{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T23:21:47Z","timestamp":1772580107141,"version":"3.50.1"},"reference-count":33,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,7,27]],"date-time":"2020-07-27T00:00:00Z","timestamp":1595808000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100009331","name":"Beijing Municipal Administration of Hospitals Clinical Medicine Development of Special Funding Support","doi-asserted-by":"publisher","award":["ZYLX201821"],"award-info":[{"award-number":["ZYLX201821"]}],"id":[{"id":"10.13039\/501100009331","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Aromatase deficiency (AD) caused by cytochrome P450 family 19 subfamily A polypeptide 1 (<jats:italic>CYP19A1<\/jats:italic>) variants is characterized by a deficiency in androgen\u2010to\u2010oestrogen conversion.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>To investigate the clinical characteristics and accurate management of aromatase\u2010deficient children.<\/jats:p><\/jats:sec><jats:sec><jats:title>Patients and methods<\/jats:title><jats:p>We described three 46, XX aromatase\u2010deficient children, searched PubMed with \u201c(aromatase deficiency) AND (46, XX OR ovaries)\u201d and manually searched citations in identified studies for the literature review.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Two girls and one boy (3.4\u20109.2\u00a0years) with the 46, XX karyotype presented ambiguous genitalia and maternal antenatal virilization, normal\u2010low height, delayed bone age, normal glucose and lipid profiles, markedly elevated follicle\u2010stimulating hormone (FSH) levels and poor oestradiol responses to human menopausal gonadotropin stimulation. Ultrasound revealed normal\u2010sized uterus and ovaries with undetectable follicles. Histopathology revealed primordial follicles and few primary follicles in ovaries. One patient presented granulosa and follicular membrane cell proliferation and interstitial sclerosis. We identified four <jats:italic>CYP19A1<\/jats:italic> variants; c.146_158del and c.344G &gt;A were unreported. We reviewed available data from thirty 46, XX patients (0.2\u201032\u00a0years). Some patients were not diagnosed until puberty\/adulthood; three were initially misdiagnosed with congenital adrenocortical hyperplasia. The main characteristics were maternal antenatal virilization (21\/29), ambiguous genitalia (mainly Prader IV or III, 19\/23), delayed bone age (16\/17), low bone mass (5\/8), markedly elevated FSH levels and ovarian cysts (13\/30).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>46, XX AD is easily neglected or misdiagnosed. Ambiguous genitalia, maternal antenatal virilization and markedly elevated FSH levels are important diagnostic indicators. We described two novel variants, new histopathological features of ovaries and an early management strategy.<\/jats:p><\/jats:sec>","DOI":"10.1111\/cen.14277","type":"journal-article","created":{"date-parts":[[2020,7,5]],"date-time":"2020-07-05T14:58:53Z","timestamp":1593961133000},"page":"687-695","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Aromatase deficiency: A case series of 46, XX Chinese children and a systematic review of the literature"],"prefix":"10.1111","volume":"93","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6257-3395","authenticated-orcid":false,"given":"Lijun","family":"Fan","sequence":"first","affiliation":[{"name":"Department of Endocrinology, Genetics, Metabolism Beijing Children's Hospital National Center for Children's Health Capital Medical University Beijing China"},{"name":"Beijing Key Laboratory for Genetics of Birth Defects Beijing Children's Hospital National Center for Children's Health Capital Medical University Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8433-2381","authenticated-orcid":false,"given":"Beibei","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Genetics, Metabolism Beijing Children's Hospital National Center for Children's Health Capital Medical University Beijing China"},{"name":"Beijing Key Laboratory for Genetics of Birth Defects Beijing Children's Hospital National Center for Children's Health Capital Medical University Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8291-6810","authenticated-orcid":false,"given":"Lele","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Genetics, Metabolism Beijing Children's Hospital National Center for Children's Health Capital Medical University Beijing China"},{"name":"Beijing Key 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