè C, Bonacina S, Cremonesi F, Parma P Tags: Sex Dev Source Type: research

Hypospadias Is Not Rare in Dogs: Five New Cases, a Retrospective Study, and a Review of the Literature.
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). Cytogenetic and histological analysis could be performed for only 2 cases: a normal male sex chromosome complement (78,XY) and spermatogenetically inactive testicles were observed. A retrospective search ...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - June 13, 2018 Category: Genetics & Stem Cells Authors: Switonski M, Dzimira S, Aleksiewicz R, Szczerbal I, Nowacka-Woszuk J, Krzeminska P, Deska T, Nizanski W Tags: Sex Dev Source Type: research

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.
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. Sex Dev. 2018 Jun 13;: Authors: Hadziselimovic F PMID: 29895016 [PubMed - as supplied by publisher] (Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation)
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - June 13, 2018 Category: Genetics & Stem Cells Authors: Hadziselimovic F Tags: Sex Dev Source Type: research

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.
Abstract 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, whic...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - June 8, 2018 Category: Genetics & Stem Cells Authors: Ilaslan E, Calvel P, Nowak D, Szarras-Czapnik M, Slowikowska-Hilczer J, Spik A, Sararols P, Nef S, Jaruzelska J, Kusz-Zamelczyk K Tags: Sex Dev Source Type: research

Differentiation and Evolution of the W Chromosome in the Fish Species of Megaleporinus (Characiformes, Anostomidae).
Abstract 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 objectiv...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - June 8, 2018 Category: Genetics & Stem Cells Authors: Caetano de Barros L, Piscor D, Parise-Maltempi PP, Feldberg E Tags: Sex Dev Source Type: research

The Mosaicism Ratio of 45,X May Explain the Phenotype in a Case of Mixed Gonadal Dysgenesis.
In conclusion, the mosaicism ratio in the different tissues may explain the phenotypes in MGD. PMID: 29879705 [PubMed - as supplied by publisher] (Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation)
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - June 8, 2018 Category: Genetics & Stem Cells Authors: Hatano M, Fukuzawa R, Hasegawa Y Tags: Sex Dev Source Type: research

Conserved Domains in the Transformer Protein Act Complementary to Regulate Sex-Specific Splicing of Its Own Pre-mRNA.
Abstract 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 ...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - May 26, 2018 Category: Genetics & Stem Cells Authors: Tanaka A, Aoki F, Suzuki MG Tags: Sex Dev Source Type: research

Clitoromegaly in Childhood and Adolescence: Behind One Clinical Sign, a Clinical Sea.
Abstract 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. In these subjects, a comprehensive physical examinatio...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - May 26, 2018 Category: Genetics & Stem Cells Authors: Iezzi ML, Lasorella S, Varriale G, Zagaroli L, Ambrosi M, Verrotti A Tags: Sex Dev Source Type: research

Title Page / Table of Contents.
Authors: PMID: 29471291 [PubMed - in process] (Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation)
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - February 23, 2018 Category: Genetics & Stem Cells Tags: Sex Dev Source Type: research

Subject Index Vol. 12, No. 1-3, 2018.
Authors: PMID: 29471297 [PubMed - in process] (Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation)
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - February 23, 2018 Category: Genetics & Stem Cells Tags: Sex Dev Source Type: research

Author Index Vol. 12, No. 1-3, 2018.
Authors: PMID: 29471306 [PubMed - in process] (Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation)
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - February 23, 2018 Category: Genetics & Stem Cells Tags: Sex Dev Source Type: research

Normative Basal Values of Hormones and Proteins of Gonadal and Adrenal Functions from Birth to Adulthood.
We present a series of tables where we have collected the reference intervals for each specific hormone and protein. PMID: 29439271 [PubMed - as supplied by publisher] (Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation)
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - February 14, 2018 Category: Genetics & Stem Cells Authors: Fanelli F, Baronio F, Ortolano R, Mezzullo M, Cassio A, Pagotto U, Balsamo A Tags: Sex Dev Source Type: research

Endoscopy and Laparoscopy in Disorders of Sex Development.
This article reviews clinical indications, limitations, findings, and their reporting. It further discusses the impact of these findings on care in typical clinical situations. PMID: 29414828 [PubMed - as supplied by publisher] (Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation)
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - February 8, 2018 Category: Genetics & Stem Cells Authors: Tafazzoli K, Wünsch L, Bouteleux M, Lindert J, Schulz T, Birnbaum W, Marshall L, Hiort O, Tüshaus L Tags: Sex Dev Source Type: research

Concluding Remarks - From Bench to Bed.
PMID: 29402865 [PubMed - as supplied by publisher] (Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation)
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - February 7, 2018 Category: Genetics & Stem Cells Authors: Hiort O Tags: Sex Dev Source Type: research

Virtual Networks for Exchanging Information and Biomaterials: Future Directions.
Abstract 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. PMID: 29408815 [PubMed - as supplied by publisher] (Source: Sexual Development : gen...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - February 7, 2018 Category: Genetics & Stem Cells Authors: Kourime M, Ahmed SF Tags: Sex Dev Source Type: research

Androgen Insensitivity Syndrome at Prepuberty: Marked Loss of Spermatogonial Cells at Early Childhood and Presence of Gonocytes up to Puberty.
Abstract Androgen insensitivity syndrome (AIS) is a hereditary condition in patients with a 46,XY karyotype in which loss-of-function mutations of the androgen receptor (AR) gene are responsible for defects in virilization. The aim of this study was to investigate the consequences of the lack of AR activity on germ cell survival and the degree of testicular development reached by these patients by analyzing gonadal tissue from patients with AIS prior to Sertoli cell maturation at puberty. Twenty-three gonads from 13 patients with AIS were assessed and compared to 18 testes from 17 subjects without endocrine disord...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - January 24, 2018 Category: Genetics & Stem Cells Authors: Aliberti P, Perez Garrido N, Marino R, Ramirez P, Solari AJ, Sciurano R, Costanzo M, Guercio G, Warman DM, Bailez M, Baquedano MS, Rivarola MA, Belgorosky A, Berensztein E Tags: Sex Dev Source Type: research

Phenotypic Variation in 46,XX Disorders of Sex Development due to the NR5A1 p.R92W Variant: A Sibling Case Report and Literature Review.
We report a sibling pair with 46,XX DSD due to an NR5A1 mutation with distinct phenotypes, including external and internal genitalia and gonads, for whom different rearing sexes were selected. Thus, the phenotypes of p.R92W vary, even within a family. The father of the patients showed oligozoospermia with the p.R92W mutation, suggesting that in 46,XY individuals, the mutation would cause various gonadal phenotypes. We review and discuss the general role of the R92W mutation in sexual development. PMID: 29393271 [PubMed - as supplied by publisher] (Source: Sexual Development : genetics, molecular biology, evolution, en...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - January 24, 2018 Category: Genetics & Stem Cells Authors: Takasawa K, Igarashi M, Ono M, Takemoto A, Takada S, Yamataka A, Ogata T, Morio T, Fukami M, Kashimada K Tags: Sex Dev Source Type: research