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This case report describes a young female with a rare combination of 46,XX gonadal dysgenesis and MRKH syndrome, highlighting associated infertility challenges.

In this case report, an 18-year-old Vietnamese female with primary amenorrhea and normal female phenotype was most likely diagnosed with müllerian agenesis, highlighting its association with embryologic underdevelopment of the müllerian duct.

This study evaluated 23 cases of MRKH syndrome undergoing neo-vaginal reconstruction using islanded pudendal thigh flaps, finding a 100% flap survival and patency rate, along with satisfactory functional and aesthetic outcomes despite minor issues like hair growth in some patients.

This chapter reviews genetic defects in female sexual differentiation, focusing on 46,XX disorders of sex development and the impact of genetic factors and sex steroids on development, but reports no new clinical findings.

This review discusses the onset of menstruation and related challenges in young women, with a focus on primary amenorrhea, its diagnosis, and management strategies, and reports no new clinical findings.