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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 was retained, but its full functionality was questionable. PCR analysis revealed that the entire male-specific region of Y (Yq14), including the SRY gene, was deleted. It remained unclear if the pseudoautosomal region (Yq15) and parts of the heterochromatic region (Yq13) were affected by this deletion. The phenotype of the mare with this disorder of sex development associated with sex chromosome abnormalities is genetically comparable to 63,X monosomy which fully explains the clinical findings.

The present case report describes a female cotton-top tamarin which was taken over by the Zoo Basel to form a new breeding pair. The animal demonstrated increased marking behavior without any obvious medical reasons, dominant behavior, failure to become pregnant and its external genitals were ambiguous. A disorder of the sexual development (DSD) was suspected by the zoo veterinarians and in a first step, the chromosomes of the monkey were analyzed. Six cell lines with different karyotypes were observed. The two most frequent cell lines had a 46,XX or a 46,XY karyotype which are normal chromosome complements of female and male cotton-top tamarins, respectively. The other much less frequent cell lines showed numerical aberrations with and without a marker chromosome. Specific biological features of the Callitrichidae, such as natural twinning and genetic chimerism impeded the clarification of the pathogenesis and prevented a reliable prognosis on the fertility of the cotton-top tamarin.Dieser Fallbericht beschreibt ein als Weibchen registriertes Lisztäffchen (Saguinus oedipus), das vom Zoo Basel als Zuchttier übernommen wurde. Aufgrund häufigen Markierens ohne ersichtlichen medizinischen Grund, dominanten Verhaltens, fehlender Fruchtbarkeit und eines phänotypisch nicht eindeutigen äusseren Genitales wurde von den Zootierärzten die vorläufige Verdachtsdiagnose auf eine Störung der Geschlechtsentwicklung gestellt. In einem ersten Schritt wurden die Chromosomen des Äffchens untersucht. Es konnten 6 Zell-Linien mit unterschiedlichen Karyotypen nachgewiesen werden. Am häufigsten wurden die beiden Karyotypen 46,XX und 46,XY beobachtet, die für weibliche bzw. männliche Lisztäffchen normal sind. Die anderen weit weniger häufigen Zell-Linien wiesen numerische Veränderungen der diploiden Chromosomenzahl mit und ohne Marker-Chromosom auf. Biologische Besonderheiten der Krallenaffen, wie Mehrlingsträchtigkeit und genetischer Chimärismus erschwerten die Aufklärung der Pathogenese und verhinderten eine verlässliche Prognose zur Fruchtbarkeit des Lisztäffchens.

Mutations in the gene encoding Gasdermin A3 (Gsdma3) have been described to cause severe skin phenotypes, including loss of sebaceous glands and alopecia, in mice. We discovered a novel C-terminal mutation in Gsdma3 in a new mouse line and characterized a less frequently reported corneal phenotype, likely caused by degeneration of Meibomian glands of the inner eyelid.We used histologic methods to evaluate the effects of the C+/H- mutation on sebaceous gland and skin morphology as well as Meibomian glands of the inner eyelid and corneal tissue. Chromosomal aberrations were excluded by karyogram analyses. The mutation was identified by Sanger sequencing of candidate genes.Analyses of skin samples from affected mice confirmed the frequently reported phenotypes associated with mutations in Gsdma3: Degeneration of sebaceous glands and complete loss of pelage. Immunologic staining of corneal samples suggested an inflammatory response with signs of neovascularization in half of the affected older mice. While the corneal phenotype was observed at irregular time points, mainly after 6 months, its appearance coincided with a degeneration of Meibomian glands in the eyelids of affected animals.The mutation described herein is associated with inflammation and neovascularization of corneal tissue. Simultaneous degeneration of Meibomian glands in affected animals suggested a change in tear-film composition as the underlying cause for the corneal phenotype. Our data further support that different pathogenic mechanisms underlie some of the reported mutations in Gsdma3.

The present case report describes a 6-year old subfertile pony mare, which became pregnant after the eleventh artificial insemination. The examination of the ovaries and the uterus did not reveal any abnormal clinical findings and the mare showed a regular oestrous cycle. Based on cytogenetic and molecular genetic analyses it became possible to elucidate the observed subfertility. The mosaic karyotype of the mare consisted of 63,X (20%) and 64,XX (80%) cells. A PCR analysis failed to amplify sequences from the equine SRY gene. The observed classic 63,X/64,XX mosaicism is a plausible explanation for the subfertility of the mare.Der vorliegende Fallbericht beschreibt eine 6 Jahre alte subfertile Stute der Rasse Ponystute, die erst nach der elften künstlichen Besamung tragend wurde. Die klinische Untersuchung der Ovarien und des Uterus waren ohne besonderen Befund und die Stute zeigte einen regelmässigen Zyklus. Aufgrund von zytogenetischen und molekulargenetischen Untersuchungen wurde es möglich, eine plausible Ursache für die Subfertilität zu ermitteln. Der Karyotyp der Ponystute setzte sich aus zwei Zelllinien zusammen: In 20% der Zellen wurde eine Monosomie X nachgewiesen (63,X) und in 80% der Zellen war der Karyotyp normal (64,XX). Eine PCR-Analyse für den Nachweis von Sequenzen des equinen SRY Gen war negativ. Es handelte sich also um einen klassischen Fall einer mosaiken Form von Monosomie X, die eine offensichtliche Erklärung für die Subfertilität der Stute liefert.

A 23-month-old tomcat was referred to our clinic because of male behavioral problems, cryptorchidism, and an undefined intra-abdominal organ resembling a uterus. Ultrasonography and computed tomography showed 2 fluid-filled tubular structures dorsolaterally to the bladder and connected to the pelvic urethra. The cat was castrated, and the tubular structures were surgically removed. Histology identified them as Müllerian duct remnants. The testes were hypoplastic, the epididymes and deferent ducts were normal. Cytogenetic analyses revealed the presence of a mosaic 37,X/38,XY karyotype which explains the clinical findings.