{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T17:08:52Z","timestamp":1790874532861,"version":"4.1.0"},"reference-count":19,"publisher":"The Endocrine Society","issue":"2","license":[{"start":{"date-parts":[[2019,11,18]],"date-time":"2019-11-18T00:00:00Z","timestamp":1574035200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,2,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Isolated 17,20-lyase deficiency may be caused by mutations in the CYP17A1 (coding for cytochrome P450c17), POR (coding for cytochrome P450 oxidoreductase) and CYB5A (coding for microsomal cytochrome b5) genes. Of these, mutations in the CYB5A gene have thus far only been described in genetic males who presented with methemoglobinemia and 46,XY disorders of sex development (DSD) due to 17,20-lyase deficiency.<\/jats:p>\n               <jats:p>A 24-year-old Chinese woman presented to the hematology outpatient clinic with purplish discoloration of fingers, toes, and lips since childhood. Investigations confirmed methemoglobinemia. A homozygous c.105C&amp;gt;G (p.Tyr35Ter) nonsense mutation was detected in the CYB5A gene. Hormonal studies showed isolated 17,20-lyase deficiency. Interestingly, she had a completely normal female phenotype with no DSD, normal pubertal development, and spontaneous pregnancy giving birth uneventfully to a healthy female infant.<\/jats:p>\n               <jats:p>The sex hormone-related features of genetic females with 17,20-lyase deficiency due to cytochrome b5 gene mutation appear to differ from that of females with 17,20-lyase deficiency caused by other genetic defects who presented with hypergonadotropic hypogonadism and infertility and differ from genetic males with the same mutation.<\/jats:p>","DOI":"10.1210\/jendso\/bvz016","type":"journal-article","created":{"date-parts":[[2019,11,18]],"date-time":"2019-11-18T16:26:12Z","timestamp":1574094372000},"source":"Crossref","is-referenced-by-count":14,"title":["Isolated 17,20-Lyase Deficiency in a CYB5A Mutated Female With Normal Sexual Development and Fertility"],"prefix":"10.1210","volume":"4","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4045-3309","authenticated-orcid":false,"given":"Mei Tik","family":"Leung","sequence":"first","affiliation":[{"name":"Department of Pathology, Queen Elizabeth Hospital, Jordan, Kowloon, Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0924-7352","authenticated-orcid":false,"given":"Hoi Ning","family":"Cheung","sequence":"additional","affiliation":[{"name":"Department of Pathology, Queen Elizabeth Hospital, Jordan, Kowloon, Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan Ping","family":"Iu","sequence":"additional","affiliation":[{"name":"Department of Pathology, Queen Elizabeth Hospital, Jordan, Kowloon, Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0868-9992","authenticated-orcid":false,"given":"Cheung Hei","family":"Choi","sequence":"additional","affiliation":[{"name":"Department of Medicine, Queen Elizabeth Hospital, Jordan, Kowloon, Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sau Cheung","family":"Tiu","sequence":"additional","affiliation":[{"name":"Department of Medicine, Queen Elizabeth Hospital, Jordan, Kowloon, Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chi Chung","family":"Shek","sequence":"additional","affiliation":[{"name":"Department of Pathology, Queen Elizabeth Hospital, Jordan, Kowloon, Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2019,11,18]]},"reference":[{"issue":"1","key":"2020071623582350000_CIT0001","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1210\/jc.2011-2161","article-title":"The syndrome of 17,20 lyase deficiency","volume":"97","author":"Miller","year":"2012","journal-title":"J Clin Endocrinol Metab."},{"issue":"12","key":"2020071623582350000_CIT0002","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1056\/NEJM198603203141206","article-title":"Congenital methemoglobinemia with a deficiency of cytochrome b5","volume":"314","author":"Hegesh","year":"1986","journal-title":"N Engl J Med."},{"issue":"3","key":"2020071623582350000_CIT0003","doi-asserted-by":"crossref","first-page":"994","DOI":"10.1210\/jc.2008-1745","article-title":"Isolated 17,20-lyase deficiency due to the cytochrome b5 mutation W27X","volume":"95","author":"Kok","year":"2010","journal-title":"J Clin Endocrinol Metab."},{"issue":"3","key":"2020071623582350000_CIT0004","doi-asserted-by":"crossref","first-page":"E465","DOI":"10.1210\/jc.2011-2413","article-title":"A missense mutation in the human cytochrome b5 gene causes 46,XY disorder of sex development due to true isolated 17,20 lyase deficiency","volume":"97","author":"Idkowiak","year":"2012","journal-title":"J Clin Endocrinol Metab."},{"issue":"1","key":"2020071623582350000_CIT0005","first-page":"4","article-title":"The diagnosis and management of an adult 46xy female with isolated 17, 20-lyase deficiency due to a novel mutation P. 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