{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T19:27:08Z","timestamp":1787772428204,"version":"build-2784847793"},"reference-count":12,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2024,4]]},"abstract":"<jats:p>\n                    A male patient in his late twenties presented with ambiguous genitalia to our tertiary specialist unit with complaints of short stature and inadequate copulation. There was no history of consanguinity, and a physical examination raised concerns about possible disorders of sexual development (DSD). Karyotyping and fluorescence\n                    <jats:italic toggle=\"yes\">in situ<\/jats:italic>\n                    hybridization results were consistent with the presence of two X chromosomes, revealing the patient to be a genotypic female. Sanger sequencing showed a heterozygous pathogenic mutation in the CYP21A2 gene known to be associated with 21-hydroxylase deficiency, thus confirming the diagnosis of congenital adrenal hyperplasia (CAH), Prader stage V. DSD with CAH is distressing for the patient and their families, and the management needs a multidimensional approach involving diverse medical, genetic, and psychological considerations. Cytogenetic and molecular genetic studies play an essential role in diagnosis and decision-making and should be made affordable in developing countries for better patient care.\n                  <\/jats:p>","DOI":"10.4103\/ijabmr.ijabmr_473_23","type":"journal-article","created":{"date-parts":[[2024,5,24]],"date-time":"2024-05-24T15:05:25Z","timestamp":1716563125000},"page":"134-137","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":1,"title":["Divergent Gender Identity in a Phenotypic Male with 46XX Karyotype Caused by a Mutation in CYP21A2 Gene with Congenital Adrenal Hyperplasia"],"prefix":"10.4103","volume":"14","author":[{"given":"K. C. Pradheep","family":"Kumar","sequence":"first","affiliation":[{"name":"Department of Anatomy, AIIMS, Bhubaneswar, Odisha, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suranjana","family":"Banik","sequence":"additional","affiliation":[{"name":"Department of Anatomy, AIIMS, Bhubaneswar, Odisha, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Praisy","family":"Joy","sequence":"additional","affiliation":[{"name":"Department of Anatomy, AIIMS, Bhubaneswar, Odisha, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanjukta","family":"Sahoo","sequence":"additional","affiliation":[{"name":"Department of Anatomy, AIIMS, Bhubaneswar, Odisha, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2024,5,24]]},"reference":[{"key":"R1-20260505","doi-asserted-by":"crossref","first-page":"162","DOI":"10.4103\/jiaps.JIAPS_70_18","article-title":"A clinical approach to diagnosis of ambiguous genitalia","volume":"24","author":"Khanna","year":"2019","journal-title":"J Indian Assoc Pediatr Surg"},{"key":"R2-20260505","doi-asserted-by":"crossref","first-page":"1571","DOI":"10.1515\/JPEM.2004.17.11.1571","article-title":"Female pseudohermaphroditism with phallic urethra in the offspring of a mother with an adrenal tumor","volume":"17","author":"Alvarez-Nava","year":"2004","journal-title":"J Pediatr Endocrinol Metab"},{"key":"R3-20260505","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1007\/s40291-018-0319-y","article-title":"Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency: A comprehensive focus on 233 pathogenic variants of CYP21A2 gene","volume":"22","author":"Concolino","year":"2018","journal-title":"Mol Diagn Ther"},{"key":"R4-20260505","doi-asserted-by":"crossref","first-page":"1577","DOI":"10.1001\/jama.1968.03150070115039","article-title":"Clinical endocrinology II","volume":"206","author":"Goetz","year":"1968","journal-title":"JAMA J Am Med Assoc"},{"key":"R5-20260505","first-page":"113","article-title":"Williams textbook of endocrinology","volume":"12","author":"Vargatu","year":"2016","journal-title":"Acta Endocrinol Buchar"},{"key":"R6-20260505","doi-asserted-by":"crossref","first-page":"25","DOI":"10.18388\/abp.2017_2343","article-title":"Congenital adrenal hyperplasia: Clinical symptoms and diagnostic methods","volume":"65","author":"Podg\u00f3rski","year":"2018","journal-title":"Acta Biochim Pol"},{"key":"R8-20260505","doi-asserted-by":"crossref","first-page":"436","DOI":"10.4103\/jhrs.jhrs_89_21","article-title":"46XX testicular disorder of sex development","volume":"14","author":"Mantravadi","year":"2021","journal-title":"J Hum Reprod Sci"},{"key":"R9-20260505","doi-asserted-by":"crossref","first-page":"935","DOI":"10.4103\/2230-8210.102994","article-title":"Male genitoplasty for 46XX congenital adrenal hyperplasia patients presenting late and reared as males","volume":"16","author":"Sharma","year":"2012","journal-title":"Indian J Endocrinol Metab"},{"key":"R10-20260505","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1046\/j.0300-0664.2001.01463.x","article-title":"Complete virilization in congenital adrenal hyperplasia: Clinical course, medical management and disease-related complications","volume":"56","author":"Woelfle","year":"2002","journal-title":"Clin Endocrinol (Oxf)"},{"key":"R11-20260505","doi-asserted-by":"crossref","first-page":"180","DOI":"10.4274\/jcrpe.galenos.2020.2020.0216","article-title":"Clinical characteristics of 46, XX males with congenital adrenal hyperplasia","volume":"13","author":"Sava\u015f-Erdeve","year":"2021","journal-title":"J Clin Res Pediatr Endocrinol"},{"key":"R12-20260505","doi-asserted-by":"crossref","first-page":"2554","DOI":"10.21037\/tau-20-1307","article-title":"Sexual function after anterior urethroplasty: A systematic review","volume":"10","author":"Calleja Hermosa","year":"2021","journal-title":"Transl Androl Urol"},{"key":"R13-20260505","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1023\/A:1018670129611","article-title":"Long-term psychological evaluation of intersex children","volume":"27","author":"Slijper","year":"1998","journal-title":"Arch Sex Behav"}],"container-title":["International Journal of Applied &amp; 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