{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T07:54:12Z","timestamp":1791359652999,"version":"4.3.1"},"reference-count":20,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T00:00:00Z","timestamp":1791331200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T00:00:00Z","timestamp":1791331200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Endocrinology"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Variants in\n                      <jats:italic>STAR<\/jats:italic>\n                      , encoding Steroidogenic Acute Regulatory (StAR) protein, and\n                      <jats:italic>CYP11A1<\/jats:italic>\n                      , encoding the cholesterol Side\u2010Chain Cleavage (SCC) enzyme, result in proximal steroidogenic defects. These are classically described as presenting with neonatal\u2010onset primary adrenal insufficiency, with the additional finding of sex reversal in 46,XY newborns. However, the phenotypic spectrum is much wider. The present study aimed at describing the phenotypic heterogeneity and genotypes of patients with\n                      <jats:italic>STAR<\/jats:italic>\n                      and\n                      <jats:italic>CYP11A1<\/jats:italic>\n                      variants followed up at a tertiary care centre in India.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Hospital records of all patients with variants in\n                      <jats:italic>STAR<\/jats:italic>\n                      and\n                      <jats:italic>CYP11A1<\/jats:italic>\n                      who were followed up at the Paediatric Endocrinology division of a tertiary care hospital between January 2018 and January 2026 were reviewed for clinical details and genotypes.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Variants in\n                      <jats:italic>STAR<\/jats:italic>\n                      and\n                      <jats:italic>CYP11A1<\/jats:italic>\n                      were identified in four patients each. Among patients with variants in\n                      <jats:italic>STAR<\/jats:italic>\n                      , two had homozygous pathogenic\/likely pathogenic variants, while two had two heterozygous variants; phase undetermined [of which one was a variant of uncertain significance (VUS)]. The presenting features were salt\u2010wasting crisis (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20093, at ages 2 years, 5 years and Day 15, respectively) and atypical genitalia (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20091). Among patients with variants in\n                      <jats:italic>CYP11A1<\/jats:italic>\n                      , one had two heterozygous variants; phase undetermined (of which one was a VUS), while three had homozygous VUSs. The presentation ranged from adrenal crisis (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20091, at 3.8 years) and salt\u2010wasting crisis (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20091, at 10 months) to progressive hyperpigmentation (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20092, at ages 6.5 years and 21.9 years, respectively). None of the patients had genital ambiguity, while one patient presented with 46,XY sex reversal.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      The present study highlights the wide phenotypic spectrum associated with\n                      <jats:italic>STAR<\/jats:italic>\n                      and\n                      <jats:italic>CYP11A1<\/jats:italic>\n                      variants, ranging from classical neonatal salt\u2010wasting crisis with 46,XY sex reversal, to isolated primary adrenal insufficiency, or isolated undervirilisation, with later emergence of gluco\u2010 and mineralocorticoid deficiency.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/cen.70212","type":"journal-article","created":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T07:46:31Z","timestamp":1791359191000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Congenital Adrenal Hyperplasia due to Proximal Steroidogenic Defects: A Single\u2010Centre Experience From New Delhi"],"prefix":"10.1111","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9352-5492","authenticated-orcid":false,"given":"Sukanya","family":"Priyadarshini","sequence":"first","affiliation":[{"name":"Division of Pediatric Endocrinology All India Institute of Medical Sciences New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0373-8954","authenticated-orcid":false,"given":"Priyanka","family":"Gupta","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology All India Institute of Medical Sciences New Delhi 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