Endocrine Abstracts

IntroductionPartial gonadal dysgenesis (PGD) is one of the rare 46, XY disorders of sex development (DSD), associated with variable degrees of impaired testicular development and function. Phenotypic appearance is related to the level of functional testicular hormones. Usually PGD is diagnosed in infancy because of significant genital anomaly at birth, however, spontaneous puberty is seen in up to 57% of all 46, XY PGD cases. Bilateral gonadectomy is per...

Introduction: Androgen insensitivity syndrome rare X linked disorder that is typically characterized by evidence of feminization of the external genitalia at birth, abnormal secondary sexual development in puberty, and infertility in individuals with a 46,XY karyotype. Complete androgen insensitivity syndrome (CAIS) usually is recognized only at the teenage age due to primary amenorrhea. Recently, gonadectomy for patients with CAIS are postponed due to a mild risk of malignanc...