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At age 15 years, she presented with lower abdominal pain, absent breast development, primary amenorrhea, and multicystic ovaries. The natural history of complete estrogen insensitivity (CEI) in women is unknown.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>The purpose of this report is to present the neuroendocrine phenotype of CEI, identify potential ligands, and determine the effect of targeted treatment.<\/jats:p><\/jats:sec><jats:sec><jats:title>Design<\/jats:title><jats:p>We have characterized gonadotropin pulsatility and followed this patient\u2019s endocrine profile and bone density over 8 years. Seventy-five different compounds were tested for transactivation of the variant receptor. A personalized medicine approach was tailored to our patient.<\/jats:p><\/jats:sec><jats:sec><jats:title>Setting<\/jats:title><jats:p>Academic medical center.<\/jats:p><\/jats:sec><jats:sec><jats:title>Patient or Other Participants<\/jats:title><jats:p>A 24-year-old adopted white female with CEI.<\/jats:p><\/jats:sec><jats:sec><jats:title>Intervention(s)<\/jats:title><jats:p>The patient was treated with diethylstilbestrol (DES) for approximately 2.5 years.<\/jats:p><\/jats:sec><jats:sec><jats:title>Main Outcome Measure(s)<\/jats:title><jats:p>Induction of secondary sexual characteristics.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Luteinizing hormone (LH) pulse studies demonstrated normal pulsatile LH secretion, elevated mean LH, and mildly elevated mean follicle-stimulating hormone (FSH) in the presence of markedly increased estrogens. DES transactivated the variant ESR1 in vitro. However, DES treatment did not induce secondary sexual characteristics in our patient.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Treatment with DES was not successful in our patient. She remains hypoestrogenic despite the presence of ovarian cysts with a hypoestrogenic vaginal smear, absent breast development, and low bone mineral mass. Findings suggest additional receptor mechanistic actions are required to elicit clinical hormone responses.<\/jats:p><\/jats:sec>","DOI":"10.1210\/clinem\/dgaa106","type":"journal-article","created":{"date-parts":[[2020,3,10]],"date-time":"2020-03-10T07:27:22Z","timestamp":1583825242000},"page":"1478-1488","source":"Crossref","is-referenced-by-count":7,"title":["Long-Term Follow-Up and Treatment of a Female With Complete Estrogen Insensitivity"],"prefix":"10.1210","volume":"105","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2481-7894","authenticated-orcid":false,"given":"Soumia","family":"Brakta","sequence":"first","affiliation":[{"name":"Medical College of Georgia at Augusta University, Section of Reproductive Endocrinology, Infertility, & Genetics, Augusta, Georgia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lynn P","family":"Chorich","sequence":"additional","affiliation":[{"name":"Medical College of Georgia at Augusta University, Section of Reproductive 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