Amir Mohammad Salehi

Rare presentations of Swyer syndrome in a 13.5-year-old female; a case report and literature review

Swyer syndrome (SS), or 46, XY pure gonadal dysgenesis, is a rare disorder of sex development. It typically presents with primary amenorrhea and an absence of secondary sexual characteristics. However, in rare cases, patients may exhibit atypical features such as spontaneous breast development and menstruation. This report details the case of a 13.5-year-old female with a 46, XY karyotype, fully developed secondary sexual characteristics, and unilateral gonadoblastoma. The primary clinical symptoms included generalized hirsutism and secondary amenorrhea, occurring ten months after experiencing two menstrual periods. Physical examination revealed a phenotypic female of normal height with apparently normal external genitalia but clitoromegaly. Breast and pubic hair development were at Tanner stage five. Noteworthy features included generalized hirsutism and a deep voice. Initial laboratory investigations showed follicle-stimulating hormone (FSH) at 0.39 mIU/mL, luteinizing hormone (LH) at 0.43 mIU/mL, testosterone at 1.96 ng/mL, and estradiol at 79.54 pg/mL. An abdominal computed tomography (CT) scan detected a 12 × 10 × 10.5 cm calcified mass on the left side of the pelvis, originating from the ovaries. Surgical excision of the mass, along with a left salpingo-oophorectomy, was performed. Histopathology confirmed the mass as a gonadoblastoma. Chromosomal analysis confirmed the diagnosis of XY pure gonadal dysgenesis (Swyer syndrome). This case highlights the importance of comprehensive genetic testing in females presenting with amenorrhea despite fully developed secondary sexual characteristics.

Global socioeconomic inequalities in breast, cervical, ovarian, and uterine cancers incidence, mortality, disability-adjusted life year’s rates: a relative concentration index analysis

This study examined the impact of the Human Development Index (HDI) on the incidence, mortality, and disability-adjusted life-year (DALY) rates of breast and gynecologic cancers in women worldwide. We obtained the 2021 cancer rates by country from the Global Burden of Disease website. Using relative concentration indices and concentration curves, we measured socioeconomic inequality in the mortality, incidence, and DALY rates of these four cancers. We also grouped countries based on their socioeconomic status as measured by the Human Development Index. The incidence, mortality, and DALY rates of uterine and ovarian cancer show higher values in countries with higher levels of HDI (all concentration indices were significantly higher than zero). On the other hand, the incidence, mortality and DALY rates of cervical cancer were more concentrated in countries with lower levels of HDI (all concentration indices were significantly less than zero). No socioeconomic inequality was observed in breast cancer mortality (RCI = 0, 95% confidence interval (CI) = -0.03 to 0.04), there was no significant inequality in breast cancer DALY rates (RCI = 0.02, 95% CI: -0.02 to 0.06), and only breast cancer incidence was significantly concentrated in countries with a high HDI (RCI = 0.09, 95% CI: 0.06 to 0.13). Our study showed that socioeconomic inequalities exist in the distribution of mortality and morbidity from breast and gynecological cancers. Health care policies and facilities to reduce socioeconomic inequalities should focus on areas of high burden.