{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T04:54:18Z","timestamp":1792817658044,"version":"4.5.0"},"reference-count":12,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2018,6,24]]},"abstract":"<jats:p>The differential diagnosis of a girl presenting with primary amenorrhoea includes numerous conditions. Often, patients of 46XY disorder of sex development (DSD) are reared as girl and present with primary amenorrhoea. Their further evaluation to reach the final diagnosis is often a great challenge. In this article, we report a challenging case of 46XY DSD presented with primary amenorrhoea. Patient had spontaneous breast development which initially confused the diagnosis to complete androgen insensitivity syndrome. However, low testosterone suggested against this possibility and further evaluation revealed hormonal findings consistent with 17\u03b1 hydroxylase\/17,20 lyase (CYP17A1) deficiency. Patient had 46XY karyotype and in consistence with hormonal findings patient was found to have a likely pathogenic homozygous c.1345C&gt;T (p.Arg449Cys) variation in exon 8 of<jats:italic>CYP17A1<\/jats:italic>.<\/jats:p>","DOI":"10.1136\/bcr-2018-225447","type":"journal-article","created":{"date-parts":[[2018,7,12]],"date-time":"2018-07-12T05:16:39Z","timestamp":1531372599000},"page":"bcr-2018-225447","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":5,"title":["A challenging case of primary amenorrhoea"],"prefix":"10.1136","volume":"2018","author":[{"given":"Vijaya","family":"Sarathi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ramesh","family":"Reddy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sridevi","family":"Atluri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Channabasappa","family":"Shivaprasad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2018,7,11]]},"reference":[{"key":"2025042705312156000_2018.jul10_1.bcr-2018-225447.1","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1097\/OGX.0000000000000111","article-title":"Primary amenorrhea: diagnosis and management","volume":"69","author":"Marsh","year":"2014","journal-title":"Obstet Gynecol Surv"},{"key":"2025042705312156000_2018.jul10_1.bcr-2018-225447.2","doi-asserted-by":"crossref","unstructured":"Sarathi V . Approach to a child with disorder of sex development. In: Vasudev AS , Shah NK , eds. Algorithms in pediatrics. 1st edn. New Delhi: Jaypee Brothers, 2017:549\u201355.","DOI":"10.5005\/jp\/books\/13030_113"},{"key":"2025042705312156000_2018.jul10_1.bcr-2018-225447.3","unstructured":"Achermann JC , Hughes IA . et al Disorders of sex development. In: Melmed S , Polonsky KS , Larsen PR , Kronenberg HM , . eds. Williams textbook of endocrinology. Philadelphia: Elsevier Saunders, 2011:900\u20132."},{"key":"2025042705312156000_2018.jul10_1.bcr-2018-225447.4","doi-asserted-by":"publisher","DOI":"10.1016\/j.jsbmb.2016.02.002"},{"key":"2025042705312156000_2018.jul10_1.bcr-2018-225447.5","doi-asserted-by":"crossref","first-page":"bcr-2016-219082","DOI":"10.1136\/bcr-2016-219082","article-title":"Female phenotype with male karyotype: a clinical enigma","volume":"2017","author":"Sukumar","year":"2017","journal-title":"BMJ Case Rep"},{"key":"2025042705312156000_2018.jul10_1.bcr-2018-225447.6","doi-asserted-by":"crossref","first-page":"127","DOI":"10.4103\/2230-8210.81945","article-title":"17-\u03b1-Hydroxylase deficiency: An unusual case with primary amenorrhea and hypertension","volume":"15","author":"Kota","year":"2011","journal-title":"Indian J Endocrinol Metab"},{"key":"2025042705312156000_2018.jul10_1.bcr-2018-225447.7","first-page":"e148","article-title":"Congenital adrenal hyperplasia masquerading as periodic paralysis in an adolescent girl","volume":"53","author":"Sathya","year":"2012","journal-title":"Singapore Med J"},{"key":"2025042705312156000_2018.jul10_1.bcr-2018-225447.8","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1111\/j.1479-828X.2004.00275.x","article-title":"17-Alpha hydroxylase deficiency: an unusual cause of secondary amenorrhoea","volume":"44","author":"Philip","year":"2004","journal-title":"Aust N Z J Obstet Gynaecol"},{"key":"2025042705312156000_2018.jul10_1.bcr-2018-225447.9","doi-asserted-by":"crossref","first-page":"e322","DOI":"10.4158\/EP161551.CR","article-title":"17-\u03b1-Hydroxylase deficiency due to p.r362c mutation in two sisters from INDIA","volume":"3","author":"Roy","year":"2017","journal-title":"AACE Clin Case Rep"},{"key":"2025042705312156000_2018.jul10_1.bcr-2018-225447.10","doi-asserted-by":"crossref","first-page":"234","DOI":"10.3109\/09513590.2011.593665","article-title":"Molecular study of five Chinese patients with 46XX partial 17a-hydroxylase\/17,20-lyase deficiency","volume":"28","author":"Tian","year":"2012","journal-title":"Gynecol Endocrinol"},{"key":"2025042705312156000_2018.jul10_1.bcr-2018-225447.11","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M114.608919"},{"key":"2025042705312156000_2018.jul10_1.bcr-2018-225447.12","doi-asserted-by":"publisher","DOI":"10.1016\/j.jsbmb.2004.07.005"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2018-225447","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,27]],"date-time":"2025-04-27T12:31:30Z","timestamp":1745757090000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2018-225447"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,7,11]]},"references-count":12,"alternative-id":["10.1136\/bcr-2018-225447"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2018-225447","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,7,11]]}}}