{
  "schemaVersion": 2,
  "eyebrow": "Pediatric Endocrinology",
  "title": "Congenital Adrenal Hyperplasia",
  "summary": "Evaluate suspected congenital adrenal hyperplasia by urgency and steroid pattern: immediately protect infants at risk for salt-wasting crisis, confirm 21-hydroxylase deficiency with serum 17-hydroxyprogesterone and targeted cosyntropin testing, then use mineralocorticoid replacement, glucocorticoid coverage during physiologic stress, and CYP21A2 testing selectively.",
  "seoDescription": "Physician guide to congenital adrenal hyperplasia: newborn-screen follow-up, 17-hydroxyprogesterone thresholds, cosyntropin testing, acute risk, and genetics.",
  "clinicalQuestion": "How should physicians identify, confirm, and initially manage congenital adrenal hyperplasia while distinguishing 21-hydroxylase deficiency from other steroidogenic defects?",
  "specialty": "Endocrinology",
  "audience": "U.S. physicians and medical trainees",
  "tags": [
    "congenital adrenal hyperplasia",
    "21-hydroxylase deficiency",
    "CYP21A2",
    "17-hydroxyprogesterone",
    "cosyntropin stimulation test",
    "nonclassic congenital adrenal hyperplasia",
    "newborn screening"
  ],
  "keyTakeaways": [
    "Treat a markedly abnormal newborn screen or an unwell infant as time-sensitive: obtain serum electrolytes and serum 17-hydroxyprogesterone, but do not defer treatment for cosyntropin testing when clinical instability suggests adrenal insufficiency. [17]",
    "Serum 17-hydroxyprogesterone is the principal confirmatory test for 21-hydroxylase-deficient CAH; typical classic disease has concentrations exceeding 10,000 ng/dL, whereas intermediate results require steroid profiling and/or cosyntropin stimulation. [10][17][18]",
    "For suspected nonclassic 21-hydroxylase deficiency, obtain an early-morning, pre-8 AM 17-hydroxyprogesterone by LC-MS/MS; in menstruating patients, sample in the early follicular phase. Basal 17-hydroxyprogesterone of 6-30 nmol/L warrants cosyntropin testing, and a 60-minute value above 30 nmol/L supports diagnosis. [20]",
    "Classic 21-hydroxylase deficiency requires glucocorticoid and mineralocorticoid replacement; infants also require supplemental sodium. [1][13]",
    "Order CYP21A2 molecular testing for equivocal biochemical cases and reproductive counseling; test the reproductive partner of an affected person because a carrier partner creates a 50% risk of an affected child in each pregnancy. [1][22]"
  ],
  "sections": [
    {
      "id": "triage-and-initial-branching",
      "eyebrow": "First decision",
      "heading": "Triage suspected CAH for adrenal crisis before completing the diagnostic workup",
      "intro": "Separate an unstable infant from outpatient evaluation of androgen excess.",
      "paragraphs": [
        "In a newborn with a positive screen, markedly elevated 17-hydroxyprogesterone (17-OHP), ambiguous genitalia, dehydration, vomiting, poor feeding, or clinical deterioration, obtain serum electrolytes and serum 17-OHP urgently. Mild screen elevations may be managed initially with a repeat filter-paper specimen, but marked elevation or concern for instability requires urgent assessment. [17]",
        "Do not allow cosyntropin stimulation testing to delay treatment when CAH with adrenal insufficiency is clinically suspected. Salt-wasting classic 21-hydroxylase deficiency impairs aldosterone synthesis as well as cortisol synthesis, making intercurrent dehydration and physiologic stress clinically hazardous. [17][21]",
        "After infancy, prioritize an early-morning baseline serum 17-OHP in patients with otherwise unexplained androgen excess or suspected nonclassic disease. A normal newborn screen does not exclude later recognition of CAH, and biochemical confirmation should precede long-term labeling or treatment when the patient is stable. [17][19][20]"
      ],
      "bullets": [
        "For a positive newborn screen: repeat 17-OHP plus serum electrolytes; escalate immediately rather than repeating a dried-blood-spot specimen alone if the elevation is marked or the infant is unwell. [17][18]",
        "For family risk: measure serum 17-OHP in newborn siblings of a proband in addition to routine newborn screening; perform molecular testing if familial pathogenic variants are known. [22]",
        "For physiologic stress in known classic CAH: febrile illness, dehydrating gastroenteritis, major trauma, and surgery with general anesthesia can precipitate adrenal crisis and require increased glucocorticoid doses. [22]"
      ],
      "subsections": [],
      "table": {
        "caption": "Initial action by clinical presentation.",
        "columns": [
          "Presentation",
          "Immediate tests",
          "Action changed by result"
        ],
        "rows": [
          [
            "Positive newborn screen with only mild 17-OHP elevation",
            "Repeat dried-blood-spot 17-OHP. [17]",
            "Persistent or increasing abnormality proceeds to serum confirmation and endocrine evaluation. [17]"
          ],
          [
            "Markedly abnormal screen or symptomatic newborn",
            "Serum electrolytes and serum 17-OHP; do not wait for stimulation testing if unstable. [17]",
            "Treat suspected adrenal insufficiency while confirmatory evaluation proceeds. [17]"
          ],
          [
            "Postinfancy hyperandrogenism or suspected NCCAH",
            "Early-morning, pre-8 AM serum 17-OHP by LC-MS/MS; sample during the early follicular phase when applicable. [20]",
            "Basal 17-OHP of 6-30 nmol/L triggers cosyntropin stimulation testing. [20]"
          ]
        ]
      }
    },
    {
      "id": "confirm-21-hydroxylase-deficiency",
      "eyebrow": "Biochemical confirmation",
      "heading": "Use 17-hydroxyprogesterone thresholds and cosyntropin testing to classify 21-hydroxylase deficiency",
      "intro": "Interpret results by assay, sampling conditions, and pretest phenotype.",
      "paragraphs": [
        "The diagnostic standard for 21-hydroxylase-deficient CAH is serum 17-OHP, commonly confirmed with cosyntropin stimulation. In a patient with a congruent phenotype and unequivocally high 17-OHP, stimulation testing is generally unnecessary; values greater than 10,000 ng/dL strongly favor classic CAH. [10][17][18]",
        "For values that do not establish classic disease, perform a complete adrenal steroid profile before and 60 minutes after 0.25 mg cosyntropin. The profile should include 17-OHP, progesterone, cortisol, deoxycorticosterone, 11-deoxycortisol, pregnenolone, 17-hydroxypregnenolone, DHEA, and androstenedione, allowing both confirmation of 21-hydroxylase deficiency and recognition of alternative enzyme blocks. [18]",
        "For nonclassic 21-hydroxylase deficiency, current screening practice uses early-morning 17-OHP. A basal concentration of at least 6 nmol/L is an effective screening threshold, and a 60-minute 17-OHP concentration greater than 30 nmol/L after 250 mcg ACTH supports diagnosis. Thresholds originated largely from immunoassay data, so report the analytic method and avoid transferring assay-specific cutoffs without validation. [16][20]"
      ],
      "bullets": [
        "Use LC-MS/MS when available for nonclassic CAH screening because it has greater analytical specificity than immunoassay and can measure multiple steroids from a small sample. [16][20]",
        "A basal 17-OHP of 200-1,000 ng/dL is an ambiguous range that should prompt cosyntropin testing rather than empiric steroid treatment in a clinically stable patient. [18]",
        "After infancy, 17-OHP above 2,000 but below 10,000 ng/dL often indicates nonclassic disease, whereas values above 10,000 ng/dL favor classic disease. [17]"
      ],
      "subsections": [],
      "table": {
        "caption": "17-OHP-based diagnostic pathway; thresholds require interpretation in the context of assay and timing. [16][17][18][20]",
        "columns": [
          "Result or setting",
          "Interpretation",
          "Next step"
        ],
        "rows": [
          [
            "17-OHP >10,000 ng/dL with compatible phenotype",
            "Classic 21-hydroxylase-deficient CAH is likely. [17][18]",
            "Assess electrolytes and adrenal/mineralocorticoid status; begin indicated treatment without waiting for cosyntropin testing. [17]"
          ],
          [
            "17-OHP 2,000-10,000 ng/dL after infancy",
            "Often consistent with nonclassic rather than classic disease. [17]",
            "Confirm and phenotype with cosyntropin-stimulated adrenal steroid profile. [17][18]"
          ],
          [
            "Basal early-morning 17-OHP 6-30 nmol/L in suspected NCCAH",
            "Indeterminate screening result. [20]",
            "Perform cosyntropin stimulation testing. [20]"
          ],
          [
            "60-minute 17-OHP >30 nmol/L after 250 mcg ACTH",
            "Supports NCCAH diagnosis. [16][20]",
            "Confirm etiologic assignment and counsel regarding CYP21A2 testing when clinically indicated. [1][22]"
          ]
        ]
      }
    },
    {
      "id": "identify-other-steroidogenic-defects",
      "eyebrow": "Pattern recognition",
      "heading": "Use the stimulated steroid profile when 21-hydroxylase deficiency is not biochemically convincing",
      "intro": "A broad profile prevents misclassification of rarer CAH forms.",
      "paragraphs": [
        "Although 21-hydroxylase deficiency accounts for 95% to 99% of CAH, pathogenic defects in 11β-hydroxylase, 17α-hydroxylase/17,20-lyase, 3β-hydroxysteroid dehydrogenase type 2, StAR, P450 side-chain cleavage enzyme, and P450 oxidoreductase can produce CAH phenotypes. An atypical steroid pattern should therefore redirect testing beyond CYP21A2 alone. [4][15]",
        "Marked elevation of Δ5 steroids—pregnenolone, 17-hydroxypregnenolone, DHEA, and DHEAS—with an increased Δ5:Δ4 ratio relative to progesterone, 17-OHP, and androstenedione supports 3β-hydroxysteroid dehydrogenase type 2 deficiency. Obtain these analytes in the pre- and post-cosyntropin profile when 17-OHP is ambiguous or another enzyme defect is suspected. [18]",
        "Use molecular testing after clinical and hormonal phenotyping when biochemical results are equivocal, when another steroidogenic defect is suspected, or for genetic counseling. CYP21A2 testing is technically challenging, and genotype predicts phenotype usefully but imperfectly; avoid using genotype alone to override the clinical phenotype. [1][15][22]"
      ],
      "bullets": [
        "Order the full stimulated adrenal profile rather than 17-OHP alone when considering 11β-hydroxylase, 3β-hydroxysteroid dehydrogenase type 2, 17α-hydroxylase, or P450 oxidoreductase deficiency. [18]",
        "In confirmed 21-hydroxylase deficiency, CYP21A2-associated disease is autosomal recessive and spans severe classic and milder nonclassic phenotypes. [15][21]",
        "Offer CYP21A2 testing to the reproductive partner of an affected individual; if the partner carries a known pathogenic variant, each pregnancy has a 50% risk of an affected child. [22]"
      ],
      "subsections": [],
      "table": {
        "caption": "Steroid-profile clues that redirect etiologic testing.",
        "columns": [
          "Pattern",
          "Etiologic implication",
          "Next diagnostic action"
        ],
        "rows": [
          [
            "Unequivocally high 17-OHP with compatible phenotype",
            "21-hydroxylase deficiency is most likely. [10][17]",
            "Classify clinical severity and use CYP21A2 testing selectively for equivocal cases or counseling. [1]"
          ],
          [
            "Elevated Δ5 steroids with increased Δ5:Δ4 ratio",
            "Suggests 3β-hydroxysteroid dehydrogenase type 2 deficiency. [18]",
            "Review complete pre/post-cosyntropin profile and pursue gene-directed evaluation. [18]"
          ],
          [
            "Ambiguous 17-OHP or discordant phenotype",
            "Could reflect nonclassic 21-hydroxylase deficiency, assay limitation, or another steroidogenic defect. [18][20]",
            "Perform cosyntropin-stimulated multisteroid testing; document assay methodology. [18][20]"
          ]
        ]
      }
    },
    {
      "id": "initial-management-and-safety",
      "eyebrow": "Management",
      "heading": "Treat classic disease as combined adrenal and mineralocorticoid replacement, then prevent stress-related crisis",
      "intro": "Management intensity follows classic versus nonclassic phenotype and adrenal-risk status.",
      "paragraphs": [
        "For classic 21-hydroxylase-deficient CAH, use glucocorticoid replacement and mineralocorticoid replacement; infants additionally require sodium supplementation. This approach addresses the cortisol deficiency of all classic forms and the aldosterone deficiency of salt-wasting disease. [1][13][21]",
        "Provide explicit stress-dose glucocorticoid instructions to patients with classic CAH and their caregivers. Febrile illness, vomiting or diarrhea with dehydration, major trauma, and procedures requiring general anesthesia are defined high-risk settings because they can precipitate adrenal crisis. [22]",
        "Avoid routine prenatal CAH treatment outside experimental protocols. The Endocrine Society guideline characterizes prenatal treatment as experimental, and this recommendation is particularly relevant when counseling families after identification of a familial CYP21A2 variant. [1][13]",
        "Do not use adrenalectomy as routine management. The guideline suggests avoiding adrenalectomy and recommends against routine experimental therapies intended to promote growth or delay puberty. [13]"
      ],
      "bullets": [
        "Classic CAH: prescribe both glucocorticoid and mineralocorticoid replacement; add sodium supplementation during infancy. [1][13]",
        "Known classic CAH plus febrile illness, dehydrating gastroenteritis, major trauma, or general-anesthesia surgery: increase glucocorticoid dosing rather than maintaining the usual regimen. [22]",
        "Prenatal dexamethasone or other prenatal CAH-directed treatment: restrict to experimental settings. [1][13]"
      ],
      "subsections": [
        {
          "heading": "Nonclassic disease",
          "paragraphs": [
            "Nonclassic 21-hydroxylase deficiency is primarily a diagnostic consideration in patients presenting after infancy with androgen-excess features rather than neonatal salt wasting. Establish the diagnosis with correctly timed 17-OHP testing and cosyntropin confirmation before attributing hyperandrogenism to NCCAH, particularly because assay choice changes basal 17-OHP interpretation. [16][20]"
          ],
          "bullets": [
            "Use an early-morning sample before 8 AM and, in females, early follicular-phase sampling to reduce misclassification during NCCAH evaluation. [20]",
            "Do not extrapolate classic CAH crisis risk or replacement strategy to an unconfirmed outpatient hyperandrogenism presentation; first obtain biochemical confirmation. [17][20]"
          ]
        }
      ],
      "table": {
        "caption": "Management distinctions by phenotype and circumstance.",
        "columns": [
          "Clinical context",
          "Required management decision",
          "Avoid"
        ],
        "rows": [
          [
            "Classic 21-hydroxylase-deficient CAH",
            "Use glucocorticoid plus mineralocorticoid replacement; provide sodium supplementation in infancy. [1][13]",
            "Do not omit mineralocorticoid-directed treatment in classic disease. [1][13]"
          ],
          [
            "Classic CAH during significant physiologic stress",
            "Increase glucocorticoid dosing for febrile illness, dehydrating gastroenteritis, major trauma, or general-anesthesia surgery. [22]",
            "Do not rely on usual maintenance dosing during these stressors. [22]"
          ],
          [
            "Suspected NCCAH",
            "Confirm using timed basal 17-OHP and cosyntropin testing when indicated. [20]",
            "Do not diagnose from a poorly timed or assay-unqualified isolated 17-OHP value. [16][20]"
          ],
          [
            "Prenatal management after familial risk identification",
            "Use genetic counseling and diagnostic evaluation. [22]",
            "Do not treat prenatally outside an experimental setting. [1][13]"
          ]
        ]
      }
    },
    {
      "id": "genetic-counseling-and-family-testing",
      "eyebrow": "Family planning",
      "heading": "Use CYP21A2 testing to resolve uncertainty and quantify reproductive risk",
      "intro": "Genetic results are most useful when interpreted with the steroid phenotype.",
      "paragraphs": [
        "Reserve CYP21A2 genotyping for equivocal diagnostic presentations and genetic counseling rather than using it as the initial substitute for clinical and hormonal evaluation. 21-hydroxylase deficiency is autosomal recessive, and pathogenic variation in CYP21A2 produces a spectrum from classic to nonclassic disease. [1][15][21]",
        "For an affected individual considering pregnancy, offer molecular testing to the reproductive partner. If the partner is not a carrier, the risk of an affected child is substantially reduced; if the partner is heterozygous for a known pathogenic variant, the risk of an affected child is 50% in each pregnancy. [22]",
        "When familial variants are known, evaluate newborn siblings promptly with both serum 17-OHP and molecular testing rather than relying on population screening alone. This is particularly important because early recognition enables prompt glucocorticoid and mineralocorticoid treatment in classic disease. [21][22]"
      ],
      "bullets": [
        "Use phenotype first, then CYP21A2 testing for equivocal cases or counseling. [1]",
        "Counsel that genotype-phenotype prediction is useful but imperfect. [22]",
        "Test newborn siblings at risk with serum 17-OHP in addition to routine newborn screening. [22]"
      ],
      "subsections": [],
      "table": {
        "caption": "Genetic testing actions in 21-hydroxylase-deficient CAH.",
        "columns": [
          "Clinical scenario",
          "Testing action",
          "Decision supported"
        ],
        "rows": [
          [
            "Equivocal biochemical diagnosis",
            "CYP21A2 molecular testing after hormonal evaluation. [1]",
            "Supports etiologic confirmation and counseling. [1]"
          ],
          [
            "Affected patient planning pregnancy",
            "Test the reproductive partner for CYP21A2 pathogenic variants. [22]",
            "A known carrier partner confers a 50% affected-child risk per pregnancy. [22]"
          ],
          [
            "Newborn sibling of a proband",
            "Measure serum 17-OHP plus newborn screening; test molecularly if familial variants are known. [22]",
            "Enables early diagnosis and treatment. [21][22]"
          ]
        ]
      }
    }
  ],
  "faq": [],
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  "editorialNote": "Prepared from cited clinical literature using Astra's research workflow. Verify recommendations against current guidance and patient-specific factors.",
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      "number": 3,
      "title": "Evaluating the efficacy of a long-read sequencing-based approach in the clinical diagnosis of neonatal congenital adrenocortical hyperplasia - ScienceDirect",
      "detail": "www.sciencedirect.com",
      "url": "https://www.sciencedirect.com/science/article/abs/pii/S0009898124000615",
      "authors": "www.sciencedirect.com",
      "host": "www.sciencedirect.com",
      "snippet": "### Lancet (london, England)\n\n### Nationwide neonatal screening for congenital adrenal hyperplasia in sweden: a 26-year longitudinal prospective population-based study\n\n### JAMA Pediatr.\n\n### Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an endocrine society clinical pract",
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      "title": "Genetics in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency and Clinical Implications | Journal of the Endocrine Society | Oxford Academic",
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      "snippet": "# Genetics in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency and Clinical Implications *Open Access*. Paola Concolino, Henrik Falhammar, Genetics in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency and Clinical Implications, *Journal of the Endocrine Society*, Volume ",
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    {
      "number": 5,
      "title": "Biomarkers in congenital adrenal hyperplasia - Wiley Online Library",
      "detail": "onlinelibrary.wiley.com",
      "url": "https://onlinelibrary.wiley.com/doi/full/10.1111/cen.14960",
      "authors": "onlinelibrary.wiley.com",
      "host": "onlinelibrary.wiley.com",
      "snippet": "Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an endocrine society clinical practice guideline. J Clin Endocrinol",
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    {
      "number": 6,
      "title": "The I‐CAH Registry: A platform for international collaboration for ...",
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      "url": "https://onlinelibrary.wiley.com/doi/full/10.1111/cen.14961",
      "authors": "onlinelibrary.wiley.com",
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      "snippet": "Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an endocrine society clinical practice guideline. J Clin Endocrinol",
      "score": 0.7869018
    },
    {
      "number": 7,
      "title": "Management aspects of congenital adrenal hyperplasia during ...",
      "detail": "onlinelibrary.wiley.com",
      "url": "https://onlinelibrary.wiley.com/doi/full/10.1111/cen.14992",
      "authors": "onlinelibrary.wiley.com",
      "host": "onlinelibrary.wiley.com",
      "snippet": "Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an endocrine society clinical practice guideline.",
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      "number": 8,
      "title": "The diagnosis of nonclassic congenital adrenal hyperplasia due to ...",
      "detail": "onlinelibrary.wiley.com",
      "url": "https://onlinelibrary.wiley.com/doi/full/10.1111/cen.12935",
      "authors": "onlinelibrary.wiley.com",
      "host": "onlinelibrary.wiley.com",
      "snippet": "... 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. Journal of Clinical Endocrinology and Metabolism, 95, 4133–4160.",
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    },
    {
      "number": 9,
      "title": "Improved Performance of Newborn Screening for Congenital ...",
      "detail": "academic.oup.com",
      "url": "https://academic.oup.com/jes/article/10/1/bvaf157/8280081",
      "authors": "academic.oup.com",
      "host": "academic.oup.com",
      "snippet": "Improved precision of newborn screening for congenital adrenal hyperplasia using weight-adjusted criteria for 17-hydroxyprogesterone levels . J Pediatr.",
      "score": 0.9713348287607648
    },
    {
      "number": 10,
      "title": "Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase ...",
      "detail": "academic.oup.com",
      "url": "https://academic.oup.com/jcem/article/103/11/4043/5107759",
      "authors": "academic.oup.com",
      "host": "academic.oup.com",
      "snippet": "The standard for confirming a diagnosis of CAH continues to be serum 17-hydroxyprogesterone (17OHP) measurements, most often with cosyntropin",
      "score": 0.9707390727486082
    },
    {
      "number": 11,
      "title": "[PDF] Rare forms of genetic steroidogenic defects affecting the gonads ...",
      "detail": "www.sciencedirect.com",
      "url": "https://www.sciencedirect.com/science/article/am/pii/S1521690X2100110X",
      "authors": "www.sciencedirect.com",
      "host": "www.sciencedirect.com",
      "snippet": "Congenital adrenal hyperplasia owing to CYP21A2 mutations. It is caused by CYP21A2 mutations alternate pathways such as the backdoor and 11-oxy pathway …",
      "score": 0.5962692
    },
    {
      "number": 12,
      "title": "Recommendations for treatment of nonclassic congenital adrenal hyperplasia (NCCAH): An update - ScienceDirect",
      "detail": "www.sciencedirect.com",
      "url": "https://www.sciencedirect.com/science/article/abs/pii/S0039128X11003540",
      "authors": "www.sciencedirect.com",
      "host": "www.sciencedirect.com",
      "snippet": "### J Clin Endocrinol Metab\n\n### Distribution of the V281L mutation of the CYP21 gene in Israeli congenital adrenal hyperplasia patients and its associate with HLA-B14\n\n### Pediatr Endocrinol Rev\n\n### Nonclassic steroid 21-hydroxylase deficiency due to a homozygous V281L mutation in CYP21A2 detected",
      "score": 0.5852203
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    {
      "number": 13,
      "title": "Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline - PubMed",
      "detail": "www.ncbi.nlm.nih.gov",
      "url": "https://www.ncbi.nlm.nih.gov/pubmed/20823466",
      "authors": "www.ncbi.nlm.nih.gov",
      "host": "www.ncbi.nlm.nih.gov",
      "snippet": "An official website of the United States government. Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site. The ** ensures that you are connecting to the official website and that any information you provide is encr",
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    {
      "number": 14,
      "title": "[PDF] CLINICAL STUDY PROTOCOL PLUS AMENDMENT 19 (applicable ...",
      "detail": "cdn.clinicaltrials.gov",
      "url": "https://cdn.clinicaltrials.gov/large-docs/80/NCT03062280/Prot_000.pdf",
      "authors": "cdn.clinicaltrials.gov",
      "host": "cdn.clinicaltrials.gov",
      "snippet": "women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab. 2001;86(1):207-213. Han TS, Walker BR, Arlt W, Ross RJ. Treatment and health outcomes in adults with congenital adrenal hyperplasia. Nat Rev Endocrinol. 2014;10(2):115-124. Joint LWPES/E",
      "score": 0.8145405
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    {
      "number": 15,
      "title": "Genetics in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency and Clinical Implications | Endocrine Society",
      "detail": "www.endocrine.org",
      "url": "https://www.endocrine.org/journals/journal-of-the-endocrine-society/congenital-adrenal-hyperplasia-due-to-21-hydroxylase-deficiency",
      "authors": "www.endocrine.org",
      "host": "www.endocrine.org",
      "snippet": "Of all congenital adrenal hyperplasia (CAH), 95% to 99% is 21-hydroxylase deficiency (21OHD), an autosomal recessive disease. 21OHD is due to an insufficiency of 21-hydroxylase enzyme, which is encoded by the CYP21A2 gene and involved in cortisol and aldosterone production. The clinical presentation",
      "score": 0.76659125
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    {
      "number": 16,
      "title": "Screening for Nonclassic Congenital Adrenal Hyperplasia in the Era of Liquid Chromatography-Tandem Mass Spectrometry - PMC",
      "detail": "pmc.ncbi.nlm.nih.gov",
      "url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC7041698",
      "authors": "pmc.ncbi.nlm.nih.gov",
      "host": "pmc.ncbi.nlm.nih.gov",
      "snippet": "## Abstract\n\n### Context\n\nScreening for and diagnosing non classic congenital adrenal hyperplasia (NCCAH) uses serum 17-hydroxyprogesterone (17OHP) thresholds established from immunoassay data; however, a new liquid-chromatography tandem mass spectrometry (LC-MS/MS) method results in lower 17OHP val",
      "score": 0.9789800522114617
    },
    {
      "number": 17,
      "title": "Congenital adrenal hyperplasia: an update in children",
      "detail": "pmc.ncbi.nlm.nih.gov",
      "url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC3638875",
      "authors": "pmc.ncbi.nlm.nih.gov",
      "host": "pmc.ncbi.nlm.nih.gov",
      "snippet": "If the results of newborn screening are positive for CAH, further follow-up is required. The availability of pediatric subspecialists in a particular geographic location may dictate who receives the initial referral: the primary care physician and/or pediatric endocrinologist. 17-hydoxyprogesterone ",
      "score": 0.9756279272932998
    },
    {
      "number": 18,
      "title": "Congenital Adrenal Hyperplasia - StatPearls - NCBI Bookshelf - NIH",
      "detail": "www.ncbi.nlm.nih.gov",
      "url": "https://www.ncbi.nlm.nih.gov/books/NBK448098",
      "authors": "www.ncbi.nlm.nih.gov",
      "host": "www.ncbi.nlm.nih.gov",
      "snippet": "A 2-tier diagnostic approach is recommended for CAH. The initial screening involves measuring 17-OHP levels to identify 21-OH deficiency. If the result is positive, a repeat 17-OHP test should be conducted along with a serum electrolyte panel. Classic 21-OH deficiency typically results in 17-OHP lev",
      "score": 0.9740669327844672
    },
    {
      "number": 19,
      "title": "Adrenal Steroidogenesis and Congenital Adrenal Hyperplasia",
      "detail": "pmc.ncbi.nlm.nih.gov",
      "url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC4506691",
      "authors": "pmc.ncbi.nlm.nih.gov",
      "host": "pmc.ncbi.nlm.nih.gov",
      "snippet": "Some of the limitations of immunoassay-based screening can be overcome by adjudicating positive tests with a second-tier assay using liquid chromatography/tandem mass spectrometry (LC-MS/MS)41-43. In addition to increased specificity, LC-MS/MS can also quantify multiple steroids with one measurement",
      "score": 0.9736221378583978
    },
    {
      "number": 20,
      "title": "Screening for non-classic congenital adrenal hyperplasia in women: New insights using different immunoassays",
      "detail": "pmc.ncbi.nlm.nih.gov",
      "url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC9871807",
      "authors": "pmc.ncbi.nlm.nih.gov",
      "host": "pmc.ncbi.nlm.nih.gov",
      "snippet": "##  is used to diagnose non-classic congenital adrenal hyperplasia (NCCAH) due to 21-hydroxylase deficiency. The current recommendation is to perform CST when basal serum 17-hydroxyprogesterone (17OHP) levels (performed in the early follicular phase in females) are 6-30 nmol/L, and the test is consi",
      "score": 0.9734554200232524
    },
    {
      "number": 21,
      "title": "Congenital Adrenal Hyperplasia - Endotext - NCBI Bookshelf",
      "detail": "www.ncbi.nlm.nih.gov",
      "url": "https://www.ncbi.nlm.nih.gov/books/NBK278953",
      "authors": "www.ncbi.nlm.nih.gov",
      "host": "www.ncbi.nlm.nih.gov",
      "snippet": "Disorders of steroidogenesis resulting in deficiencies of cortisol and/or aldosterone are collectively referred to as Congenital Adrenal Hyperplasia (CAH). These autosomal recessive enzymatic defects are typified by pathogenic variants in CYP21A2 encoding 21-hydroxylase. Deficiency in this important",
      "score": 0.6659544
    },
    {
      "number": 22,
      "title": "21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia - GeneReviews® - NCBI Bookshelf",
      "detail": "www.ncbi.nlm.nih.gov",
      "url": "https://www.ncbi.nlm.nih.gov/books/NBK1171",
      "authors": "www.ncbi.nlm.nih.gov",
      "host": "www.ncbi.nlm.nih.gov",
      "snippet": "Classic 21-OHD CAH. The genotype for the classic form of 21-OHD CAH is predicted to be a severe pathogenic variant on both CYP21A2 alleles, with completely abolished enzyme activity determined by in vitro expression studies. [...] Offspring of a proband\n\n An affected individual transmits one pathoge",
      "score": 0.6455898
    },
    {
      "number": 23,
      "title": "The impact of adherence and therapy regimens on quality of life in ...",
      "detail": "onlinelibrary.wiley.com",
      "url": "https://onlinelibrary.wiley.com/doi/abs/10.1111/cen.14676",
      "authors": "onlinelibrary.wiley.com",
      "host": "onlinelibrary.wiley.com",
      "snippet": "Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society Clinical Practice guideline. J Clin Endocrinol",
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    {
      "number": 24,
      "title": "Society for Endocrinology Clinical Practice Guideline for the ...",
      "detail": "onlinelibrary.wiley.com",
      "url": "https://onlinelibrary.wiley.com/doi/10.1111/cen.15265",
      "authors": "onlinelibrary.wiley.com",
      "host": "onlinelibrary.wiley.com",
      "snippet": "Congenital Adrenal Hyperplasia Due to Incomplete 21-Hydroxylase Deficiency Mimicking Polycystic Ovarian Disease,” American Journal of",
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  "publishedAt": "2026-09-16T00:13:15.288493+00:00",
  "updatedAt": "2026-09-16T00:13:15.288493+00:00",
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}