{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T16:40:07Z","timestamp":1756312807834,"version":"3.44.0"},"reference-count":32,"publisher":"BMJ","issue":"3","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2019,2,15]]},"published-print":{"date-parts":[[2019,3]]},"abstract":"<jats:p>Turner syndrome is a relatively common chromosomal abnormality presenting as primary amenorrhoea in gynaecological and endocrine clinics, caused by complete or partial X monosomy in some or all cells. Mayer-Rokitansky-Kuster-Hauser syndrome is another common cause of primary amenorrhoea characterised by Mullerian agenesis of varying degrees. We report a case of an 18-year-old girl, who presented with primary amenorrhoea, absence of secondary sexual characteristics and short stature. Hormonal profile confirms hypergonadotrophic hypogonadism. Karyotyping was consistent with Turner syndrome (45,XO). In addition, radiological imaging of the pelvis showed the absence of both ovaries as well as the uterus, cervix and vagina. This patient had therefore presented with two different syndromes as the cause of her primary amenorrhoea, which is extremely rare in a single patient. Moreover, oestrogen replacement therapy will trigger the development of secondary sexual characteristic and promote bone growth, but induction of menstruation and fertility is impossible.<\/jats:p>","DOI":"10.1136\/bcr-2018-228148","type":"journal-article","created":{"date-parts":[[2019,3,16]],"date-time":"2019-03-16T04:59:59Z","timestamp":1552712399000},"page":"e228148","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Primary amenorrhoea secondary to two different syndromes: a case study"],"prefix":"10.1136","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3422-9359","authenticated-orcid":false,"given":"Zareen","family":"Kiran","sequence":"first","affiliation":[{"name":"National Institute of Diabetes and Endocrinology, Department of Medicine, Dow University of Health Sciences, Karachi, Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tayyaba","family":"Jamil","sequence":"additional","affiliation":[{"name":"National Institute of Diabetes and Endocrinology, Department of Medicine, Dow University of Health Sciences, Karachi, Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2019,3,15]]},"reference":[{"key":"2025082709181682000_12.3.e228148.1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2006-1374"},{"key":"2025082709181682000_12.3.e228148.2","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1002\/ajmg.a.32645","article-title":"Primary hypogonadism, partial alopecia, and Mullerian hypoplasia: report of a third family and review","volume":"149A","author":"Tatar","year":"2009","journal-title":"Am J Med Genet A"},{"key":"2025082709181682000_12.3.e228148.3","doi-asserted-by":"crossref","first-page":"277","DOI":"10.4103\/0974-1208.126313","article-title":"A rare case of 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