Nadir KOÇAK, Çağlayan ÖZEL, Gonca ŞEN, Mustafa HİTİT, Ahmet SEMACAN, Ercan KURAR, Aydın GÜZELOĞLU

Bir keçide hermafroditizm olgusu: Klinik ve genetik yaklaşım

Bu vaka takdiminde, 2010 yılında Selçuk Üniversitesi, Veteriner Fakültesi, Doğum ve Jinekoloji Kliniğine getirilen ve hermafroditizm olgusu saptanan Maltız melezi bir keçinin klinik muayenesi ile sitogenetik ve moleküler genetik analizleri gerçekleştirildi. Anamnezde keçinin tek olarak doğduğu, klinik muayenede boynuzsuz, klitorisin 1.9x0.9 cm büyüklüğünde, vajinanın normalden daha kısa olduğu gözlendi. Palpasyon ve ultrasonografik muayenede inguinal bölgede, deri altında sağ (4.88 cm) ve sol (2.87 cm) testis tespit edildi. Meme ve meme başları normal konumunda ve büyüklükte belirlendi. Deri altı rüdimenter penis varlığı tespit edildi, ancak scrotum ve açık prepisyum gözlenmedi. Karyotip analizi için periferik kandan hazırlanan kromozom preparatları GTG bantlama tekniği ile boyanmış ve image analyzer programı ile uygun metafazlar belirlenerek analiz edildi. Kan örneğinden DNA izolasyonu geçekleştirildi, sex-determining region Y (SRY) ve amelogenin gen bölgeleri pozitif ve negatif kontroller kullanılarak polimeraz zincir reaksiyonu (PZR) ile yükseltgendi. Karyotip analizinde metafaz plağı 60,XY olarak tespit edildi. PZR analizlerinde SRY lokusu negatif, amelogenin lokusunda ise yalnızca AMX alleli tespit edildi. Keçilerde yaygın olarak gözlenen hermafroditizm vakalarının şekillenmesinde farklı mekanizmalar bildirilmektedir. Hermafroditizm vakalarının karyotip ve moleküler genetik analizler ile detaylı incelenmesi ve boynuzsuz keçilerin damızlıktan çıkarılması tavsiye edilmektedir.

A case report of hermaphrodite goat: Clinical and genetic approach

This case report describes clinical examination and cytogenetic and molecular genetic analyses of a hermaphrodite mixed Maltese breed goat that was referred to the Gynecology Clinic of the Faculty of Veterinary Medicine, Selcuk University in 2010. In anamnesis, goat was a single kid at the birth and was polled. Clitoris was 1.9x0.9 cm in size and vagina was shorter than normal. By palpation and ultrasonographic examination, it was determined that the right (4.88 cm) and left (2.87 cm) testicles were located under skin in the inguinal region. Breast and nipples were in normal size. There was a rudimentary penis located under skin but no scrotum or prepitium was observed. After chromosome preparation using peripheral blood samples and GTG staining, appropriate metaphases were analyzed using an image analyzer program. Genomic DNA was isolated from the blood sample. Sexdetermining region Y (SRY) and amelogenin gene regions were amplified using polymerase chain reaction (PCR) including positive and negative controls. In karyotype analysis, metaphase plaque was observed as 60,XY. In PCR analysis, no SRY amplification was determined and only AMX allele was observed for amelogenin locus. Hermaphroditism is widely observed in goats and a number different mechanisms were reported. It is suggested that polled rams should be culled and karyotype and molecular genetics analyses should be performed to evaluate hermaphrodite cases in detail.

PDF

___

Al-Ani FK, Khamas WA, Al-Qudah KM, et al., 1998. Occurren- ce of congenital anomalies in Shami breed goats: 211 cases investigated in 19 herds. Small Rumin Res, 28, 225-232.
Allais-Bonnet A, Grohs C, Medugorac I, et al., 2013. Novel in- sights into the bovine polled phenotype and horn ontoge- nesis in Bovidae. PLoS One, 8:e63512, DOI: 10.1371/jour- nal.pone.0063512.
Anonim 2014. Online Mendelian Inheritance of Animals (OMIA) 000483-9925: Polled/Horns in Capra hircus. http://omia.angis.org.au/OMIA000483/9925, Erişim tari- hi; 02.05.2014.
Arıcan İ, İnan S, Özyiğit G, et al., 2012. Bir keçide rastlantısal yalancı erkek hermafroditizm olgusu. Harran Üniv Vet Fak Derg, 1, 68-70.
Basrur PK, McKinnon AO, 1986. Caprine intersexes and free- martins. In; Current Therapy in Theriogenology, Ed; Mor- row DA, Saunders, Philadelphia, USA, pp: 596-600.
Basrur PK, Yadav BR, 1990. Genetic diseases of sheep and go- ats. Vet Clin North Am Small Anim Pract, 6, 779-802.
Basrur PK, Kochhar HS, 2007. Inherited Sex Abnormalities in Goats. In; Current Therapy in Large Animal Theriogeno- logy, Eds: Youngquist RS, Threlfall WR, 2nd Ed. Saunders, USA, pp: 590-594.
Batista M, Gonzalez F, Cabrera F, et al., 2000. True hermaph- roditism in a horned goat with 60XX/60XY chimerism. Can Vet J, 41, 562-564.
Bongso TA, Thavalingam M, Murkherjee TK, 1982. Interse- xuality associated with XX/XY mosaicism in horned goat. Cytogenet Cell Genet, 34, 315-319.
Boulanger L, Pannetier M, Gall L, et al., 2014. FOXL2 is a fe- male sex-determining gene in the Goat. Curr Biol, 24, 404-408.
Christensen BW, Drost M, Troedsson MT, 2009. Diseases of the Reproductive System. In; Large Animal Internal Medi- cine, Ed; Smith BP, 4th Ed. Elsevier, USA, pp: 1427-1470.
Dennis SM, 1993. Congenital abnormalities. Vet Clinic North Am Food Anim Pract, 9, 183-202.
Don RH, Cox PT, Wainwright BJ, et al., 1991. Touchdown PCR to circumvent spurious priming during gene amplification. Nucl Acid Res, 19, 4008.
Karan M, Üstündağ Y, Aydın M, 2011. Saanen ırkı bir oğlak- ta rastlanılan cyclopia, arhinia ve hermafroditizm olgusu. Kafkas Univ Vet Fak Derg, 17, 147-150.
Kijas JW, Ortiz JS, McCulloch R, et al., 2013. International Goat Genome Consortium, Genetic diversity and investigation of polledness in divergent goat populations using 52088 SNPs. Anim Genet, 44, 325-335.
Moorhead PS, Nowell PC, Mellman WJ, et al., 1960. Chromo- some preparations of leukocytes cultured from human pe- ripheral blood. Exp Cell Res, 20, 613-616.
Pailhoux E, Vigier B, Chaffaux S, et al., 2001. A 11.7-kb de- letion triggers intersexuality and polledness in goats. Nat Genet, 29, 453-458.
Pailhoux E, Vigier B, Schibler L, et al., 2005. Positional cloning of the PIS mutation in goats and its impact on understan- ding mammalian sex-differentiation. Genet Sel Evol, 37, S55-64.
Pourjafar M, Badiei K, Sharifiyazdi H, et al., 2012 Application of hormonal and single multiplex PCR assays for detection of freemartinism in a horned goat. İstanbul Üniv Vet Fak Derg, 38, 175-181.
Sambrook J, Fritsch EF, Maniatis T, 1989. Molecular Clonning: A Laboratory Manual. Second Edition, Volume 2, Cold- Spring Harbor, New York, USA, pp: 9.16-9.19.
Vaiman D, Pailhoux E, Schibler L, et al., 1997. Genetic map- ping of the polled/intersex locus (PIS) in goats. Therioge- nology, 47, 103-109.
Vaiman D, Schibler L, Oustry-Vaiman A, et al., 1999. High- resolution human/goat comparative map of the goat pol- led/intersex syndrome (PIS): The human homologue is contained in a human YAC from HSA3q23. Genomics, 56, 31-39