 Adrenal Hyperplasia, Congenital
"Adrenal Hyperplasia, Congenital" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A group of inherited disorders of the ADRENAL GLANDS, caused by enzyme defects in the synthesis of cortisol (HYDROCORTISONE) and/or ALDOSTERONE leading to accumulation of precursors for ANDROGENS. Depending on the hormone imbalance, congenital adrenal hyperplasia can be classified as salt-wasting, hypertensive, virilizing, or feminizing. Defects in STEROID 21-HYDROXYLASE; STEROID 11-BETA-HYDROXYLASE; STEROID 17-ALPHA-HYDROXYLASE; 3-beta-hydroxysteroid dehydrogenase (3-HYDROXYSTEROID DEHYDROGENASES); TESTOSTERONE 5-ALPHA-REDUCTASE; or steroidogenic acute regulatory protein; among others, underlie these disorders.
| Descriptor ID |
D000312
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| MeSH Number(s) |
C12.706.316.129.500 C13.351.875.253.129.500 C16.131.939.316.129.500 C16.320.033 C16.320.565.925.249 C18.452.648.925.249 C19.053.440 C19.391.119.129.500
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| Concept/Terms |
Adrenal Hyperplasia, Congenital- Adrenal Hyperplasia, Congenital
- Congenital Adrenal Hyperplasia
- Adrenal Hyperplasias, Congenital
- Congenital Adrenal Hyperplasias
- Hyperplasias, Congenital Adrenal
- Hyperplasia, Congenital Adrenal
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Below are MeSH descriptors whose meaning is more general than "Adrenal Hyperplasia, Congenital".
- Diseases [C]
- Male Urogenital Diseases [C12]
- Urogenital Abnormalities [C12.706]
- Disorders of Sex Development [C12.706.316]
- Adrenogenital Syndrome [C12.706.316.129]
- Adrenal Hyperplasia, Congenital [C12.706.316.129.500]
- Female Urogenital Diseases and Pregnancy Complications [C13]
- Female Urogenital Diseases [C13.351]
- Urogenital Abnormalities [C13.351.875]
- Disorders of Sex Development [C13.351.875.253]
- Adrenogenital Syndrome [C13.351.875.253.129]
- Adrenal Hyperplasia, Congenital [C13.351.875.253.129.500]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Congenital Abnormalities [C16.131]
- Urogenital Abnormalities [C16.131.939]
- Disorders of Sex Development [C16.131.939.316]
- Adrenogenital Syndrome [C16.131.939.316.129]
- Adrenal Hyperplasia, Congenital [C16.131.939.316.129.500]
- Genetic Diseases, Inborn [C16.320]
- Adrenal Hyperplasia, Congenital [C16.320.033]
- Metabolism, Inborn Errors [C16.320.565]
- Steroid Metabolism, Inborn Errors [C16.320.565.925]
- Adrenal Hyperplasia, Congenital [C16.320.565.925.249]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Metabolism, Inborn Errors [C18.452.648]
- Steroid Metabolism, Inborn Errors [C18.452.648.925]
- Adrenal Hyperplasia, Congenital [C18.452.648.925.249]
- Endocrine System Diseases [C19]
- Adrenal Gland Diseases [C19.053]
- Adrenal Hyperplasia, Congenital [C19.053.440]
- Gonadal Disorders [C19.391]
- Disorders of Sex Development [C19.391.119]
- Adrenogenital Syndrome [C19.391.119.129]
- Adrenal Hyperplasia, Congenital [C19.391.119.129.500]
Below are MeSH descriptors whose meaning is more specific than "Adrenal Hyperplasia, Congenital".
This graph shows the total number of publications written about "Adrenal Hyperplasia, Congenital" by people in this website by year, and whether "Adrenal Hyperplasia, Congenital" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1995 | 1 | 0 | 1 | | 2003 | 1 | 0 | 1 | | 2005 | 1 | 0 | 1 | | 2010 | 1 | 0 | 1 | | 2013 | 1 | 0 | 1 | | 2015 | 0 | 1 | 1 | | 2016 | 1 | 0 | 1 | | 2017 | 2 | 0 | 2 | | 2018 | 1 | 0 | 1 | | 2020 | 1 | 0 | 1 | | 2021 | 4 | 0 | 4 | | 2022 | 2 | 0 | 2 | | 2023 | 1 | 0 | 1 | | 2024 | 1 | 0 | 1 | | 2025 | 2 | 0 | 2 |
To return to the timeline, click here.
Below are the most recent publications written about "Adrenal Hyperplasia, Congenital" by people in Profiles.
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Chen LM, Valentine A, Davis SM, Graber E, Fechner PY, Furniss A, Nahata L, Pyle L, Vyas AK, Vogiatzi MG, Nokoff NJ. Multicenter Analysis of Cardiometabolic-Related Diagnoses in Youth With Congenital Adrenal Hyperplasia: A PEDSnet Study. J Clin Endocrinol Metab. 2025 Mar 17; 110(4):e1009-e1016.
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Nokoff NJ, Buchanan C, Barker JM. Clinical Manifestations and Treatment Challenges in Infants and Children With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency. J Clin Endocrinol Metab. 2025 Jan 21; 110(Supplement_1):S13-S24.
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Sarafoglou K, Kim MS, Lodish M, Felner EI, Martinerie L, Nokoff NJ, Clemente M, Fechner PY, Vogiatzi MG, Speiser PW, Auchus RJ, Rosales GBG, Roberts E, Jeha GS, Farber RH, Chan JL. Phase 3 Trial of Crinecerfont in Pediatric Congenital Adrenal Hyperplasia. N Engl J Med. 2024 08 08; 391(6):493-503.
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Newfield RS, Sarafoglou K, Fechner PY, Nokoff NJ, Auchus RJ, Vogiatzi MG, Jeha GS, Giri N, Roberts E, Sturgeon J, Chan JL, Farber RH. Crinecerfont, a CRF1 Receptor Antagonist, Lowers Adrenal Androgens in Adolescents With Congenital Adrenal Hyperplasia. J Clin Endocrinol Metab. 2023 10 18; 108(11):2871-2878.
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Kremen J, Harris RM, Aston CE, Perez M, Austin PF, Baskin L, Cheng EY, Fried A, Kolon T, Kropp B, Lakshmanan Y, Nokoff NJ, Palmer B, Paradis A, Poppas D, Reyes KJS, Wolfe-Christensen C, Diamond DA, Tishelman AC, Mullins LL, Wisniewski AB, Chan YM. Exploring Factors Associated with Decisions about Feminizing Genitoplasty in Differences of Sex Development. J Pediatr Adolesc Gynecol. 2022 Dec; 35(6):638-646.
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Auchus RJ, Sarafoglou K, Fechner PY, Vogiatzi MG, Imel EA, Davis SM, Giri N, Sturgeon J, Roberts E, Chan JL, Farber RH. Crinecerfont Lowers Elevated Hormone Markers in Adults With 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia. J Clin Endocrinol Metab. 2022 02 17; 107(3):801-812.
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Fisher RS, Espeleta HC, Baskin LS, Buchanan CL, Chan YM, Cheng EY, Coplen DE, Diamond DA, Nokoff NJ, Palmer BW, Poppas DP, Scott Reyes KJ, Tishelman A, Wolfe-Christensen C, Mullins LL, Wisniewski AB. Decisional regret about surgical and non-surgical issues after genitoplasty among caregivers of female infants with CAH. J Pediatr Urol. 2022 02; 18(1):27-33.
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Sewell R, Buchanan CL, Davis S, Christakis DA, Dempsey A, Furniss A, Kazak AE, Kerlek AJ, Magnusen B, Pajor NM, Pyle L, Pyle LC, Razzaghi H, Schwartz BI, Vogiatzi MG, Nokoff NJ. Behavioral Health Diagnoses in Youth with Differences of Sex Development or Congenital Adrenal Hyperplasia Compared with Controls: A PEDSnet Study. J Pediatr. 2021 12; 239:175-181.e2.
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Perez MN, Clawson AH, Baudino MN, Austin PF, Baskin LS, Chan YM, Cheng EY, Coplen D, Diamond DA, Fried AJ, Kolon T, Kropp B, Lakshmanan Y, Meyer T, Nokoff NJ, Palmer BW, Paradis A, Poppas DP, Reyes KJS, Williot P, Wolfe-Christensen C, Yerkes EB, Wisniewski AB, Mullins LL. Distress Trajectories for Parents of Children With DSD: A Growth Mixture Model. J Pediatr Psychol. 2021 06 03; 46(5):588-598.
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Finn E, Kripps K, Chambers C, Rapp M, Meeks NJL, Xu F, Chen W, Larson AA, Nokoff NJ. A Novel Intronic Pathogenic Variant in STAR With a Dominant Negative Mechanism Causes Attenuated Lipoid Congenital Adrenal Hyperplasia. J Investig Med High Impact Case Rep. 2021 Jan-Dec; 9:23247096211014685.
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