{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:48:41Z","timestamp":1777495721032,"version":"3.51.4"},"reference-count":21,"publisher":"BMJ","issue":"5","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2021,4,20]]},"published-print":{"date-parts":[[2021,5]]},"abstract":"<jats:p>Complete androgen insensitivity syndrome (CAIS)\u2014resulting in 46,XY karyotype, but female phenotype\u2014is a disorder of sex development and primary amenorrhea, but its effect on bone mineral density (BMD) is singular and difficult to manage. Androgens are an important modulator of bone remodeling and health, and the androgen receptor (AR) is pivotal for signaling within the bone cells. CAIS results in a severely disrupted AR throughout the body, causing an elevated risk of early osteoporosis. Timing of gonadectomy and hormone replacement therapy protocols are not established, creating a wide variety of treatment plans and BMD profiles. Our objective is to report a patient with CAIS status post prepubertal orchiectomy that developed early osteoporosis and to describe the lack of optimal strategies and consensus available to improve bone health in this population. Additionally, our case illustrates the fact there are no guidelines advocating the use of newer drugs for osteoporosis in this population.<\/jats:p>","DOI":"10.1136\/bcr-2021-241968","type":"journal-article","created":{"date-parts":[[2021,5,12]],"date-time":"2021-05-12T13:17:06Z","timestamp":1620825426000},"page":"e241968","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["Dilemmas in management of osteoporosis in patients with complete androgen insensitivity syndrome"],"prefix":"10.1136","volume":"14","author":[{"given":"Tanner","family":"Slayden","sequence":"first","affiliation":[{"name":"Department of Internal Medicine, Walter Reed National Military Medical Center, Bethesda, Maryland, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth M","family":"Bauer","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Diabetes & Metabolism, Walter Reed National Military Medical Center, Bethesda, Maryland, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamed KM","family":"Shakir","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Diabetes & Metabolism, Walter Reed National Military Medical Center, Bethesda, Maryland, USA"},{"name":"Department of Medicine, Uniformed Services University of the Health Sciences F Edward Hebert School of Medicine, Bethesda, Maryland, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7437-5604","authenticated-orcid":false,"given":"Thanh Duc","family":"Hoang","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Diabetes & Metabolism, Walter Reed National Military Medical Center, Bethesda, Maryland, USA"},{"name":"Department of Medicine, Uniformed Services University of the Health Sciences F Edward Hebert School of Medicine, Bethesda, Maryland, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2021,5,12]]},"reference":[{"key":"2025082802305711000_14.5.e241968.1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.85.3.1032"},{"key":"2025082802305711000_14.5.e241968.2","unstructured":"Gottlieb B , Trifiro MA . Androgen Insensitivity Syndrome. In: Adam MP , Ardinger HH , Pagon RA , et al , eds. GeneReviews\u00ae [Internet]. Seattle, WA: University of Washington, Seattle, 1999: 1993\u20132020."},{"key":"2025082802305711000_14.5.e241968.3","doi-asserted-by":"crossref","DOI":"10.3390\/ijms22031264","article-title":"Complete androgen insensitivity syndrome: from bench to bed","volume":"22","author":"Tyutyusheva","year":"2021","journal-title":"Int J Mol Sci"},{"key":"2025082802305711000_14.5.e241968.4","unstructured":"World Health Organization . WHO scientific group on the assessment of osteoporosis at the primary health care level: summary meeting report; May 5\u20137, 2004, Brussels, Belgium, Geneva, 2007."},{"key":"2025082802305711000_14.5.e241968.5","doi-asserted-by":"crossref","DOI":"10.3390\/ijerph16071268","article-title":"Different clinical presentations and management in complete androgen insensitivity syndrome (CAIS)","volume":"16","author":"Lanciotti","year":"2019","journal-title":"Int J Environ Res Public Health"},{"key":"2025082802305711000_14.5.e241968.6","doi-asserted-by":"publisher","DOI":"10.1002\/path.1890"},{"key":"2025082802305711000_14.5.e241968.7","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1111\/cen.13368","article-title":"Bone mineral density in complete androgen insensitivity syndrome and the timing of gonadectomy","volume":"87","author":"King","year":"2017","journal-title":"Clin Endocrinol"},{"key":"2025082802305711000_14.5.e241968.8","doi-asserted-by":"crossref","first-page":"1318","DOI":"10.3390\/cells8111318","article-title":"Androgens and androgen receptor actions on bone health and disease: from androgen deficiency to androgen therapy","volume":"8","author":"Chen","year":"2019","journal-title":"Cells"},{"key":"2025082802305711000_14.5.e241968.9","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2005-2809"},{"key":"2025082802305711000_14.5.e241968.10","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/13.10.2816"},{"key":"2025082802305711000_14.5.e241968.11","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-08-0166"},{"key":"2025082802305711000_14.5.e241968.12","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1097\/MED.0b013e328339658c","article-title":"Androgens and osteoporosis","volume":"17","author":"Ebeling","year":"2010","journal-title":"Curr Opin Endocrinol Diabetes Obes"},{"key":"2025082802305711000_14.5.e241968.13","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1111\/j.1365-2265.1995.tb00533.x","article-title":"Osteopenia as a feature of the androgen insensitivity syndrome","volume":"43","author":"Soule","year":"1995","journal-title":"Clin Endocrinol"},{"key":"2025082802305711000_14.5.e241968.14","doi-asserted-by":"publisher","DOI":"10.1007\/BF00298426"},{"key":"2025082802305711000_14.5.e241968.15","doi-asserted-by":"publisher","DOI":"10.1210\/jc.82.2.576"},{"key":"2025082802305711000_14.5.e241968.16","doi-asserted-by":"publisher","DOI":"10.1159\/000023296"},{"key":"2025082802305711000_14.5.e241968.17","doi-asserted-by":"publisher","DOI":"10.1007\/s00198-006-0243-6"},{"key":"2025082802305711000_14.5.e241968.18","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2009.04.198"},{"key":"2025082802305711000_14.5.e241968.19","doi-asserted-by":"crossref","first-page":"1145","DOI":"10.1515\/jpem-2012-0135","article-title":"A case of complete androgen insensitivity syndrome with a novel androgen receptor mutation","volume":"25","author":"Chin","year":"2012","journal-title":"J Pediatr Endocrinol Metab"},{"key":"2025082802305711000_14.5.e241968.20","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1530\/EJE-19-0383","article-title":"Bone mineral density, body composition and metabolic profiles in adult women with complete androgen insensitivity syndrome and removed gonads using oral or transdermal estrogens","volume":"181","author":"Gava","year":"2019","journal-title":"Eur J Endocrinol"},{"key":"2025082802305711000_14.5.e241968.21","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1159\/000477599","article-title":"Bone mineral density in women living with complete androgen insensitivity syndrome and intact testes or removed gonads","volume":"11","author":"Bertelloni","year":"2017","journal-title":"Sex Dev"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2021-241968","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T09:31:04Z","timestamp":1756373464000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2021-241968"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,5]]},"references-count":21,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2021,5,12]]},"published-print":{"date-parts":[[2021,5]]}},"alternative-id":["10.1136\/bcr-2021-241968"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2021-241968","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,5]]}}}