Sex Chromosome and Chromatin Examination in Gynecology

Abstract

Sex chromosome and chromatin examinations with hormone determinations were done on 41 cases seen at the gynecologic clinic suspected of having sexual developmental abnormalities. 22 (53.7%) had genetic, gonadal or hormonal abnormalities, including ovarian dysgenesis 9 cases, superfemale 1 case, XY pure gonadal dysgenesis 4 cases, 3 of whom had already developed gonadal malignancy, pseudovaginal perineoscrotal hypospadias 1 case, androgen insensitivity syndrome 2 cases and congenital adrenal hyperplasia 3 cases. The values and limitations of sex chromosome and chromatin examinations as well as the prevention of gonadal malignancy are discussed.

Timing of gonadectomy in adult women with complete androgen insensitivity syndrome (CAIS): patient preferences and clinical evidence

“…The majority of papers included a range of diagnoses under the descriptive umbrella of ‘CAIS’ such as partial androgen insensitivity syndrome and gonadal dysgenesis (Swyer syndrome). The vast majority of evidence in the literature was case reports and reviews of these reports including some case reports of tumours 4–6 or small case series of women with CAIS reporting no tumours 7,8 . Case series with apparently limited ascertainment bias were found in 16 papers that included patients who met the criteria for a diagnosis of CAIS.…”

“…The vast majority of evidence in the literature was case reports and reviews of these reports including some case reports of tumours [4][5][6] or small case series of women with CAIS reporting no tumours. 7,8 Case series with apparently limited ascertainment bias were found in 16 papers that included patients who met the criteria for a diagnosis of CAIS. In four of these, we identified a repetition of cases 1,[9][10][11][12][13][14][15] and only additional cases from these papers were included in our summary.…”