{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T20:13:52Z","timestamp":1786738432903,"version":"build-2736575974"},"reference-count":21,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2020,7]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>Disorders of sex development (DSD) are a wide range of relatively rare conditions having diverse pathophysiology. Identification of an underlying cause can help in treating any coexisting hormone deficiencies and can help with anticipating any other immediate or long-term health concerns.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective:<\/jats:title>\n                    <jats:p>To study the clinical and biochemical profile of patients with 46 XY DSD along with androgen receptor (AR) gene mutation status in selected group of patients.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>A cross-sectional study was conducted after enrolling the eligible DSD patients. Thorough elicitation of history and detailed clinical examination was done. Assays for luteinizing hormone, follicle-stimulating hormone, testosterone, dihydrotestosterone, androstenedione, AMH &amp; Inhibin B (where indicated), and human chorionic gonadotropin stimulation were done as per protocol.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>In total, 48 patients were included in the study. Ambiguous genitalia (58.3%) followed by hypospadias (33.3%) were common presentation. Androgen biosynthetic defect were the most commonly encountered diagnosis followed by androgen insensitivity syndrome (AIS). Swyer syndrome was diagnosed in 4.2% of cases; partial gonadal dysgenesis, ovotesticular DSD, and vanishing testis syndrome contributed to 2% of cases each. Eight cases (16.7%) who presented with isolated proximal and midshaft hypospadias for whom no diagnosis was found were categorized in the \u201cetiology unclear\u201d group. AR gene mutation analysis designed against specific exons did not yield any results.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>46 XY DSD is a heterogeneous group of patients with a varying age of presentation and a diverse clinical profile. Most patients are reared as males and maintained the same gender identity except in isolated cases. Diagnosis of AIS remains a clinical challenge as a definite hormonal criterion does not exist and genetic mutations in AR gene may be negative. Flanking region sequencing, whole genome sequencing, and promoter region sequencing may reveal pathogenic variants. Variations in other genes regulating AR pathway may also be candidates to be studied.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/ijem.ijem_98_20","type":"journal-article","created":{"date-parts":[[2020,8,27]],"date-time":"2020-08-27T06:24:48Z","timestamp":1598509488000},"page":"360-365","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":5,"title":["\u201cSpectrum of 46 XY Disorders of Sex Development\u201d: A Hospital-based Cross-sectional Study"],"prefix":"10.4103","volume":"24","author":[{"given":"Samiran","family":"Das","sequence":"first","affiliation":[{"name":"Department of Endocrinology, Gauhati Medical College, Guwahati, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Uma K.","family":"Saikia","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Gauhati Medical College, Guwahati, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kandarpa K.","family":"Saikia","sequence":"additional","affiliation":[{"name":"Department of Bioengineering and Technology, GUIST, Gauhati University, Assam, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dipti","family":"Sarma","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Gauhati Medical College, Guwahati, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bipul K.","family":"Choudhury","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Gauhati Medical College, Guwahati, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashok K.","family":"Bhuyan","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Gauhati Medical College, Guwahati, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abhamoni","family":"Baro","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Gauhati Medical College, Guwahati, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Darvin V.","family":"Das","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Trivandrum Medical College, Thiruvananthapuram, Kerala, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonali","family":"Appaiah","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, St Johns Medical College, Banglore, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2020,8,27]]},"reference":[{"key":"R1-20260327","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1136\/adc.2006.098319","article-title":"Consensus statement on management of intersex disorders","volume":"91","author":"Hughes","year":"2006","journal-title":"Arch Dis Child"},{"key":"R2-20260327","first-page":"658","article-title":"Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome","volume":"85","author":"Ahmed","year":"2000","journal-title":"J Clin Endocrinol Metab"},{"key":"R3-20260327","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1136\/archdischild-2011-300584","article-title":"Male patients with partial androgen insensitivity syndrome: A longitudinal follow-up of growth, reproductive hormones and the development of gynaecomastia","volume":"97","author":"Hellmann","year":"2012","journal-title":"Arch Dis Child"},{"key":"R4-20260327","doi-asserted-by":"crossref","first-page":"E1294","DOI":"10.1210\/jc.2011-3169","article-title":"Ten novel mutations in the NR5A1 gene cause disordered sex development in 46, XY and ovarian insufficiency in 46, XX individuals","volume":"97","author":"Camats","year":"2012","journal-title":"J Clin Endocrinol Metab"},{"key":"R5-20260327","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1111\/j.1365-2265.2011.04076.x","article-title":"UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development","volume":"75","author":"Ahmed","year":"2011","journal-title":"Clin Endocrinol"},{"key":"R6-20260327","doi-asserted-by":"crossref","first-page":"697","DOI":"10.1046\/j.1365-2265.2000.01166.x","article-title":"The testosterone: Androstenedione ratio in male undermasculinization","volume":"53","author":"Faisal","year":"2000","journal-title":"Clin Endocrinol (Oxf)"},{"key":"R7-20260327","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1136\/adc.45.239.13","article-title":"Variations in the pattern of pubertal changes in boys","volume":"45","author":"Marshall","year":"1970","journal-title":"Arch Dis Child"},{"key":"R8-20260327","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1136\/adc.80.4.324","article-title":"Assessment of the gonadotrophin\u2013gonadal axis in androgen insensitivity syndrome","volume":"80","author":"Ahmed","year":"1999","journal-title":"Arch Dis Child"},{"key":"R10-20260327","doi-asserted-by":"crossref","first-page":"975","DOI":"10.1590\/S1677-5538.IBJU.2014.0544","article-title":"Clinical profile of 93 cases of 46, XY disorders of sexual development in a referral center","volume":"41","author":"Mota","year":"2015","journal-title":"Int Braz J Urol"},{"key":"R11-20260327","doi-asserted-by":"crossref","first-page":"300","DOI":"10.4103\/2230-8210.179999","article-title":"Clinical, hormonal and radiological profile of 46XY disorders of sexual development","volume":"20","author":"Vasundhera","year":"2016","journal-title":"Indian J Endocrinol Metab"},{"key":"R12-20260327","doi-asserted-by":"crossref","first-page":"956","DOI":"10.1007\/s12098-009-0193-z","article-title":"Pediatric disorders of sex development","volume":"76","author":"Kulkarni","year":"2009","journal-title":"Indian J Pediatr"},{"key":"R13-20260327","doi-asserted-by":"crossref","first-page":"77","DOI":"10.14205\/2311-0309.2013.01.02.4","article-title":"Disorder of sex development: Spectrum of disorder in a referral tertiary care hospital in Northern India?","volume":"1","author":"Halder","year":"2013","journal-title":"Glob J Hum Genet Gene Ther"},{"key":"R14-20260327","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1530\/EC-18-0022","article-title":"Disorders of sex development: A study of 194 cases","volume":"7","author":"Walia","year":"2018","journal-title":"Endocr Connect"},{"issue":"Suppl 1","key":"R15-20260327","doi-asserted-by":"crossref","first-page":"P195","DOI":"10.1186\/1687-9856-2013-S1-P195","article-title":"Etiology and clinical profile of children and adolescents with disorders of sex development (DSD) presenting with ambiguous external genitalia","volume":"2013","author":"Mittal","year":"2013","journal-title":"Int J Pediatr Endocrinol"},{"key":"R16-20260327","doi-asserted-by":"crossref","first-page":"774","DOI":"10.4103\/ijem.IJEM_159_18","article-title":"Clinical spectrum of disorders of sex development: A cross-sectional observational study","volume":"22","author":"Dar","year":"2018","journal-title":"Indian J Endocr Metab"},{"key":"R17-20260327","doi-asserted-by":"crossref","first-page":"536","DOI":"10.4103\/2230-8210.183471","article-title":"Gender identity and gender of rearing in 46 XY disorders of sexual development","volume":"20","author":"Gangaher","year":"2016","journal-title":"Indian J Endocr Metab"},{"key":"R18-20260327","first-page":"960","article-title":"Anti-m\u00fcllerian hormone in children with androgen insensitivity","volume":"79","author":"Rey","year":"1994","journal-title":"J Clin Endocrinol Metab"},{"key":"R19-20260327","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1590\/S0004-27302012000800012","article-title":"Clinical and molecular spectrum of patients with 17b-hydroxysteroid dehydrogenase type 3 (17-b-HSD3) deficiency","volume":"56","author":"de Sousa Castro","year":"2012","journal-title":"Arq Bras Endocrinol Metab"},{"key":"R20-20260327","first-page":"4713","article-title":"17b-Hydroxysteroid dehydrogenase-3 deficiency: Diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations","volume":"84","author":"Boehmer","year":"1999","journal-title":"J Clin Endocrinol Metab"},{"key":"R21-20260327","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1159\/000442975","article-title":"Global DSD Update Consortium.Global disorders of sex development update since 2006: Perceptions, approach and care?","volume":"85","author":"Lee","year":"2016","journal-title":"Horm Res Paediatr"},{"issue":"4","key":"R22-20260327","doi-asserted-by":"crossref","first-page":"R197","DOI":"10.1530\/EJE-18-0256","article-title":"GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences\/disorders of sex development (DSD): position paper of EU COST Action BM 1303 'DSDnet'","volume":"179","author":"Audi","year":"2018","journal-title":"Eur J Endocrinol"}],"container-title":["Indian Journal of Endocrinology and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/ijem.IJEM_98_20","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T19:26:25Z","timestamp":1786735585000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/ijem.IJEM_98_20"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,7]]},"references-count":21,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2020]]}},"URL":"https:\/\/doi.org\/10.4103\/ijem.ijem_98_20","relation":{},"ISSN":["2230-8210","2230-9500"],"issn-type":[{"value":"2230-8210","type":"print"},{"value":"2230-9500","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,7]]},"assertion":[{"value":"2020-02-26","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-06-26","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}}]}}