{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:44:02Z","timestamp":1761709442649,"version":"3.37.3"},"reference-count":21,"publisher":"Wiley","license":[{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Endocrinology"],"published-print":{"date-parts":[[2018]]},"abstract":"<jats:p><jats:italic>Context.<\/jats:italic>Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease due to specific enzyme deficiencies in the adrenal steroidogenesis pathway.<jats:italic>Case Description.<\/jats:italic>A 40-year-old Chinese woman was referred to the Endocrine Unit for the work-up of a syndrome characterized by long-lasting and multidrug resistant high blood pressure, severe hypokalemia with metabolic alkalosis, and primary amenorrhea. The patient presented with sexual infantilism, lack of breast development, absence of axillary and pubic hair, tall stature, and slenderness. CT scan revealed enlarged adrenal glands bilaterally and the absence of the uterus, the ovaries, and the Fallopian tubes. Furthermore, diffuse osteopenia and osteoporosis and incomplete ossification of the growth plate cartilages were demonstrated. Chromosomal analysis showed a normal male 46,XY, karyotype, and on molecular analysis of the<jats:italic>CYP17A1<\/jats:italic>gene she resulted homozygous for the g.4869T&gt;A; g.4871delC (p.Y329Kfs?) mutation in exon 6. Hydrocortisone and ethinyl-estradiol supplementation therapy led to incomplete withdrawal of antihypertensive drug and breast development progression to Tanner stage B2 and slight height increase, respectively.<jats:italic>Conclusions.<\/jats:italic>We describe a late-discovered case of CAH with 46,XY disorder of sex development. Deficiency of 17<jats:italic>\u03b1<\/jats:italic>-hydroxylase\/17,20-lyase due to a homozygous CYP17A1 gene mutation was the underlying cause. Laboratory, imaging, and genetic features are herein reported and discussed.<\/jats:p>","DOI":"10.1155\/2018\/2086861","type":"journal-article","created":{"date-parts":[[2018,4,24]],"date-time":"2018-04-24T19:30:59Z","timestamp":1524598259000},"page":"1-6","source":"Crossref","is-referenced-by-count":3,"title":["46,XY Disorder of Sex Development Caused by 17<i>\u03b1<\/i>-Hydroxylase\/17,20-Lyase Deficiency due to Homozygous Mutation of<i>CYP17A1<\/i>Gene: Consequences of Late Diagnosis"],"prefix":"10.1155","volume":"2018","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6051-0502","authenticated-orcid":true,"given":"Giampaolo","family":"Papi","sequence":"first","affiliation":[{"name":"Endocrinology Unit of the Northern Area, Azienda USL di Modena, Modena, Italy"},{"name":"Unit of Endocrinology, Universit\u00e0 Cattolica del Sacro Cuore and Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5070-7771","authenticated-orcid":true,"given":"Rosa Maria","family":"Paragliola","sequence":"additional","affiliation":[{"name":"Unit of Endocrinology, Universit\u00e0 Cattolica del Sacro Cuore and Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Concolino","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University of Sacred Heart, Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlo","family":"Di Donato","sequence":"additional","affiliation":[{"name":"Endocrinology Unit of the Northern Area, Azienda USL di Modena, Modena, Italy"},{"name":"Department of Internal Medicine, Azienda USL Modena, Modena, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alfredo","family":"Pontecorvi","sequence":"additional","affiliation":[{"name":"Unit of Endocrinology, Universit\u00e0 Cattolica del Sacro Cuore and Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Salvatore Maria","family":"Corsello","sequence":"additional","affiliation":[{"name":"Unit of Endocrinology, Universit\u00e0 Cattolica del Sacro Cuore and Fondazione Policlinico Universitario Agostino Gemelli, Rome, 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