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.
The document reported a case of a 15-year-old female with 46,XX gonadal dysgenesis and Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, a rare combination of conditions. The patient presented with primary amenorrhea and absence of secondary sexual characteristics. Medical examinations revealed the absence of a uterus and ovaries, a horseshoe-shaped kidney, and elevated levels of follicle-stimulating and luteinizing hormones, with low estradiol levels. Hormonal therapy was initiated to develop secondary sexual characteristics and prevent osteoporosis, but infertility remained unresolved. The discussion suggested that mutations affecting estrogen receptors and antimullerian hormone receptors might contribute to MRKH syndrome, impacting fertility both mechanically and hormonally.