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 - July 3, 2019 Category: Biology Source Type: research

A Search for Sex-Linked Loci in the Agamid Lizard, Calotes versicolor
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 ifC. versicolor lacks highly differentiated sex chromosomes. Three RAD-tags with alleles most strongly associated with sex tended to be he...
Source: Sexual Development - June 28, 2019 Category: Biology Source Type: research

A Search for Sex-Linked Loci in the Agamid Lizard, < b > < i > Calotes versicolor < /i > < /b >
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 ifC. versicolor lacks highly differentiated sex chromosomes. Three RAD-tags with alleles most strongly associated with sex tended to be he...
Source: Sexual Development - June 27, 2019 Category: Biology 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 inMAMLD1(3 SNPs),SRD5A2 (5 SNPs), andAR (2 STRs and 1 SNP), whileSRY 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 the po...
Source: Sexual Development - May 6, 2019 Category: Biology Source Type: research

Polymorphisms of < b > < i > MAMLD1, SRD5A2, < /i > < /b > and < b > < i > AR < /i > < /b > Candidate Genes in Seven Dogs (78,XY; < b > < i > SRY < /i > < /b > -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 inMAMLD1(3 SNPs),SRD5A2 (5 SNPs), andAR (2 STRs and 1 SNP), whileSRY 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 the po...
Source: Sexual Development - May 5, 2019 Category: Biology 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 ofamh, 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 ofamh,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 a m...
Source: Sexual Development - April 3, 2019 Category: Biology 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, m üllerian derivatives, and normal serum AMH levels. A novel homozygous missense mutation, c.119G>C;p.Gly40Ala, in exon 2 ofAMHR2 was detected that supported the clinical diagnosis of PMDS.Sex Dev (Source: Sexual Development)
Source: Sexual Development - April 3, 2019 Category: Biology Source Type: research

A Novel Homozygous < b > < i > AMRH2 < /i > < /b > Gene Mutation in a Patient with Persistent M üllerian Duct Syndrome
We report on a male patient with bilateral undescended gonads, m üllerian derivatives, and normal serum AMH levels. A novel homozygous missense mutation, c.119G>C;p.Gly40Ala, in exon 2 ofAMHR2 was detected that supported the clinical diagnosis of PMDS.Sex Dev 2019;13:87-91 (Source: Sexual Development)
Source: Sexual Development - April 2, 2019 Category: Biology Source Type: research

Association Between Extra-Genital Congenital Anomalies and Hypospadias Outcome
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 evidence of hypogonadis...
Source: Sexual Development - March 31, 2019 Category: Biology Source Type: research

Spatiotemporal Correlations between < b > < i > amh < /i > < /b > and < b > < i > cyp19a1a < /i > < /b > Transcript Expression and Apoptosis during Gonadal Sex Differentiation of Pejerrey, < b > < i > Odontesthes bonariensis < /i > < /b >
In this study, we investigated the spatiotemporal expression patterns ofamh, 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 ofamh,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 a m...
Source: Sexual Development - March 31, 2019 Category: Biology Source Type: research

Sertoli Cell Number Correlates with Serum Inhibin B in Infant Cryptorchid Boys
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 quantitative immunoh...
Source: Sexual Development - March 21, 2019 Category: Biology 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 defic iency.Sex Dev (Source: Sexual Development)
Source: Sexual Development - March 21, 2019 Category: Biology Source Type: research

A 47,XXY Pregnant Woman without the SRY Gene
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 noSRYgene 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 ofSRY are extremely rare. This paper is...
Source: Sexual Development - February 22, 2019 Category: Biology Source Type: research

A 47,XXY Pregnant Woman without the < b > < i > SRY < /i > < /b > Gene
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 noSRYgene 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 ofSRY are extremely rare. This paper is...
Source: Sexual Development - February 21, 2019 Category: Biology Source Type: research

Sequence Variants in TBX6 Are Associated with Disorders of the M üllerian Ducts: An Update
M üllerian 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 encompassingTBX6 were found to be causative in these patients.TBX6 encodes a transcription factor which plays a role in paraxial mesoderm differentiation/specification. In previous studies, we and other groups found possibly pathogenic variants inTBX6 in patients with m üllerian anomalies. Since we suggestedTBX6 as a strong candidate, we performed sequential analysis of theTBX6gene in additional 125 patients with m üllerian...
Source: Sexual Development - February 12, 2019 Category: Biology Source Type: research

A Follow-Up from Infancy to Puberty in a Japanese Male with < b > < i > SRY < /i > < /b > -Negative 46,XX Testicular Disorder of Sex Development Carrying a p.Arg92Trp Mutation in < b > < i > NR5A1 < /i > < /b >
We report the clinical course from infancy to puberty in a Japanese male withSRY-negative 46,XX testicular DSD, carrying this p.Arg92Trp mutation inNR5A1. 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.Sex Dev (Source: Sexual Development)
Source: Sexual Development - February 8, 2019 Category: Biology Source Type: research

Sequence Variants in < b > < i > TBX6 < /i > < /b > Are Associated with Disorders of the M üllerian Ducts: An Update
M üllerian 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 encompassingTBX6 were found to be causative in these patients.TBX6 encodes a transcription factor which plays a role in paraxial mesoderm differentiation/specification. In previous studies, we and other groups found possibly pathogenic variants inTBX6 in patients with m üllerian anomalies. Since we suggestedTBX6 as a strong candidate, we performed sequential analysis of theTBX6gene in additional 125 patients with m üllerian...
Source: Sexual Development - February 8, 2019 Category: Biology Source Type: research

Is Hormonal Treatment of Congenital Undescended Testes Justified A Debate
Abnormal germ cell development in cryptorchidism is not a result of a congenital dysgenesis but is preceded by a hormone imbalance and perturbation in germ cell-specific gene expression during abrogated mini-puberty. Adequate treatment with low doses of GnRHa enables 86% of men to achieve a normal sperm count and, most importantly, prevent development of azoospermia. GnRHa treatment induces a significant transcriptional response, including protein coding genes involved in pituitary development, the hypothalamic-pituitary-gonadal axis, and testosterone synthesis. Furthermore, hormonal treatment to achieve epididymo-testicul...
Source: Sexual Development - January 31, 2019 Category: Biology Source Type: research

Optimal Management of Undescended Testis in Boys with Cerebral Palsy. A Debate
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.Sex Dev (Source: Sexual Development)
Source: Sexual Development - January 31, 2019 Category: Biology Source Type: research

Is Hormonal Treatment of Congenital Undescended Testes Justified? A Debate
Abnormal germ cell development in cryptorchidism is not a result of a congenital dysgenesis but is preceded by a hormone imbalance and perturbation in germ cell-specific gene expression during abrogated mini-puberty. Adequate treatment with low doses of GnRHa enables 86% of men to achieve a normal sperm count and, most importantly, prevent development of azoospermia. GnRHa treatment induces a significant transcriptional response, including protein coding genes involved in pituitary development, the hypothalamic-pituitary-gonadal axis, and testosterone synthesis. Furthermore, hormonal treatment to achieve epididymo-testicul...
Source: Sexual Development - January 27, 2019 Category: Biology Source Type: research

Surgical Management of Undescended Testis - Timetable and Outcome: A Debate
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. Except for late refe...
Source: Sexual Development - January 27, 2019 Category: Biology Source Type: research

Management of Undescended Testis: A Debate
Sex Dev (Source: Sexual Development)
Source: Sexual Development - January 22, 2019 Category: Biology Source Type: research

Molecular Sexing of the White-Winged Guan ( < b > < i > Penelope albipennis < /i > < /b > ) and Other Wild Birds of the North of Peru
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 inPenelope albipennis and 8 other species of cracids, 4 species of falconids, 4 species of accipitrids, and 3 species of psittacines. Primer effectiveness was compared using previously sexed bird sampl...
Source: Sexual Development - December 21, 2018 Category: Biology Source Type: research

Identification of Candidate Genes for Mayer-Rokitansky-K üster-Hauser Syndrome Using Genomic Approaches
Mayer-Rokitansky-K üster-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), with a subs et of these comprising müllerian, renal, and cervicothoracic abnormalities (MURCS) association. The genetic causes of MRKH have been investigated previously yielding limited results, with massive parallel sequencing becoming increasingly utilized. We sought to identify genetic contributions to MR...
Source: Sexual Development - November 30, 2018 Category: Biology 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
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 X/Y (CEP X/Y), and short statur...
Source: Sexual Development - November 30, 2018 Category: Biology Source Type: research

Conservation of Ovary-Specific Genes, < b > < i > Foxl2, Aromatase, and Rspo1, < /i > < /b > in the Common Indian Garden Lizard, < b > < i > Calotes versicolor < /i > < /b > , That Lacks Chromosomal or Temperature-Dependent Sex Determination
Foxl2,Rspo1, andAromatase 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 ofCvSox9and 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 was initiated in the go...
Source: Sexual Development - November 29, 2018 Category: Biology Source Type: research

Contents Vol. 12, 2018
Sex Dev 2018;12:I-IV (Source: Sexual Development)
Source: Sexual Development - November 29, 2018 Category: Biology Source Type: research

Michael Schmid (1948-2018): A Life Devoted to Science
Sex Dev (Source: Sexual Development)
Source: Sexual Development - October 30, 2018 Category: Biology 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.Sex Dev (Source: Sexual Development)
Source: Sexual Development - October 29, 2018 Category: Biology Source Type: research

Thermal Response of Epigenetic Genes Informs Turtle Sex Determination with and without Sex Chromosomes
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 thermosensitive in TSD...
Source: Sexual Development - October 5, 2018 Category: Biology 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
Foxl2,Rspo1, andAromatase 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 ofCvSox9and 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 was initiated in the go...
Source: Sexual Development - September 17, 2018 Category: Biology Source Type: research

Meiotic Synapsis and Gene Expression Altered by a Balanced Y-Autosome Reciprocal Translocation in an Azoospermic Pig
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-autosome translocation t(Y...
Source: Sexual Development - September 7, 2018 Category: Biology 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 theSRY (sex-determining region Y) andAR genes. Mutational analysis in the first case of primary amenorrhea revealed a novel nucleotide substitution (IVS2-2A>G) in the second intron of theAR 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.#x2206;Phe583). Both identified mutations we...
Source: Sexual Development - September 3, 2018 Category: Biology Source Type: research

Impaired Spermatogenesis due to Small Supernumerary Marker Chromosomes: The Reason for Infertility Is Only Reliably Ascertainable by Cytogenetics
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. Interestingly, al...
Source: Sexual Development - August 8, 2018 Category: Biology 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 theAMHR2 gene is responsible for the observed phenotype.Sex Dev (Source: Sexual Development)
Source: Sexual Development - August 7, 2018 Category: Biology Source Type: research

Disorder of Sexual Development in a Mare with an Unusual Tentative Mosaic Karyotype: 63,X/64,Xdel(Y)
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 heterochromatin. The centromere...
Source: Sexual Development - August 2, 2018 Category: Biology 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
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 cases of CAIS, we...
Source: Sexual Development - July 31, 2018 Category: Biology Source Type: research

A Homozygous Missense Mutation in FANCA Gene in a 46,XY Female with Gonadal Dysgenesis
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 theFANCA gene (c.4232C>T, p.P1411L, rs201494304). Both parents were heterozygous for the mutation. The FA mutation was associated with an atypical clinical...
Source: Sexual Development - July 24, 2018 Category: Biology Source Type: research

A Homozygous Missense Mutation in < b > < i > FANCA < /i > < /b > Gene in a 46,XY Female with Gonadal Dysgenesis
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 theFANCA gene (c.4232C>T, p.P1411L, rs201494304). Both parents were heterozygous for the mutation. The FA mutation was associated with an atypical clinical...
Source: Sexual Development - July 20, 2018 Category: Biology Source Type: research

XY ( < b > < i > SRY < /i > < /b > -positive) Ovarian Disorder of Sex Development in Cattle
In mammals, the sex of the embryo depends on theSRY gene. In the presence of at least one intact and functional copy of this genetic factor (XY embryo) undifferentiated gonads will develop as testicles that subsequently determine the male phenotype. When this factor is not present, i.e., in subjects with 2 X chromosomes, an alternative pathway induces the development of ovaries, hence a female phenotype. In this case study, we describe a female cattle affected by a disorder of sex development (DSD). The subject, despite having a chromosomal XY constitution, did not develop testicles but ovaries, although they were underdev...
Source: Sexual Development - July 19, 2018 Category: Biology 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.Sex Dev (Source: Sexual Development)
Source: Sexual Development - July 13, 2018 Category: Biology 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.Sex Dev (Source: Sexual Development)
Source: Sexual Development - June 22, 2018 Category: Biology Source Type: research

Triploid Colubrid Snake Provides Insight into the Mechanism of Sex Determination in Advanced Snakes
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 both ZZ and ZZW individuals develop...
Source: Sexual Development - June 18, 2018 Category: Biology 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 andZFY). 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 f...
Source: Sexual Development - June 14, 2018 Category: Biology Source Type: research

XY (SRY-positive) Ovarian Disorder of Sex Development in Cattle
In mammals, the sex of the embryo depends on theSRY gene. In the presence of at least one intact and functional copy of this genetic factor (XY embryo) undifferentiated gonads will develop as testicles that subsequently determine the male phenotype. When this factor is not present, i.e., in subjects with 2 X chromosomes, an alternative pathway induces the development of ovaries, hence a female phenotype. In this case study, we describe a female cattle affected by a disorder of sex development (DSD). The subject, despite having a chromosomal XY constitution, did not develop testicles but ovaries, although they were underdev...
Source: Sexual Development - June 14, 2018 Category: Biology 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.
Sex Dev (Source: Sexual Development)
Source: Sexual Development - June 12, 2018 Category: Biology 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
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 theSTAR gene encoding another START domain family member, which is crucial for st...
Source: Sexual Development - June 8, 2018 Category: Biology Source Type: research

Differentiation and Evolution of the W Chromosome in the Fish Species of Megaleporinus (Characiformes, Anostomidae)
The W chromosome ofMegaleporinus 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 forM. macrocephalus (WMm) andM. elongatus (WMe). TwoLeporinus species andSemaprochilodus taeniurus, representing a clade close to the Anostomidae, were also cross-hybridized with the objective to better understand t...
Source: Sexual Development - June 8, 2018 Category: Biology 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.Sex Dev (Source: Sexual Development)
Source: Sexual Development - June 7, 2018 Category: Biology Source Type: research

Differentiation and Evolution of the W Chromosome in the Fish Species of < b > < i > Megaleporinus < /i > < /b > (Characiformes, Anostomidae)
The W chromosome ofMegaleporinus 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 forM. macrocephalus (WMm) andM. elongatus (WMe). TwoLeporinus species andSemaprochilodus taeniurus, representing a clade close to the Anostomidae, were also cross-hybridized with the objective to better understand t...
Source: Sexual Development - June 7, 2018 Category: Biology Source Type: research