{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T08:51:02Z","timestamp":1792399862609,"version":"4.4.0"},"reference-count":34,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,2,18]],"date-time":"2024-02-18T00:00:00Z","timestamp":1708214400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2024,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Lipoid congenital adrenal hyperplasia (LCAH) is caused by mutations in <jats:italic>STAR<\/jats:italic>. A systematic review of phenotype\u2013genotype correlation and data on testicular histology in LCAH patients is unavailable. We aim to describe our experience and provide phenotype\u2013genotype correlation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Design, Patients\u00a0and Measurements<\/jats:title><jats:p>Retrospective review of three genetically proven LCAH patients from our centre and per\u2010patient data analysis from a systematic review of 292 probands. The phenotypic subgroups of 46,XY\u00a0were Group A (typical female genitalia), Group B (atypical genitalia)\u00a0and Group C (typical male genitalia).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We report three new LCAH probands from India, all diagnosed post\u2010infancy with preserved gonadal function and one novel variant. The systematic review reports 46,XY\u00a0to 46,XX LCAH\u00a0ratio of 1.1 (155:140). Patients with 46,XY LCAH\u00a0in Group A were diagnosed in infancy (116\/117) and had higher mineralocorticoid involvement than Group C (96.4% vs. 75%, <jats:italic>p<\/jats:italic>\u2009=\u20090.035), whereas Group C had preserved gonadal function. Hyperplastic adrenals are noted in ~60% of LCAH diagnosed with primary adrenal insufficiency in infancy. There was no report of gonadal germ cell cancer and rare reports of germ cell neoplasia in situ in adolescents, especially with intraabdominal gonads. Two\u2010thirds of LCAH probands were East\u2010Asian\u00a0and 11\/16 regional recurrent variants were from East Asia. There was minimal overlap between variants in Groups A (<jats:italic>n<\/jats:italic>\u2009=\u200955), B (<jats:italic>n<\/jats:italic>\u2009=\u20099)\u00a0and C (<jats:italic>n<\/jats:italic>\u2009=\u20098). All nonsense and frameshift and most of the splice\u2010site variants and deletion\/insertions were present in Group A.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>We report three new cases of LCAH from India. We propose a phenotype\u2010derived genotypic classification of reported <jats:italic>STAR<\/jats:italic> variants in 46,XY\u00a0LCAH.<\/jats:p><\/jats:sec>","DOI":"10.1111\/cen.15032","type":"journal-article","created":{"date-parts":[[2024,2,18]],"date-time":"2024-02-18T17:09:20Z","timestamp":1708276160000},"page":"431-440","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Steroidogenic acute regulatory protein (STAR) deficiency: Our experience and systematic review for phenotype\u2013genotype correlation"],"prefix":"10.1111","volume":"100","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-5111-0949","authenticated-orcid":false,"given":"Aditya","family":"Phadte","sequence":"first","affiliation":[{"name":"Department of Endocrinology Seth G S Medical College and KEM Hospital Mumbai 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