{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T03:35:25Z","timestamp":1792035325857,"version":"4.4.0"},"reference-count":47,"publisher":"The Endocrine Society","issue":"3","license":[{"start":{"date-parts":[[2022,1,29]],"date-time":"2022-01-29T00:00:00Z","timestamp":1643414400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"name":"Department of Science and Technology-Science and Engineering Research Board"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,3,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Context<\/jats:title>\n                  <jats:p>There are more than 100 pathogenic variants in CYP17A1 that have been identified in patients with 17\u03b1-hydroxylase\/17,20-lyase deficiency (17OHD).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>We aimed to describe 46,XY patients with 17OHD from our center and review the literature.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>We retrospectively analyzed genetically proven index cases of 17OHD from our 46,XY disorders of sex development cohort and reviewed similar cases from the literature (n\u2005=\u2005150). Based on the phenotype, 17OHD probands were classified into combined severe deficiency (n\u2005=\u2005128) and combined partial deficiency (n\u2005=\u200516). Additionally, patients with the apparent isolated 17,20-lyase deficiency (n\u2005=\u20057, from 6 families) were noted. Residual enzyme activities with the observed mutant enzymes were divided in 2 categories as\u2005&amp;lt;\u20051% and\u2005\u2265\u20051%, each for hydroxylase and lyase.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>We present 4 index cases of 46,XY 17OHD with a complete spectrum of undervirilization and 2 novel variants in CYP17A1. In the review, the combined severe deficiency was the most common form, with more frequent female sex of rearing, hypertension, hypokalemia, suppressed renin, higher plasma corticotropin, lower serum cortisol, and androgens. Immunoassay-measured serum aldosterone was frequently (68.2%) unsuppressed (&amp;gt;5 ng\/dL). Elevated serum progesterone had high sensitivity for diagnosis of combined 17OHD, even in combined partial deficiency (83.3%). Among patients with clinical phenotype of combined severe deficiency, 11.5% had partial 17\u03b1-hydroxylase and complete 17,20-lyase deficiency (&amp;gt;1%\/&amp;lt;1%) and had significantly higher serum cortisol than those with\u2005&amp;lt;\u20051%\/&amp;lt;1% activity.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>We report the first monocentric case series of Asian Indian 46,XY patients with 17OHD. We propose that a phenotype of severe undervirilization with milder cortisol deficiency may represent a distinct subtype of combined severe 17OHD with residual 17\u03b1-hydroxylase activity but severe 17,20-lyase deficiency (&amp;gt;1%\/&amp;lt;1%), which needs further validation.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/jendso\/bvac011","type":"journal-article","created":{"date-parts":[[2022,1,29]],"date-time":"2022-01-29T16:12:25Z","timestamp":1643472745000},"source":"Crossref","is-referenced-by-count":22,"title":["17\u03b1-Hydroxylase\/17,20-Lyase Deficiency in 46,XY: Our Experience and Review of Literature"],"prefix":"10.1210","volume":"6","author":[{"given":"Madhur","family":"Maheshwari","sequence":"first","affiliation":[{"name":"Department of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai 400012, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sneha","family":"Arya","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai 400012, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9623-4471","authenticated-orcid":false,"given":"Anurag Ranjan","family":"Lila","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai 400012, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0243-0448","authenticated-orcid":false,"given":"Vijaya","family":"Sarathi","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Vydehi Institute of Medical Sciences and Research Centre, Bangalore 560066, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rohit","family":"Barnabas","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai 400012, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khushnandan","family":"Rai","sequence":"additional","affiliation":[{"name":"Department of Biosciences and Bioengineering, Indian Institute of Technology Bombay, Powai, Mumbai 400076, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vishwambhar Vishnu","family":"Bhandare","sequence":"additional","affiliation":[{"name":"Department of Biosciences and Bioengineering, Indian Institute of Technology Bombay, Powai, Mumbai 400076, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saba Samad","family":"Memon","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai 400012, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manjiri Pramod","family":"Karlekar","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai 400012, 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