Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation · 2026
A Case of Disorder of Sex Development in Red Deer (<italic>Cervus elaphus</italic>).
Клинический случайСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
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Ошибки и ограничения
История · было → стало
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Zacharski Maciej, Pieczka Katarzyna, Dzimira Stanisław
Аннотация
INTRODUCTION: Disorders of sex development (DSDs) are rare in free-ranging cervids and remain poorly documented.
CASE PRESENTATION: We describe a hunted red deer (Cervus elaphus) with well-developed antlers and male-typical morphology but female-like external genitalia, characterized by a hypertrophic clitoris/penile-like protrusion and absence of a scrotum. External genital tissues were available for histopathology, which revealed penile-type structures, including cavernous tissue and urethral-like epithelium. Genetic sex was assessed using PCR amplification of SRY and ZFX/ZFY markers from formalin-fixed, paraffin-embedded (FFPE) material. Due to the degraded DNA, we redesigned ZFY primers to yield a short amplicon suitable for compromised templates. PCR positivity for SRY and ZFY indicated the presence of Y-linked sequences. However, in the absence of internal reproductive organs, karyotyping and hormonal analyses, the etiology and DSD category cannot be determined, and chromosomal mosaicism or other Y-chromosome anomalies cannot be excluded.
CONCLUSION: This report documents an unusual phenotype in a free-ranging red deer and provides a practical short amplicon ZFY assay for sex marker detection in degraded samples. Both genetic and environmental causes of DSD were considered; however, no definitive etiology could be established.
CASE PRESENTATION: We describe a hunted red deer (Cervus elaphus) with well-developed antlers and male-typical morphology but female-like external genitalia, characterized by a hypertrophic clitoris/penile-like protrusion and absence of a scrotum. External genital tissues were available for histopathology, which revealed penile-type structures, including cavernous tissue and urethral-like epithelium. Genetic sex was assessed using PCR amplification of SRY and ZFX/ZFY markers from formalin-fixed, paraffin-embedded (FFPE) material. Due to the degraded DNA, we redesigned ZFY primers to yield a short amplicon suitable for compromised templates. PCR positivity for SRY and ZFY indicated the presence of Y-linked sequences. However, in the absence of internal reproductive organs, karyotyping and hormonal analyses, the etiology and DSD category cannot be determined, and chromosomal mosaicism or other Y-chromosome anomalies cannot be excluded.
CONCLUSION: This report documents an unusual phenotype in a free-ranging red deer and provides a practical short amplicon ZFY assay for sex marker detection in degraded samples. Both genetic and environmental causes of DSD were considered; however, no definitive etiology could be established.