Original articleEmbryonic testicular regression syndrome: Variable phenotypic expression in siblings**
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Cited by (67)
Genetics of 46,XY gonadal dysgenesis
2022, Best Practice and Research: Clinical Endocrinology and MetabolismCitation Excerpt :Genetic studies support this with variants flanking the HMG-box associated with a milder phenotype of infertility [64]. TRS is characterized by anomalies of genitalia and sexual duct formation and absence of gonadal tissue on one or both sides in 46,XY individuals [66–68]. Families have been described with the occurrence of both TRS and 46,XY GD or agonadism, indicating a common genetic origin for these phenotypes [69,70].
Nonneoplastic Diseases of the Testis
2020, Urologic Surgical PathologyPathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome
2020, Genetics in MedicineCitation Excerpt :46,XY partial gonadal dysgenesis is characterized by partially developed internal ducts usually consisting of a mixture of Wolffian (epididymis, vas deferens, and seminal vesicle) and Müllerian ducts (fallopian tube, uterus, and upper third of the vagina) with varying degrees of virilization of the external genitalia depending on the amount of testicular tissue present.2 46,XY testicular regression syndrome (TRS) is defined by a 46,XY chromosome complement, ambiguous or atypical genitalia, anomalies of sexual duct formation, and absence of gonadal tissue on one or both sides (MIM 273250).3-5 Some boys with TRS are born with normal external genitalia but present with cryptorchidism and may even have one or both palpable testes that subsequently involute.
Embryonic Testicular Regression Syndrome Presenting as Primary Amenorrhea: A Case Report and Review of Disorders of Sexual Development
2016, Journal of Pediatric and Adolescent GynecologyCitation Excerpt :Similarly, the timing of testicular regression determines the way internal genitalia differentiate, resulting in the presence of only female internal genital structures, both male and female genital structures, or most commonly male internal genital structures. Testicular loss is usually sporadic and attributed commonly to antenatal vascular accident or testicular torsion on the basis of histological findings1; however, familial cases have been described.6 In a review of the literature very few reports of early embryonic testicular regression resulting in phenotypic female appearance of the external genitalia were found.
Ambiguous genitalia
2014, Pediatric Endocrinology: Fourth EditionThe Persistent Müllerian Duct Syndrome
2014, Genetic Steroid Disorders
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