Atypical Clinical Presentation of Persistent M üllerian Duct Syndrome in Siblings
Persistent M üllerian duct syndrome (PMDS) is a rare autosomal recessive disorder characterized by the lack of regression of the derivatives of the Müllerian ducts in males. Boys with this condition usually present with unilateral or bilateral cryptorchidism, inguinal hernias, and reproductive disorders with n ormal male genitalia. Variants in theAMH orAMHR2 genes are responsible for the development of this syndrome. The genetic diagnosis and surgery in PMDS is challenging for both the endocrinologist and the urologist. Here, we describe the management of 2 siblings from 1 family who presented with bilateral cryptorchidi...
Source: Sexual Development - March 10, 2021 Category: Biology Source Type: research
Early Crypt Formation Defects in the Uterine Epithelia of < b > < i > Sox17 < /i > < /b > Heterozygous Mice
SOX17 activity in the uterine epithelium is essential for the implantation of mouse embryos. Previously, we demonstrated that femaleSox17 heterozygous mutant mice are subfertile, and 2 active copies ofSox17 are required for the proper implantation of mouse embryos. To understand which implantation step is most sensitive to theSox17 gene dosage, we comprehensively investigated the phenotypes and RNA transcriptomes ofSox17 heterozygous mutant mice. UterineSox17 expression drastically changed according to estrous cycle and during early pregnancy. The highestSox17 expression was observed during the receptive period for blastoc...
Source: Sexual Development - March 9, 2021 Category: Biology Source Type: research
Molecular Actions Underlying Wolffian Duct Regression in Sexual Differentiation of Murine Reproductive Tracts
Sexually dimorphic establishment of the reproductive tract system requires sex-specific regression of the Wolffian duct and M üllerian duct in the mesonephros. In an XX embryo, the Wolffian duct regresses under the control of the mesenchymal transcription factor COUP-TFII. To understand cellular and molecular actions underlying Wolffian duct regression, we performed transcriptomic analyses of XX mesonephroi with or withou tCoup-tfII and genome-wide analysis of COUP-TFII chromatin occupancy in XX mesonephroi. The integrative analysis of COUP-TFII genome-wide binding and transcriptomic analysis revealed the suppression of m...
Source: Sexual Development - March 8, 2021 Category: Biology Source Type: research
Clinical and Molecular Cytogenetic Characteristics of Five Cases with Isodicentric Y Chromosome
Isodicentric Y chromosome [idic(Y)] is one of the most common structural abnormalities of the Y chromosome and has been observed in patients with reproductive disorders and in patients with disorders of sexual development. Most idic(Y) chromosomes are found in mosaic form with a 45,X cell line. These chromosomes are highly unstable during mitosis due to the presence of 2 centromers, which explains their probable loss in early mitosis or mitosis of the embryo and therefore the presence of the 45,X line. It has been hypothesized that the proportion of 45,X cells in various tissues probably influences the phenotypic sex of in...
Source: Sexual Development - March 5, 2021 Category: Biology Source Type: research
Development of Testis Cords and the Formation of Efferent Ducts in < b > < i > Xenopus laevis < /i > < /b > : Differences and Similarities with Other Vertebrates
The knowledge of testis development in amphibians relative to amniotes remains limited. Here, we usedXenopus laevis to investigate the process of testis cord development. Morphological observations revealed the presence of segmental gonomeres consisting of medullary knots in male gonads at stages 52 –53, with no distinct gonomeres in female gonads. Further observations showed that cell proliferation occurs at specific sites along the anterior-posterior axis of the future testis at stage 50, which contributes to the formation of medullary knots. At stage 53, adjacent gonomeres become close to each other, resulting in fusi...
Source: Sexual Development - March 4, 2021 Category: Biology Source Type: research
Laparoscopic Repositioning of Gonads from the Labia Majora or Inguinal Canal into the Abdominal Cavity in Pediatric Complete Androgen Insensitivity Syndrome Patients with Inguinal Hernia
Androgen insensitivity syndrome (AIS) is a congenital condition characterized by a 46,XY karyotype but with a female phenotype caused by mutations in the androgen receptor gene located on the X chromosome. In patients with complete AIS (CAIS), preservation of the gonad is recommended until puberty, and gonadectomy can be regarded subsequently. The location of the gonads should be considered, because positions in the labia majora or inguinal canals can cause discomfort. Here, the laparoscopic reposition of gonads into the abdominal cavity in pediatric patients with CAIS is reported. From 2013 to 2019, laparoscopic inguinal ...
Source: Sexual Development - March 4, 2021 Category: Biology Source Type: research
Association between Down Syndrome and Disorders of Sex Development: Report of Three Cases and Review of 188 Cases in the Literature
In conclusion, the association of DS with sex chromosome DSD is the most frequently observed, whereas associations with 46,XX and 46,XY DSD is extremely rare.Sex Dev (Source: Sexual Development)
Source: Sexual Development - March 2, 2021 Category: Biology Source Type: research
First Report of Sex Chromosomes in Plated Lizards (Squamata: Gerrhosauridae)
In this study, we applied both conventional and molecular cytogenetic methods to metaphases from both sexes of the Peters ’ keeled plated lizard (Tracheloptychus petersi). We identified accumulations of rDNA loci in a pair of microchromosomes in metaphases from males, but only in a single microchromosome in females. The restriction of the observed heterozygosity to females suggests a putative ZZ/ZW system of sex chromosomes, which represents the first report of sex chromosomes in a gerrhosaurid lizard. The lack of sex-specific signals in all other cytogenetic methods implies that the sex chromosomes ofT. petersi are poor...
Source: Sexual Development - March 1, 2021 Category: Biology Source Type: research
Publisher's Note
Sex Dev (Source: Sexual Development)
Source: Sexual Development - February 17, 2021 Category: Biology Source Type: research
Contents Vol. 13, 2019
Sex Dev 2019;13:I-VI (Source: Sexual Development)
Source: Sexual Development - October 25, 2020 Category: Biology Source Type: research
Parental Acceptance Rate of Testicular Tissue Cryopreservation in Danish Boys with Cryptorchidism
Despite orchidopexy within the first year of life, 20-25% of boys with nonsyndromic cryptorchidism may risk infertility according to histological and hormonal data obtained during surgery. The aim of this study was to evaluate the acceptance rate of testicular tissue cryopreservation among parents of prepubertal boys with cryptorchidism. Fourteen boys with cryptorchidism and high infertility risk were offered cryopreservation as an additional procedure after orchidopexy based on abnormal histopathological findings at primary surgery, whereas 27 boys with bilateral cryptorchidism were offered cryopreservation at the initial...
Source: Sexual Development - October 19, 2020 Category: Biology Source Type: research
Molecular Characteristics of Sequence Variants in < b > < i > GATA4 < /i > < /b > in Patients with 46,XY Disorders of Sex Development without Cardiac Defects
In conclusion, it is essential to integrate clinical features and endocrine findings when interpreting sequence variants.Sex Dev (Source: Sexual Development)
Source: Sexual Development - September 25, 2020 Category: Biology Source Type: research
Various Genital and Reproductive Phenotypes in 46,XX/46,XY Chimeras
Tetragametic chimeras are due to the fusion of 2 different zygotes after fertilization. When occurring between embryos of different chromosomal sex, the phenotype ranges from fertile individuals to infertile patients and even to patients with variations in sex development. Here, we report 3 new cases of XX/XY chimeras, one in a young boy carrying an abnormal gonad which turned out to be an ovary and 2 in phenotypically normal infertile men, one of whom had been diagnosed previously as a XX-SRY negative male. These cases highlight the importance of combining several cytogenetic and molecular techniques on different tissues ...
Source: Sexual Development - September 18, 2020 Category: Biology Source Type: research
Persistent M üllerian Duct Syndrome: A Rare But Important Etiology of Inguinal Hernia and Cryptorchidism
Homozygous loss of function mutations in genes encoding anti-M üllerian hormone (AMH) or its receptor (AMHRII) lead to persistent M üllerian duct syndrome (PMDS). PMDS is characterized by the presence of a uterus, fallopian tubes, cervix, and upper vagina in fully virilised 46,XY males. Both surgical management and long-term follow-up of these patients are challenging. Four cases with PMDS presented with cryptorchidism and ingu inal hernia, and laparoscopic inguinal exploration revealed Müllerian remnants. Three of the patients had homozygous mutations in theAMH gene, one with a novel c.1673G>A (p.Gly558Asp) mutation, a...
Source: Sexual Development - September 18, 2020 Category: Biology Source Type: research
Spectrum of Pathogenic Variants in < b > < i > SRD5A2 < /i > < /b > in Indian Children with 46,XY Disorders of Sex Development and Clinically Suspected Steroid 5 α-Reductase 2 Deficiency
In conclusion, pathogenic variants inSRD5A2can be detected in a wide spectrum of Indian patients with 46,XY DSD. Molecular genetic analysis should be considered as a first-line test as the T:DHT ratio lacks specificity and a hotspot variant is present in a vast majority.Sex Dev (Source: Sexual Development)
Source: Sexual Development - September 4, 2020 Category: Biology Source Type: research
