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 21, 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 MRKH using a c...
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 were ...
Source: Sexual Development - September 2, 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
