Abstract 14
November 2014
in “
Indian Journal of Endocrinology and Metabolism
”
TLDR A 15-year-old girl with rare reproductive disorders received hormone therapy to develop secondary sexual traits, but infertility persisted.
This document reported a rare case of a 15-year-old female with both 46,XX gonadal dysgenesis and MRKH syndrome, characterized by primary amenorrhea, absence of secondary sexual characteristics, and congenital absence of the uterus and upper vagina. Despite normal intelligence and no family history of similar conditions, the patient exhibited elevated follicle-stimulating and luteinizing hormone levels with low estradiol, indicating hypergonadotropic hypogonadism. Hormonal therapy with ethinyl estradiol was initiated to develop secondary sexual characteristics and prevent osteoporosis, but infertility remained unresolved. The document discussed the potential embryological and genetic factors contributing to these conditions, including the role of estrogens and antimullerian hormone receptors.