{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,20]],"date-time":"2026-03-20T15:28:24Z","timestamp":1774020504930,"version":"3.50.1"},"reference-count":32,"publisher":"The Endocrine Society","issue":"3","license":[{"start":{"date-parts":[[2023,9,16]],"date-time":"2023-09-16T00:00:00Z","timestamp":1694822400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,2,20]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Context<\/jats:title>\n                  <jats:p>Recent guidelines suggest that patients with nonclassic congenital adrenal hyperplasia (NCCAH) stop glucocorticoid therapy after achieving adult height. However, these guidelines do not differentiate between NCCAH genotype groups.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>Compare ACTH-stimulated cortisol and 17-hydroxyprogesterone (17OHP) levels, and the rate of partial cortisol insufficiency in subjects with NCCAH carrying one mild and one severe (mild\/severe) mutation vs subjects with biallelic mild (mild\/mild) mutations.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Retrospective evaluation of the medical records of 122 patients who presented with postnatal virilization and were diagnosed with NCCAH. Patients underwent standard intravenous 0.25 mg\/m2 ACTH stimulation testing. Those with stimulated 17OHP level \u226540 nmol\/L were screened for the 9 most frequent CYP21A2 gene mutations followed by multiplex ligation-dependent probe amplification. A stimulated cortisol level below 500 nmol\/L was defined as partial cortisol deficiency.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Patients were subdivided into 3 genotype groups: 77 carried the mild\/mild genotype, mainly homozygous for p.V281L mutation; 29 were compound heterozygous for mild\/severe mutation, mainly p.V281L\/p.I2Splice, and 16 were heterozygous for p.V281L, and were excluded from statistical evaluation. Stimulated cortisol levels were significantly lower in the mild\/severe than in the mild\/mild group (mean \u00b1 SD, 480 \u00b1 90 vs 570 \u00b1 125 nmol\/L, P &amp;lt; .001). The mild\/severe group exhibited a significantly higher rate of partial cortisol insufficiency (21\/28, 75% vs 28\/71, 39%, P = .004). Peak 17OHP was significantly higher in the mild\/severe group (198 \u00b1 92 vs 118 \u00b1 50 nmol\/L, P &amp;lt; .001).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>The high rate of partial adrenal insufficiency in the mild\/severe group underscores the need to carefully consider the value of glucocorticoid therapy cessation and the importance of stress coverage in this group.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/clinem\/dgad546","type":"journal-article","created":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T15:38:57Z","timestamp":1694792337000},"page":"852-857","source":"Crossref","is-referenced-by-count":6,"title":["Genotype-Specific Cortisol Reserve in a Cohort of Subjects With Nonclassic Congenital Adrenal Hyperplasia 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Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hussein","family":"Majdoub","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology Unit, Carmel Medical Center, Clalit Health Services , Haifa 3436212 , Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nili","family":"Stein","sequence":"additional","affiliation":[{"name":"Statistics Unit, Carmel Medical Center, Clalit Health Services , Haifa 3436212 , Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shulamit","family":"Naor","sequence":"additional","affiliation":[{"name":"Endocrine laboratory, Clalit Health Services , Haifa 3688847 , Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anat","family":"Segev-Becker","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology and Diabetes Unit, Dana-Dwek Children's Hospital, Tel Aviv Sourasky Medical Center , Tel Aviv 6423906 , Israel"},{"name":"Faculty of Medicine, Tel Aviv 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