Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation.
Publisher:
S. Karger,
Frequency: Bimonthly
Country: Switzerland
Language: English
Start Year:2007 -
ISSN:
1661-5425 (Print)
1661-5433 (Electronic)
1661-5425 (Linking)
1661-5433 (Electronic)
1661-5425 (Linking)
Impact Factor
2.3
| NLM ID: | 101316472 |
| (OCoLC): | 84911431 |
| LCCN: | 2008243307 |
| Classification: | W1 SE99EK |
An unusual case of a monorchid horse with an abdominally retained testicle. Introduction Monorchidism is a rarely described condition in the horse and is not to be confused with cryptorchidism. The diagnosis is challenging and confirmed by surgery and histology in combination with hormonal assays. This report describes, to the best of the author's knowledge, the first case of monorchidism and abdominal cryptorchidism of the developed testicle in a horse. Methods An Irish Cob underwent laparoscopic castration for removal of bilateral cryptorchid testicles. At surgery the horse was diagnosed as a monorchid with the testicle retained intra-abdominally. Histopathological,...
Androgen Insensitivity Syndrome in a Family of Warmblood Horses Caused by a 25-bp Deletion of the DNA-Binding Domain of the Androgen Receptor Gene. Testicular feminization, an earlier term coined for describing a syndrome resulting from failure of masculinization of target organs by androgen secretions during embryo development, has been well documented not only in humans but also in the domestic horse. The pathology, actually referred to as androgen insensitivity syndrome (AIS), has been proposed to follow an X-linked recessive pattern of inheritance in some horse breeds already investigated. Affected individuals are characterized by a female phenotype but with a stallion genotype of 64,XY SRY+ constitution. We identified a Warmblood hor...
Missense Mutation in the Ligand-Binding Domain of the Horse Androgen Receptor Gene in a Thoroughbred Family with Inherited 64,XY (SRY+) Disorder of Sex Development. Disorders of sex development (DSD) have long been documented in domestic animal species including horses. However, there is only a single report of an androgen receptor (AR) mutation causative of such a DSD syndrome in a horse pedigree. Here, we present a new familial AR mutation in horses. A missense mutation (c.2042G>C) at AR exon 4 explains the segregation of the DSD in a Thoroughbred horse pedigree. The mutation, expected to affect the ligand-binding domain of the AR protein, led to complete androgen insensitivity of 64,XY SRY+, testicular DSD individuals. Additionally, the design of a ...
Disorders of sexual development in the domestic horse, Equus caballus. Abnormalities of sexual development causing infertility in horses have been investigated since the early 1970's. Conventional cytogenetic analysis by karyotyping has been the primary tool used to investigate these horses. Abnormalities have a broad range, from a phenotypically normal mare with gonadal dysgenesis to a horse with ambiguous external genitalia and internal male and female organs. Cytogenetic analysis can determine genetic sex but cannot identify mutations or deletions of genes involved in the sex determination pathway. Molecular technologies have been developed to confirm cytogene...
GTG mutation in the start codon of the androgen receptor gene in a family of horses with 64,XY disorder of sex development. Genetic sex in mammals is determined by the sex chromosomal composition of the zygote. The X and Y chromosomes are responsible for numerous factors that must work in close concert for the proper development of a healthy sexual phenotype. The role of androgens in case of XY chromosomal constitution is crucial for normal male sex differentiation. The intracellular androgenic action is mediated by the androgen receptor (AR), and its impaired function leads to a myriad of syndromes with severe clinical consequences, most notably androgen insensitivity syndrome and prostate cancer. In this paper, w...
Molecular and cytogenetic studies in a case of XX SRY-negative sex reversal in an Arabian horse. An 18-month-old Arabian foal characterized by a stallion-like appearance was submitted for cytogenetic and molecular genetics examinations due to abnormalities of external genitalia and the presence of ovotestis-like structures in the abdominal cavity. By RB-banding the animal showed the normal female equine karyotype (2n = 64,XX). Molecular analysis revealed the absence of the SRY and ZFY genes and the presence of ZFX, a typical female equine condition. The entire RSPO1 coding region was examined to exclude its involvement. Although a SNP was found in exon 3, it was not responsible for an ami...
Cytogenetic and molecular characterization of Y isochromosome in a 63XO/64Xi(Yq) mosaic karyotype of an intersex horse. Sex chromosome aberrations commonly lead to abnormal sexual development. Here we cytogenetically and molecularly characterized Y isochromosome in an intersex horse. Blood lymphocyte analysis showed a mosaic karyotype with 96% 63,XO and 4% 64,Xi(Y) cells. Molecular analysis of the isochromosome was carried out by fluorescence in situ hybridization and polymerase chain reaction with male-specific and pseudoautosomal markers from the horse Y chromosome. We found that the isochromosome was monocentric, composed of 2 long arms, carrying 2 sets of genes of the pseudoautosomal region (PAR) and the ma...
Equine disorders of sexual development in 17 mares including XX, SRY-negative, XY, SRY-negative and XY, SRY-positive genotypes. We described the clinical, cytogenetic and molecular findings of 17 clinical equine cases presented for abnormal sexual development and infertility. Six horses with an enlarged clitoris had an XX, SRY-negative genotype, which displayed male-like behavior (adult individuals). Bilateral ovotestes were noted in 2 of those cases, while another case showed increased levels of circulating testosterone. Six horses with a female phenotype, including normal external genitalia, had an XY, SRY-negative genotype. These individuals had small gonads and an underdeveloped internal reproductive tract. Four ho...
An XY agonadal Oldenburg warmblood horse exhibiting a male phenotype. In a 1.5-year-old Oldenburg horse, a clitoris-like structure instead of a penis was identified in the prepuce. The external genital organs did not show any abnormalities at visual inspection except that exteriorization of the penis was not possible, not even under general anesthesia. The horse's owner observed a continuous dripping of urine and a tendency to mild colics beginning 2 weeks after birth. Testosterone concentration was 0.01 ng/ml and therefore under the threshold for geldings, and the horse did not respond to the application of gonadotropin-releasing hormone (GnRH). The inner genit...
Cytogenetic and genetic studies in a hypospadic horse (Equus caballus, 2n = 64). A 4-year-old male horse of Friesian breed with normal body conformation, development and libido, and showing an evident ventral penis deviation with hypospadias, underwent both cytogenetic and genetic investigation. Although the karyotype showed normal male arrangement (2n = 64,XY), one telomere of horse (ECA) chromosome 1 was shorter than both the other one and those of a normal horse (control), as revealed by CBA- and RBA-banding, and by Ag-NOR and FISH-mapping techniques using telomere PNA probes. Genetic investigation of the SRY and MAMLD1 coding sequences revealed a normal SRY sequence an...
Numerical sex chromosome aberrations and abnormal sex development in horse and sheep. Gonadal dysgenesis and heterosexual conditions are often associated with sex chromosome abnormalities. In this study we report on 2 cases of abnormal sex development involving numerical sex chromosome aberrations in both horse and sheep. A 17-month-old Standardbred filly was sent to an equine fertility centre as an embryo donor due to its reduced size, being much smaller than a racehorse filly of the same age, which excluded it from an athletic career. External genitalia were clinically normal but manual palpation of the reproductive tract showed the presence of a small underdeveloped uterus a...